#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
FAM132A	388581	broad.mit.edu	37	1	1179861	1179861	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:1179861C>T	ENST00000330388.2	-	2	225	c.194G>A	c.(193-195)gGa>gAa	p.G65E		NM_001014980.2	NP_001014980.1	Q5T7M4	ADIPL_HUMAN	family with sequence similarity 132, member A	65					negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of glucose import (GO:0046324)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAACTCAGGTCCTGAGGCCTG	0.672																																						uc001adl.1		NaN																	0					0						c.(193-195)GGA>GAA		family with sequence similarity 132, member A							42.0	48.0	46.0					1																	1179861		2190	4290	6480	SO:0001583	missense	388581					extracellular region		g.chr1:1179861C>T	BC089443	CCDS30554.1	1p36.33	2012-03-26	2007-03-27	2007-03-27	ENSG00000184163	ENSG00000184163			32308	protein-coding gene	gene with protein product	"""adipolin"", ""adipose-derived insulin-sensitizing factor"""		"""C1q domain containing 2"""	C1QDC2		21849507	Standard	NM_001014980		Approved	MGC105127, C1QTNF12, CTRP12	uc001adl.2	Q5T7M4	OTTHUMG00000001412	ENST00000330388.2:c.194G>A	1.37:g.1179861C>T	ENSP00000329137:p.Gly65Glu						p.G65E	NM_001014980	NP_001014980	Q5T7M4	F132A_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	2	226	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	65					Q5EBL5	Missense_Mutation	SNP	ENST00000330388.2	37	c.194G>A	CCDS30554.1	.	.	.	.	.	.	.	.	.	.	c	6.067	0.380660	0.11466	.	.	ENSG00000184163	ENST00000330388	T	0.40476	1.03	3.73	2.77	0.32553	.	0.462153	0.19294	N	0.117812	T	0.30479	0.0766	L	0.34521	1.04	0.26145	N	0.980222	P	0.51351	0.944	P	0.47470	0.548	T	0.14868	-1.0457	10	0.02654	T	1	0.5278	9.0627	0.36444	0.0:0.7741:0.2259:0.0	.	65	Q5T7M4	F132A_HUMAN	E	65	ENSP00000329137:G65E	ENSP00000329137:G65E	G	-	2	0	FAM132A	1169724	0.000000	0.05858	0.679000	0.29978	0.145000	0.21501	0.129000	0.15830	0.871000	0.35750	0.450000	0.29827	GGA		0.672	FAM132A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004080.4		XM_371208		16	81	0	0	0	0.008871	0	16	81		
TP73-AS1	57212	broad.mit.edu	37	1	3662532	3662532	+	RNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:3662532G>A	ENST00000452079.1	-	0	1354				TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000544565.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											GGTGGAGGCAGATGGTGTTGC	0.592																																						uc009vlm.2		NaN																	0					0						c.(235-237)TCT>TTT		hypothetical protein LOC57212 precursor							93.0	104.0	100.0					1																	3662532		2159	4259	6418			57212							g.chr1:3662532G>A			1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"""Long non-coding RNAs"""	29052	non-coding RNA	RNA, long non-coding	"""p53-dependent apoptosis modulator"""		"""KIAA0495"""	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3662532G>A						KIAA0495_uc001akt.3_RNA	p.S79F	NM_207306	NP_997189				Epithelial(90;1.27e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.204)	1	1355	-	all_cancers(77;0.0338)|Ovarian(185;0.0634)|Lung NSC(156;0.172)|all_lung(157;0.182)	all_epithelial(116;1.83e-21)|all_lung(118;2e-08)|Lung NSC(185;7.5e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)							Missense_Mutation	SNP	ENST00000452079.1	37	c.236C>T																																																																																					0.592	TP73-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000009558.1		NR_033708		40	190	0	0	0	0.00361	0	40	190		
DFFA	1676	broad.mit.edu	37	1	10523212	10523212	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:10523212C>G	ENST00000377038.3	-	5	753	c.686G>C	c.(685-687)aGa>aCa	p.R229T	DFFA_ENST00000377036.2_Missense_Mutation_p.R229T	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	229					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GGAGGTCTCTCTGCTGATACC	0.557																																						uc001arj.2		NaN																	0					0						c.(685-687)AGA>ACA		DNA fragmentation factor, 45kDa, alpha							110.0	78.0	89.0					1																	10523212		2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10523212C>G	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.686G>C	1.37:g.10523212C>G	ENSP00000366237:p.Arg229Thr					DFFA_uc001ark.2_Missense_Mutation_p.R229T	p.R229T	NM_004401	NP_004392	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	5	784	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	229					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.686G>C	CCDS118.1	.	.	.	.	.	.	.	.	.	.	C	1.157	-0.644938	0.03531	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.06	3.19	0.36642	DNA fragmentation factor 45kDa, C-terminal (3);	0.901448	0.09715	N	0.765171	T	0.26882	0.0658	N	0.25647	0.755	0.09310	N	1	B;B	0.20164	0.001;0.042	B;B	0.21917	0.003;0.037	T	0.25502	-1.0130	9	0.02654	T	1	2.0827	9.5302	0.39189	0.0:0.836:0.0:0.164	.	229;229	O00273-2;O00273	.;DFFA_HUMAN	T	229	.	ENSP00000366235:R229T	R	-	2	0	DFFA	10445799	0.000000	0.05858	0.004000	0.12327	0.047000	0.14425	-0.460000	0.06720	0.539000	0.28788	0.650000	0.86243	AGA		0.557	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1		NM_004401		9	66	0	0	0	0.008291	0	9	66		
MFN2	9927	broad.mit.edu	37	1	12061571	12061571	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:12061571C>G	ENST00000235329.5	+	9	1252	c.930C>G	c.(928-930)ctC>ctG	p.L310L	MFN2_ENST00000444836.1_Silent_p.L310L	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	310	Dynamin-type G.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGGAGGTGCTCAACGCCAGGA	0.532											OREG0013107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001atn.3		NaN																	0				ovary(1)	1						c.(928-930)CTC>CTG		mitofusin 2							87.0	79.0	82.0					1																	12061571		2203	4300	6503	SO:0001819	synonymous_variant	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12061571C>G	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.930C>G	1.37:g.12061571C>G			OREG0013107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	677	MFN2_uc009vni.2_Silent_p.L310L	p.L310L	NM_014874	NP_055689	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	9	1383	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	310			Cytoplasmic (Potential).		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	ENST00000235329.5	37	c.930C>G	CCDS30587.1																																																																																				0.532	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2		NM_014874		7	30	0	0	0	0.004482	0	7	30		
TNFRSF8	943	broad.mit.edu	37	1	12175755	12175755	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:12175755C>G	ENST00000263932.2	+	8	1137	c.915C>G	c.(913-915)atC>atG	p.I305M	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.I194M	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	305					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CCTACCCAATCTGTGCAGCAG	0.627																																						uc001atq.2		NaN																	0				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5						c.(913-915)ATC>ATG		tumor necrosis factor receptor superfamily,							119.0	89.0	99.0					1																	12175755		2203	4300	6503	SO:0001583	missense	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12175755C>G	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.915C>G	1.37:g.12175755C>G	ENSP00000263932:p.Ile305Met					TNFRSF8_uc010obc.1_Missense_Mutation_p.I194M	p.I305M	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	8	1137	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	305			Extracellular (Potential).|TNFR-Cys 6.		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.915C>G	CCDS144.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726099	0.30593	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.73152	-0.72;-0.72	3.42	-0.0401	0.13873	.	.	.	.	.	T	0.64305	0.2586	L	0.34521	1.04	0.09310	N	1	P;P	0.51351	0.944;0.939	P;P	0.49012	0.598;0.465	T	0.56535	-0.7963	9	0.42905	T	0.14	-1.2333	10.6097	0.45415	0.0:0.3973:0.6027:0.0	.	194;305	D3YTD8;P28908	.;TNR8_HUMAN	M	305;194	ENSP00000263932:I305M;ENSP00000390650:I194M	ENSP00000263932:I305M	I	+	3	3	TNFRSF8	12098342	0.018000	0.18449	0.004000	0.12327	0.102000	0.19082	0.625000	0.24477	0.236000	0.21180	0.453000	0.30009	ATC		0.627	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1				9	65	0	0	0	0.004482	0	9	65		
VPS13D	55187	broad.mit.edu	37	1	12322040	12322040	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:12322040G>A	ENST00000358136.3	+	13	1627	c.1497G>A	c.(1495-1497)ctG>ctA	p.L499L	VPS13D_ENST00000356315.4_Silent_p.L499L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGCCAAACTGAATTTGCAGT	0.448																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(1495-1497)CTG>CTA		vacuolar protein sorting 13D isoform 1							148.0	124.0	132.0					1																	12322040		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12322040G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.1497G>A	1.37:g.12322040G>A						VPS13D_uc001atw.2_Silent_p.L499L	p.L499L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	13	1638	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	499						Silent	SNP	ENST00000358136.3	37	c.1497G>A	CCDS30588.1																																																																																				0.448	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		14	87	0	0	0	0.006122	0	14	87		
VPS13D	55187	broad.mit.edu	37	1	12339681	12339681	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:12339681G>A	ENST00000358136.3	+	20	4706	c.4576G>A	c.(4576-4578)Gaa>Aaa	p.E1526K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E1526K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CATGAAGATTGAAGGAAAATT	0.333																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(4576-4578)GAA>AAA		vacuolar protein sorting 13D isoform 1							66.0	66.0	66.0					1																	12339681		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12339681G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.4576G>A	1.37:g.12339681G>A	ENSP00000350854:p.Glu1526Lys					VPS13D_uc001atw.2_Missense_Mutation_p.E1526K|VPS13D_uc001atx.2_Missense_Mutation_p.E714K	p.E1526K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	20	4717	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1526						Missense_Mutation	SNP	ENST00000358136.3	37	c.4576G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735342	0.69189	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.53206	0.63;0.63	6.02	6.02	0.97574	.	0.050376	0.85682	D	0.000000	T	0.64046	0.2563	L	0.57536	1.79	0.80722	D	1	D;D	0.69078	0.98;0.997	P;D	0.75020	0.701;0.985	T	0.53450	-0.8437	10	0.08599	T	0.76	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	1526;1526	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	1526	ENSP00000348666:E1526K;ENSP00000350854:E1526K	ENSP00000348666:E1526K	E	+	1	0	VPS13D	12262268	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.342000	0.79310	2.857000	0.98124	0.650000	0.86243	GAA		0.333	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		8	45	0	0	0	0.008291	0	8	45		
KAZN	23254	broad.mit.edu	37	1	14925613	14925613	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:14925613G>C	ENST00000376030.2	+	1	414	c.120G>C	c.(118-120)ctG>ctC	p.L40L	KAZN_ENST00000503743.1_Silent_p.L40L|KAZN_ENST00000422387.2_Silent_p.L40L	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	40					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TGGCGGAACTGAgcggcggcg	0.751																																						uc001avm.3		NaN																	0					0						c.(118-120)CTG>CTC		kazrin isoform E							14.0	16.0	15.0					1																	14925613		1832	4047	5879	SO:0001819	synonymous_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:14925613G>C	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.120G>C	1.37:g.14925613G>C						KAZ_uc009vog.1_Silent_p.L40L|KAZ_uc010obj.1_Silent_p.L40L	p.L40L	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN			1	401	+			40					B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	c.120G>C	CCDS152.2																																																																																				0.751	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2		NM_001017999		6	43	0	0	0	0.001168	0	6	43		
RSC1A1	6248	broad.mit.edu	37	1	15986462	15986462	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:15986462C>G	ENST00000345034.1	+	1	99	c.99C>G	c.(97-99)gtC>gtG	p.V33V	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	33					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGCTCTGTCTCTGCTTCAG	0.478																																						uc010obn.1		NaN																	0				ovary(1)	1						c.(97-99)GTC>GTG		regulatory solute carrier protein, family 1,							189.0	195.0	193.0					1																	15986462		2203	4300	6503	SO:0001819	synonymous_variant	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15986462C>G	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.99C>G	1.37:g.15986462C>G						DDI2_uc001awx.1_3'UTR|DDI2_uc009voj.1_3'UTR	p.V33V	NM_006511	NP_006502	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	99	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	33					B2RBP5	Silent	SNP	ENST00000345034.1	37	c.99C>G	CCDS161.1																																																																																				0.478	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1		NM_006511		33	183	0	0	0	0.009718	0	33	183		
RSC1A1	6248	broad.mit.edu	37	1	15986581	15986581	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:15986581C>A	ENST00000345034.1	+	1	218	c.218C>A	c.(217-219)tCt>tAt	p.S73Y	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	73					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAACATCTTTCTTTACAAGAT	0.428																																						uc010obn.1		NaN																	0				ovary(1)	1						c.(217-219)TCT>TAT		regulatory solute carrier protein, family 1,							104.0	108.0	107.0					1																	15986581		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15986581C>A	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.218C>A	1.37:g.15986581C>A	ENSP00000341963:p.Ser73Tyr					DDI2_uc001awx.1_3'UTR|DDI2_uc009voj.1_3'UTR	p.S73Y	NM_006511	NP_006502	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	218	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	73					B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.218C>A	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998457	0.35226	.	.	ENSG00000215695	ENST00000345034	T	0.44482	0.92	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000008	T	0.22126	0.0533	N	0.08118	0	0.24428	N	0.994583	P	0.44578	0.838	B	0.37198	0.243	T	0.19910	-1.0291	10	0.66056	D	0.02	-3.494	10.78	0.46371	0.0:0.9138:0.0:0.0862	.	73	Q92681	RSCA1_HUMAN	Y	73	ENSP00000341963:S73Y	ENSP00000341963:S73Y	S	+	2	0	RSC1A1	15859168	0.049000	0.20398	0.975000	0.42487	0.196000	0.23810	0.441000	0.21611	2.687000	0.91594	0.561000	0.74099	TCT		0.428	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1		NM_006511		11	52	1	0	9.31168e-06	0.001855	9.66208e-06	11	52		
RSC1A1	6248	broad.mit.edu	37	1	15987253	15987253	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:15987253C>A	ENST00000345034.1	+	1	890	c.890C>A	c.(889-891)tCa>tAa	p.S297*	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	297					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTAACCCTTCATCTGAAATT	0.383																																						uc010obn.1		NaN																	0				ovary(1)	1						c.(889-891)TCA>TAA		regulatory solute carrier protein, family 1,							74.0	73.0	73.0					1																	15987253		2203	4300	6503	SO:0001587	stop_gained	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987253C>A	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.890C>A	1.37:g.15987253C>A	ENSP00000341963:p.Ser297*						p.S297*	NM_006511	NP_006502	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	890	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	297					B2RBP5	Nonsense_Mutation	SNP	ENST00000345034.1	37	c.890C>A	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547661	0.86022	.	.	ENSG00000215695	ENST00000345034	.	.	.	5.28	5.28	0.74379	.	0.000000	0.37348	N	0.002122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3903	15.6848	0.77400	0.0:1.0:0.0:0.0	.	.	.	.	X	297	.	ENSP00000341963:S297X	S	+	2	0	RSC1A1	15859840	0.149000	0.22717	0.449000	0.26957	0.974000	0.67602	1.630000	0.37081	2.473000	0.83533	0.561000	0.74099	TCA		0.383	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1		NM_006511		6	44	1	0	0.000157383	0.00308	0.000161752	6	44		
RSC1A1	6248	broad.mit.edu	37	1	15987441	15987441	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:15987441C>T	ENST00000345034.1	+	1	1078	c.1078C>T	c.(1078-1080)Cat>Tat	p.H360Y	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	360					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGAACTTCATGAACTTTT	0.438																																						uc010obn.1		NaN																	0				ovary(1)	1						c.(1078-1080)CAT>TAT		regulatory solute carrier protein, family 1,							45.0	43.0	44.0					1																	15987441		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987441C>T	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1078C>T	1.37:g.15987441C>T	ENSP00000341963:p.His360Tyr						p.H360Y	NM_006511	NP_006502	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1078	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	360					B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.1078C>T	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545798	0.86022	.	.	ENSG00000215695	ENST00000345034	T	0.35048	1.33	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000005	T	0.50837	0.1639	L	0.32530	0.975	0.43360	D	0.995436	D	0.76494	0.999	D	0.69142	0.962	T	0.48281	-0.9049	10	0.62326	D	0.03	1.1014	18.7155	0.91673	0.0:1.0:0.0:0.0	.	360	Q92681	RSCA1_HUMAN	Y	360	ENSP00000341963:H360Y	ENSP00000341963:H360Y	H	+	1	0	RSC1A1	15860028	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.761000	0.68801	2.763000	0.94921	0.563000	0.77884	CAT		0.438	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1		NM_006511		7	25	0	0	0	0.008291	0	7	25		
PLEKHM2	23207	broad.mit.edu	37	1	16053943	16053943	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:16053943C>T	ENST00000375799.3	+	9	1603	c.1376C>T	c.(1375-1377)tCa>tTa	p.S459L	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.S439L	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	459					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GAGGGGCTTTCAGCCCCAATG	0.632																																						uc010obo.1		NaN																	0				ovary(1)	1						c.(1375-1377)TCA>TTA		pleckstrin homology domain containing, family M							12.0	13.0	13.0					1																	16053943		1862	4101	5963	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16053943C>T	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1376C>T	1.37:g.16053943C>T	ENSP00000364956:p.Ser459Leu						p.S459L	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	9	1603	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	459					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.1376C>T	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475930	0.44044	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.43294	0.95;0.97	5.13	5.13	0.70059	.	0.337832	0.30593	N	0.009293	T	0.20577	0.0495	N	0.08118	0	0.26001	N	0.982112	B	0.02656	0.0	B	0.01281	0.0	T	0.10520	-1.0626	10	0.21014	T	0.42	-1.1727	8.379	0.32459	0.155:0.7667:0.0:0.0783	.	459	Q8IWE5	PKHM2_HUMAN	L	459;439	ENSP00000364956:S459L;ENSP00000364950:S439L	ENSP00000364950:S439L	S	+	2	0	PLEKHM2	15926530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.523000	0.53488	2.531000	0.85337	0.655000	0.94253	TCA		0.632	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1		NM_015164		4	6	0	0	0	0.001168	0	4	6		
HTR6	3362	broad.mit.edu	37	1	20005075	20005075	+	Missense_Mutation	SNP	C	C	A	rs61751019		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:20005075C>A	ENST00000289753.1	+	2	1197	c.730C>A	c.(730-732)Cgc>Agc	p.R244S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	244					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CAGGACCCCACGCCCAGGGGT	0.622																																					Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.2		NaN																	0				ovary(1)	1						c.(730-732)CGC>AGC		5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						60.0	65.0	63.0					1																	20005075		2203	4300	6503	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:20005075C>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.730C>A	1.37:g.20005075C>A	ENSP00000289753:p.Arg244Ser						p.R244S	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	2	1197	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	244			Cytoplasmic (By similarity).		Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.730C>A	CCDS197.1	.	.	.	.	.	.	.	.	.	.	C	8.435	0.849613	0.17034	.	.	ENSG00000158748	ENST00000289753	T	0.54479	0.57	4.61	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.743446	0.12827	N	0.435971	T	0.27629	0.0679	N	0.04335	-0.225	0.21553	N	0.999646	B	0.17465	0.022	B	0.14578	0.011	T	0.07868	-1.0750	9	.	.	.	.	9.6597	0.39947	0.2652:0.7348:0.0:0.0	.	244	P50406	5HT6R_HUMAN	S	244	ENSP00000289753:R244S	.	R	+	1	0	HTR6	19877662	0.000000	0.05858	0.998000	0.56505	0.992000	0.81027	0.430000	0.21428	2.559000	0.86315	0.655000	0.94253	CGC		0.622	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1		NM_000871		17	126	1	0	6.21321e-17	0.00278	6.68243e-17	17	126		
CDA	978	broad.mit.edu	37	1	20944968	20944968	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:20944968C>T	ENST00000375071.3	+	4	530	c.348C>T	c.(346-348)taC>taT	p.Y116Y	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	116	CMP/dCMP deaminase zinc-binding.				cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GGCCCGTGTACATGACCAAGC	0.587																																					Pancreas(74;49 1356 2772 27818 40529)	uc001bdk.2		NaN																	0				ovary(1)	1						c.(346-348)TAC>TAT		cytidine deaminase	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)						88.0	70.0	76.0					1																	20944968		2203	4300	6503	SO:0001819	synonymous_variant	978				cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding	g.chr1:20944968C>T	BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.348C>T	1.37:g.20944968C>T						CDA_uc001bdl.2_RNA|CDA_uc009vpv.2_RNA	p.Y116Y	NM_001785	NP_001776	P32320	CDD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	4	527	+		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	116						Silent	SNP	ENST00000375071.3	37	c.348C>T	CCDS210.1																																																																																				0.587	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007965.1		NM_001785		5	37	0	0	0	0.004482	0	5	37		
USP48	84196	broad.mit.edu	37	1	22074665	22074665	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:22074665G>C	ENST00000308271.9	-	7	1522	c.874C>G	c.(874-876)Ctg>Gtg	p.L292V	USP48_ENST00000421625.2_Missense_Mutation_p.L292V|USP48_ENST00000400301.1_Missense_Mutation_p.L292V|USP48_ENST00000529637.1_Missense_Mutation_p.L292V	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	292	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TGCAAGTTCAGAGTGCAAGGA	0.378																																						uc001bfb.2		NaN																	0				ovary(1)|lung(1)	2						c.(874-876)CTG>GTG		ubiquitin specific protease 48 isoform a							182.0	151.0	162.0					1																	22074665		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22074665G>C	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.874C>G	1.37:g.22074665G>C	ENSP00000309262:p.Leu292Val					USP48_uc010odq.1_Missense_Mutation_p.L292V|USP48_uc009vqc.2_Missense_Mutation_p.L292V|USP48_uc001bfc.2_Missense_Mutation_p.L292V|USP48_uc001bfe.1_Missense_Mutation_p.L292V|USP48_uc001bff.2_Missense_Mutation_p.L292V	p.L292V	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	7	1112	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	292					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.874C>G	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241613	0.58995	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.55	1.6	0.23607	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	M	0.87900	2.915	0.52099	D	0.999947	D;D;D;D;D;D	0.89917	0.999;0.998;0.997;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.998;0.98;0.986;1.0;0.998;0.991	T	0.56798	-0.7919	10	0.87932	D	0	.	9.5554	0.39334	0.2848:0.0:0.7152:0.0	.	292;292;292;292;292;292	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	V	292	ENSP00000383157:L292V;ENSP00000309262:L292V;ENSP00000431949:L292V;ENSP00000406256:L292V	ENSP00000309262:L292V	L	-	1	2	USP48	21947252	1.000000	0.71417	0.968000	0.41197	0.911000	0.54048	3.519000	0.53458	0.041000	0.15688	0.563000	0.77884	CTG		0.378	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1		NM_032236		9	60	0	0	0	0.001368	0	9	60		
TCEB3	6924	broad.mit.edu	37	1	24077712	24077712	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:24077712C>T	ENST00000418390.2	+	4	966	c.695C>T	c.(694-696)tCa>tTa	p.S232L	TCEB3_ENST00000609199.1_Missense_Mutation_p.S206L	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	232					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCCATTGTTTCACACCAGAAG	0.552											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bho.2		NaN																	0				ovary(1)	1						c.(694-696)TCA>TTA		elongin A							95.0	102.0	99.0					1																	24077712		2203	4300	6503	SO:0001583	missense	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24077712C>T	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.695C>T	1.37:g.24077712C>T	ENSP00000395574:p.Ser232Leu		OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768		p.S232L	NM_003198	NP_003189	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	755	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	232					B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	c.695C>T	CCDS239.2	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426705	0.25726	.	.	ENSG00000011007	ENST00000418390	T	0.06933	3.24	5.74	4.83	0.62350	.	0.890312	0.09658	N	0.772774	T	0.07683	0.0193	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37526	-0.9702	10	0.25751	T	0.34	-0.5011	6.6213	0.22804	0.0:0.7072:0.1792:0.1136	.	232	Q14241	ELOA1_HUMAN	L	232	ENSP00000395574:S232L	ENSP00000395574:S232L	S	+	2	0	TCEB3	23950299	0.097000	0.21791	0.327000	0.25402	0.527000	0.34593	1.604000	0.36804	1.422000	0.47177	0.655000	0.94253	TCA		0.552	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2		NM_003198		9	93	0	0	0	0.006214	0	9	93		
TCEB3	6924	broad.mit.edu	37	1	24078045	24078045	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:24078045C>G	ENST00000418390.2	+	4	1299	c.1028C>G	c.(1027-1029)tCa>tGa	p.S343*	TCEB3_ENST00000609199.1_Nonsense_Mutation_p.S317*	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	343					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTGCCTCCCTCAGAGGCCGCT	0.522											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bho.2		NaN																	0				ovary(1)	1						c.(1027-1029)TCA>TGA		elongin A							61.0	65.0	63.0					1																	24078045		2203	4300	6503	SO:0001587	stop_gained	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24078045C>G	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1028C>G	1.37:g.24078045C>G	ENSP00000395574:p.Ser343*		OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768		p.S343*	NM_003198	NP_003189	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	1088	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	343					B2R7Q8|Q8IXH1	Nonsense_Mutation	SNP	ENST00000418390.2	37	c.1028C>G	CCDS239.2	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661994	0.47572	.	.	ENSG00000011007	ENST00000418390	.	.	.	5.74	-3.23	0.05109	.	1.371870	0.04694	N	0.414683	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.1969	15.6314	0.76912	0.0:0.5768:0.0:0.4232	.	.	.	.	X	343	.	ENSP00000395574:S343X	S	+	2	0	TCEB3	23950632	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.286000	0.08399	-0.641000	0.05487	-0.302000	0.09304	TCA		0.522	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2		NM_003198		6	40	0	0	0	0.001984	0	6	40		
GPATCH3	63906	broad.mit.edu	37	1	27216180	27216180	+	IGR	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:27216180G>A	ENST00000361720.5	-	0	2123				GPN2_ENST00000461282.1_5'Flank|GPN2_ENST00000374135.4_Silent_p.L136L	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3								nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GACGCACCCTGAGGTCCCACT	0.642																																						uc001bnd.1		NaN																	0					0						c.(406-408)CTC>CTT		ATP binding domain 1 family, member B							53.0	59.0	57.0					1																	27216180		2202	4300	6502	SO:0001628	intergenic_variant	54707						GTP binding	g.chr1:27216180G>A	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229		1.37:g.27216180G>A							p.L136L	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN			1	690	-			136					Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	ENST00000361720.5	37	c.408C>T	CCDS290.1																																																																																				0.642	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1		NM_022078		23	164	0	0	0	0.005443	0	23	164		
FGR	2268	broad.mit.edu	37	1	27950379	27950379	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:27950379C>A	ENST00000374005.3	-	3	337	c.49G>T	c.(49-51)Gag>Tag	p.E17*	FGR_ENST00000545953.1_Nonsense_Mutation_p.E17*|FGR_ENST00000399173.1_Nonsense_Mutation_p.E17*|FGR_ENST00000468038.1_5'UTR|FGR_ENST00000374004.1_Nonsense_Mutation_p.E17*	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	17					blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCAGCATCCTCCTTGGCCGTG	0.602																																						uc001boj.2		NaN																	0				skin(2)	2						c.(49-51)GAG>TAG		proto-oncogene tyrosine-protein kinase FGR							87.0	77.0	80.0					1																	27950379		2203	4300	6503	SO:0001587	stop_gained	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27950379C>A	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.49G>T	1.37:g.27950379C>A	ENSP00000363117:p.Glu17*					FGR_uc001bok.2_Nonsense_Mutation_p.E17*|FGR_uc001bol.2_Nonsense_Mutation_p.E17*|FGR_uc001bom.2_Nonsense_Mutation_p.E17*	p.E17*	NM_005248	NP_005239	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	1	195	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	17					D3DPL7|Q9UIQ3	Nonsense_Mutation	SNP	ENST00000374005.3	37	c.49G>T	CCDS305.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205896	0.58234	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	.	.	.	4.92	3.97	0.46021	.	2.733000	0.01647	N	0.024378	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	12.819	0.57681	0.0:0.8348:0.1652:0.0	.	.	.	.	X	17	.	ENSP00000363115:E17X	E	-	1	0	FGR	27822966	0.999000	0.42202	0.990000	0.47175	0.054000	0.15201	2.047000	0.41269	1.315000	0.45114	0.655000	0.94253	GAG		0.602	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1		NM_005248		13	72	1	0	0.000308642	0.003163	0.000316957	13	72		
XKR8	55113	broad.mit.edu	37	1	28290051	28290051	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:28290051G>C	ENST00000373884.5	+	2	945	c.337G>C	c.(337-339)Gag>Cag	p.E113Q		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	113					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GTGGCAGCAGGAGGAGCCCTC	0.612																																						uc001bph.1		NaN																	0					0						c.(337-339)GAG>CAG		XK, Kell blood group complex subunit-related							46.0	45.0	45.0					1																	28290051		2203	4300	6503	SO:0001583	missense	55113					integral to membrane		g.chr1:28290051G>C	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.337G>C	1.37:g.28290051G>C	ENSP00000362991:p.Glu113Gln						p.E113Q	NM_018053	NP_060523	Q9H6D3	XKR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)	2	414	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	113						Missense_Mutation	SNP	ENST00000373884.5	37	c.337G>C	CCDS315.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246094	0.39697	.	.	ENSG00000158156	ENST00000373884	T	0.63417	-0.04	5.55	2.67	0.31697	.	0.545308	0.19443	N	0.114124	T	0.51075	0.1653	L	0.55990	1.75	0.30528	N	0.767703	B	0.25312	0.123	B	0.24394	0.053	T	0.47471	-0.9115	10	0.30854	T	0.27	.	5.7486	0.18134	0.2726:0.0:0.6033:0.1241	.	113	Q9H6D3	XKR8_HUMAN	Q	113	ENSP00000362991:E113Q	ENSP00000362991:E113Q	E	+	1	0	XKR8	28162638	1.000000	0.71417	0.954000	0.39281	0.804000	0.45430	2.772000	0.47678	0.316000	0.23135	-0.156000	0.13503	GAG		0.612	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1		NM_018053		15	103	0	0	0	0.00499	0	15	103		
EYA3	2140	broad.mit.edu	37	1	28365386	28365386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:28365386G>T	ENST00000373871.3	-	5	428	c.188C>A	c.(187-189)tCa>tAa	p.S63*	EYA3_ENST00000545175.1_Nonsense_Mutation_p.S10*|EYA3_ENST00000373863.3_Nonsense_Mutation_p.S63*|EYA3_ENST00000373864.1_5'UTR|EYA3_ENST00000436342.2_5'UTR|EYA3_ENST00000540618.1_Nonsense_Mutation_p.S63*|EYA3_ENST00000471498.1_5'UTR	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	63					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		ATCATTGGATGAGCGAGGGAT	0.318																																						uc001bpi.1		NaN																	0				ovary(2)|skin(1)	3						c.(187-189)TCA>TAA		eyes absent 3							94.0	94.0	94.0					1																	28365386		2203	4300	6503	SO:0001587	stop_gained	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28365386G>T	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.188C>A	1.37:g.28365386G>T	ENSP00000362978:p.Ser63*					EYA3_uc010ofs.1_Nonsense_Mutation_p.S10*|EYA3_uc010oft.1_Nonsense_Mutation_p.S63*|EYA3_uc001bpj.2_Nonsense_Mutation_p.S63*|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	p.S63*	NM_001990	NP_001981	Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	5	353	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	63					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Nonsense_Mutation	SNP	ENST00000373871.3	37	c.188C>A	CCDS316.1	.	.	.	.	.	.	.	.	.	.	G	37	6.394135	0.97533	.	.	ENSG00000158161	ENST00000373871;ENST00000540618;ENST00000545175;ENST00000373863	.	.	.	5.11	5.11	0.69529	.	0.381500	0.26919	N	0.021828	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0393	18.3327	0.90276	0.0:0.0:1.0:0.0	.	.	.	.	X	63;63;10;63	.	ENSP00000362970:S63X	S	-	2	0	EYA3	28237973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.224000	0.72265	2.651000	0.90000	0.655000	0.94253	TCA		0.318	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1		NM_001990		8	76	1	0	9.31168e-06	0.001855	9.66208e-06	8	76		
GMEB1	10691	broad.mit.edu	37	1	29030720	29030720	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:29030720C>T	ENST00000294409.2	+	8	867	c.777C>T	c.(775-777)ttC>ttT	p.F259F	GMEB1_ENST00000361872.4_Silent_p.F249F|GMEB1_ENST00000373816.1_Silent_p.F249F|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	259					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTGATGTTCTGGAAAGGAA	0.433																																						uc001bra.2		NaN																	0					0						c.(775-777)TTC>TTT		glucocorticoid modulatory element binding							129.0	129.0	129.0					1																	29030720		2203	4300	6503	SO:0001819	synonymous_variant	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29030720C>T	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.777C>T	1.37:g.29030720C>T						GMEB1_uc001bqz.2_Silent_p.F249F|GMEB1_uc001brb.2_Silent_p.F249F	p.F259F	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	8	915	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	259					B1AT48|Q9NWH1|Q9UKD0	Silent	SNP	ENST00000294409.2	37	c.777C>T	CCDS327.1																																																																																				0.433	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1		NM_006582		6	109	0	0	0	0.001168	0	6	109		
KHDRBS1	10657	broad.mit.edu	37	1	32502561	32502561	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:32502561G>C	ENST00000327300.7	+	5	989	c.822G>C	c.(820-822)ttG>ttC	p.L274F	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.L235F|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGTCCTACTTGAATGGAGTAC	0.493																																					Ovarian(173;401 1982 12359 31110 42403)	uc001bub.2		NaN																	0				ovary(1)	1						c.(820-822)TTG>TTC		KH domain containing, RNA binding, signal							136.0	129.0	131.0					1																	32502561		2203	4300	6503	SO:0001583	missense	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32502561G>C	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.822G>C	1.37:g.32502561G>C	ENSP00000313829:p.Leu274Phe					KHDRBS1_uc001bua.1_Missense_Mutation_p.L235F|KHDRBS1_uc001buc.1_RNA	p.L274F	NM_006559	NP_006550	Q07666	KHDR1_HUMAN			5	928	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	274						Missense_Mutation	SNP	ENST00000327300.7	37	c.822G>C	CCDS350.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641351	0.47153	.	.	ENSG00000121774	ENST00000327300;ENST00000492989;ENST00000355201	T;T	0.35421	1.31;1.31	5.7	3.85	0.44370	.	0.126806	0.52532	D	0.000065	T	0.51635	0.1686	M	0.78456	2.415	0.53688	D	0.999973	D;D	0.64830	0.994;0.958	P;D	0.63283	0.776;0.913	T	0.53099	-0.8486	10	0.72032	D	0.01	.	4.1097	0.10053	0.1397:0.1258:0.6047:0.1298	.	274;235	Q07666;Q07666-3	KHDR1_HUMAN;.	F	274;235;250	ENSP00000313829:L274F;ENSP00000417731:L235F	ENSP00000313829:L274F	L	+	3	2	KHDRBS1	32275148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.950000	0.56676	0.906000	0.36621	-0.149000	0.13747	TTG		0.493	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4		NM_006559		22	150	0	0	0	0.00333	0	22	150		
TRIM62	55223	broad.mit.edu	37	1	33613176	33613176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:33613176C>A	ENST00000291416.5	-	5	1263	c.1030G>T	c.(1030-1032)Gaa>Taa	p.E344*	TRIM62_ENST00000543586.1_Nonsense_Mutation_p.E223*	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	344	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CTGAAGGCTTCAGAACCCAGC	0.622																																						uc001bxb.2		NaN																	0					0						c.(1030-1032)GAA>TAA		tripartite motif-containing 62							56.0	55.0	55.0					1																	33613176		2203	4300	6503	SO:0001587	stop_gained	55223					intracellular	zinc ion binding	g.chr1:33613176C>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1030G>T	1.37:g.33613176C>A	ENSP00000291416:p.Glu344*						p.E344*	NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN			5	1668	-		Myeloproliferative disorder(586;0.0393)	344			B30.2/SPRY.		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Nonsense_Mutation	SNP	ENST00000291416.5	37	c.1030G>T	CCDS376.1	.	.	.	.	.	.	.	.	.	.	C	37	6.389177	0.97529	.	.	ENSG00000116525	ENST00000291416;ENST00000373432;ENST00000373430;ENST00000543586	.	.	.	5.74	4.83	0.62350	.	0.053580	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.2006	0.31421	0.0:0.7579:0.1582:0.0838	.	.	.	.	X	344;344;344;223	.	ENSP00000291416:E344X	E	-	1	0	TRIM62	33385763	0.995000	0.38212	0.965000	0.40720	0.982000	0.71751	3.295000	0.51794	1.427000	0.47276	0.491000	0.48974	GAA		0.622	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1		NM_018207		7	81	1	0	0.00829132	0.008291	0.00844776	7	81		
KIAA0319L	79932	broad.mit.edu	37	1	35916018	35916018	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:35916018C>T	ENST00000325722.3	-	14	2389	c.2155G>A	c.(2155-2157)Gat>Aat	p.D719N	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.D156N	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	719	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCTTGTCATCTGAGGACTTA	0.512																																						uc001byx.2		NaN																	0				skin(2)	2						c.(2155-2157)GAT>AAT		dyslexia susceptibility 2-like							138.0	121.0	127.0					1																	35916018		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35916018C>T	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2155G>A	1.37:g.35916018C>T	ENSP00000318406:p.Asp719Asn					KIAA0319L_uc001byw.2_Missense_Mutation_p.D161N|KIAA0319L_uc010ohv.1_Missense_Mutation_p.D361N	p.D719N	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			14	2413	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	719			PKD 5.|Extracellular (Potential).		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.2155G>A	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	36	5.605688	0.96626	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;D;T	0.89196	2.36;-2.48;2.36	5.87	5.87	0.94306	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (2);	0.000000	0.85682	D	0.000000	D	0.96068	0.8719	M	0.92412	3.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.998	D	0.96349	0.9257	10	0.72032	D	0.01	-12.4043	19.2028	0.93717	0.0:1.0:0.0:0.0	.	719;719;161	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	N	719;156;719	ENSP00000318406:D719N;ENSP00000362363:D156N;ENSP00000395883:D719N	ENSP00000318406:D719N	D	-	1	0	KIAA0319L	35688605	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.247000	0.78257	2.785000	0.95823	0.591000	0.81541	GAT		0.512	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2		NM_024874		13	116	0	0	0	0.001855	0	13	116		
COL8A2	1296	broad.mit.edu	37	1	36564281	36564281	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:36564281C>G	ENST00000397799.1	-	4	1225	c.1001G>C	c.(1000-1002)gGa>gCa	p.G334A	COL8A2_ENST00000303143.4_Missense_Mutation_p.G334A|COL8A2_ENST00000481785.1_Missense_Mutation_p.G269A			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	334	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCCAAGAGTCCTGGGACCCC	0.721																																						uc001bzv.1		NaN																	0				central_nervous_system(1)	1						c.(1000-1002)GGA>GCA		collagen, type VIII, alpha 2 precursor							10.0	13.0	12.0					1																	36564281		2044	3999	6043	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36564281C>G	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1001G>C	1.37:g.36564281C>G	ENSP00000380901:p.Gly334Ala					COL8A2_uc001bzw.1_Missense_Mutation_p.G269A	p.G334A	NM_005202	NP_005193	P25067	CO8A2_HUMAN			2	1008	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	334			Triple-helical region.		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.1001G>C	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739809	0.49045	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.99607	-6.27;-6.27;-6.27	3.83	3.83	0.44106	.	0.053544	0.85682	D	0.000000	D	0.99760	0.9903	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.96802	0.9590	10	0.87932	D	0	.	15.9203	0.79562	0.0:1.0:0.0:0.0	.	334	P25067	CO8A2_HUMAN	A	334;334;269	ENSP00000305913:G334A;ENSP00000380901:G334A;ENSP00000436433:G269A	ENSP00000305913:G334A	G	-	2	0	COL8A2	36336868	0.998000	0.40836	0.993000	0.49108	0.927000	0.56198	4.764000	0.62264	1.971000	0.57363	0.407000	0.27541	GGA		0.721	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1		NM_005202		4	40	0	0	0	0.001168	0	4	40		
COL8A2	1296	broad.mit.edu	37	1	36564306	36564306	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:36564306C>G	ENST00000397799.1	-	4	1200	c.976G>C	c.(976-978)Gac>Cac	p.D326H	COL8A2_ENST00000303143.4_Missense_Mutation_p.D326H|COL8A2_ENST00000481785.1_Missense_Mutation_p.D261H			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	326	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGCCCCTGTCCCCCTTGGGG	0.726																																						uc001bzv.1		NaN																	0				central_nervous_system(1)	1						c.(976-978)GAC>CAC		collagen, type VIII, alpha 2 precursor							10.0	12.0	11.0					1																	36564306		2012	4017	6029	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36564306C>G	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.976G>C	1.37:g.36564306C>G	ENSP00000380901:p.Asp326His					COL8A2_uc001bzw.1_Missense_Mutation_p.D261H	p.D326H	NM_005202	NP_005193	P25067	CO8A2_HUMAN			2	983	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	326			Triple-helical region.		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.976G>C	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093593	0.36952	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.93547	-3.24;-3.24;-3.24	3.83	3.83	0.44106	.	0.112223	0.64402	D	0.000014	D	0.95398	0.8506	M	0.67700	2.07	0.80722	D	1	D	0.67145	0.996	P	0.62089	0.898	D	0.95607	0.8668	10	0.54805	T	0.06	.	15.9203	0.79562	0.0:1.0:0.0:0.0	.	326	P25067	CO8A2_HUMAN	H	326;326;261	ENSP00000305913:D326H;ENSP00000380901:D326H;ENSP00000436433:D261H	ENSP00000305913:D326H	D	-	1	0	COL8A2	36336893	0.999000	0.42202	1.000000	0.80357	0.865000	0.49528	3.898000	0.56281	1.971000	0.57363	0.407000	0.27541	GAC		0.726	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1		NM_005202		3	32	0	0	0	0.000602	0	3	32		
CSF3R	1441	broad.mit.edu	37	1	36939118	36939118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:36939118C>G	ENST00000373106.1	-	6	1138	c.591G>C	c.(589-591)caG>caC	p.Q197H	CSF3R_ENST00000361632.4_Missense_Mutation_p.Q197H|CSF3R_ENST00000373103.1_Missense_Mutation_p.Q197H|CSF3R_ENST00000418048.2_Missense_Mutation_p.Q197H|CSF3R_ENST00000331941.5_Missense_Mutation_p.Q197H|CSF3R_ENST00000440588.2_Missense_Mutation_p.Q197H|CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000338937.5_Missense_Mutation_p.Q197H|CSF3R_ENST00000373104.1_Missense_Mutation_p.Q197H	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	197	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGCCCATATTCTGGTACAACA	0.597																																						uc001caw.1		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(589-591)CAG>CAC		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						106.0	91.0	96.0					1																	36939118		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36939118C>G	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.591G>C	1.37:g.36939118C>G	ENSP00000362198:p.Gln197His					CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.Q197H|CSF3R_uc001cax.1_Missense_Mutation_p.Q197H|CSF3R_uc001cay.1_Missense_Mutation_p.Q197H	p.Q197H	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			6	769	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	197			Fibronectin type-III 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000373106.1	37	c.591G>C	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781765	0.70222	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.52	5.52	0.82312	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58623	0.2135	M	0.73598	2.24	0.32184	N	0.579949	D;D;D;D	0.89917	1.0;0.999;0.999;0.997	D;D;P;D	0.67900	0.941;0.954;0.901;0.923	T	0.66806	-0.5830	9	0.52906	T	0.07	-10.5145	13.9703	0.64235	0.0:0.8488:0.1512:0.0	.	197;197;197;197	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	H	197	ENSP00000362198:Q197H;ENSP00000362196:Q197H;ENSP00000362195:Q197H;ENSP00000355406:Q197H;ENSP00000332180:Q197H;ENSP00000401588:Q197H;ENSP00000345013:Q197H;ENSP00000397568:Q197H	ENSP00000332180:Q197H	Q	-	3	2	CSF3R	36711705	0.896000	0.30565	0.961000	0.40146	0.943000	0.58893	1.245000	0.32790	2.607000	0.88179	0.609000	0.83330	CAG		0.597	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2		NM_156039		30	164	0	0	0	0.008361	0	30	164		
GRIK3	2899	broad.mit.edu	37	1	37271815	37271815	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:37271815G>A	ENST00000373091.3	-	14	2220	c.2204C>T	c.(2203-2205)gCg>gTg	p.A735V	GRIK3_ENST00000373093.4_Missense_Mutation_p.A735V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	735					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CATGAGCAGCGCGTAGTCGGC	0.612																																						uc001caz.2		NaN																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(2203-2205)GCG>GTG		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						170.0	131.0	144.0					1																	37271815		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37271815G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2204C>T	1.37:g.37271815G>A	ENSP00000362183:p.Ala735Val					GRIK3_uc001cba.1_Missense_Mutation_p.A735V	p.A735V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			14	2339	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	735			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.2204C>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189769	0.94923	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.18810	2.19;2.19	5.48	5.48	0.80851	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48692	-0.9013	10	0.72032	D	0.01	.	19.3336	0.94306	0.0:0.0:1.0:0.0	.	735;735	A9Z1Z8;Q13003	.;GRIK3_HUMAN	V	735	ENSP00000362183:A735V;ENSP00000362185:A735V	ENSP00000362183:A735V	A	-	2	0	GRIK3	37044402	1.000000	0.71417	0.953000	0.39169	0.785000	0.44390	9.790000	0.99075	2.566000	0.86566	0.549000	0.68633	GCG		0.612	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1		NM_000831		16	170	0	0	0	0.008871	0	16	170		
GNL2	29889	broad.mit.edu	37	1	38041280	38041280	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:38041280C>T	ENST00000373062.3	-	10	1157	c.1059G>A	c.(1057-1059)ttG>ttA	p.L353L		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	353	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TCCGACGCATCAAAGTAATAT	0.438																																						uc001cbk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1057-1059)TTG>TTA		guanine nucleotide binding protein-like 2							96.0	93.0	94.0					1																	38041280		2203	4300	6503	SO:0001819	synonymous_variant	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38041280C>T	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1059G>A	1.37:g.38041280C>T							p.L353L	NM_013285	NP_037417	Q13823	NOG2_HUMAN			10	1222	-		Myeloproliferative disorder(586;0.0393)	353			G.		Q9BWN7	Silent	SNP	ENST00000373062.3	37	c.1059G>A	CCDS421.1																																																																																				0.438	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1		NM_013285		10	67	0	0	0	0.001855	0	10	67		
SF3A3	10946	broad.mit.edu	37	1	38446330	38446330	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:38446330C>G	ENST00000373019.4	-	8	1573	c.618G>C	c.(616-618)caG>caC	p.Q206H	SF3A3_ENST00000448721.2_Missense_Mutation_p.Q153H|SF3A3_ENST00000489537.1_5'UTR	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	206					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAAGTTCATTCTGATCTTGGA	0.458																																						uc001cci.2		NaN																	0					0						c.(616-618)CAG>CAC		splicing factor 3a, subunit 3							91.0	86.0	88.0					1																	38446330		2203	4300	6503	SO:0001583	missense	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38446330C>G	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.618G>C	1.37:g.38446330C>G	ENSP00000362110:p.Gln206His					SF3A3_uc010oik.1_Missense_Mutation_p.Q153H	p.Q206H	NM_006802	NP_006793	Q12874	SF3A3_HUMAN			8	742	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	206					D3DPT5|Q15460|Q5VT87	Missense_Mutation	SNP	ENST00000373019.4	37	c.618G>C	CCDS428.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738455	0.30774	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	5.44	2.57	0.30868	.	0.102911	0.64402	D	0.000002	T	0.39963	0.1098	N	0.16368	0.405	0.51482	D	0.999925	B;B	0.26258	0.002;0.145	B;B	0.31016	0.004;0.123	T	0.12528	-1.0544	9	0.36615	T	0.2	-15.3586	9.5904	0.39543	0.0:0.7185:0.0:0.2815	.	153;206	E7EUT8;Q12874	.;SF3A3_HUMAN	H	206;153	.	ENSP00000362110:Q206H	Q	-	3	2	SF3A3	38218917	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.070000	0.57548	0.299000	0.22661	-0.361000	0.07541	CAG		0.458	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1		NM_006802		7	77	0	0	0	0.006214	0	7	77		
POU3F1	5453	broad.mit.edu	37	1	38511339	38511339	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:38511339G>C	ENST00000373012.2	-	1	1111	c.1077C>G	c.(1075-1077)ctC>ctG	p.L359L	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	359					axon ensheathment (GO:0008366)|forebrain development (GO:0030900)|keratinocyte differentiation (GO:0030216)|myelination in peripheral nervous system (GO:0022011)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGGGCACTTGAGAAAGTGGC	0.662																																						uc001ccp.1		NaN																	0					0						c.(1075-1077)CTC>CTG		POU domain, class 3, transcription factor 1							27.0	26.0	27.0					1																	38511339		2203	4300	6503	SO:0001819	synonymous_variant	5453				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:38511339G>C	L26494	CCDS30679.1	1p34.3	2011-06-20	2007-07-13		ENSG00000185668	ENSG00000185668		"""Homeoboxes / POU class"""	9214	protein-coding gene	gene with protein product		602479	"""POU domain class 3, transcription factor 1"""	OTF6		8451175	Standard	NM_002699		Approved	OCT6, SCIP	uc001ccp.1	Q03052	OTTHUMG00000000485	ENST00000373012.2:c.1077C>G	1.37:g.38511339G>C							p.L359L	NM_002699	NP_002690	Q03052	PO3F1_HUMAN			1	1112	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	359			Homeobox.		Q5TAG2	Silent	SNP	ENST00000373012.2	37	c.1077C>G	CCDS30679.1																																																																																				0.662	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001213.1		NM_002699		8	37	0	0	0	0.008291	0	8	37		
KIAA0754	643314	broad.mit.edu	37	1	39876717	39876717	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:39876717G>A	ENST00000530275.1	+	1	567	c.372G>A	c.(370-372)ccG>ccA	p.P124P	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	124										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAACCTGGCCGAGGGCCACAA	0.522											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009vvt.1		NaN																	0					0						c.(778-780)CCG>CCA		hypothetical protein LOC643314							32.0	33.0	33.0					1																	39876717		1946	4141	6087	SO:0001819	synonymous_variant	643314							g.chr1:39876717G>A			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.372G>A	1.37:g.39876717G>A			OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.P260P	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1542	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	124					E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37	c.780G>A																																																																																					0.522	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1		NM_015038		3	17	0	0	0	0.004672	0	3	17		
ZFP69	339559	broad.mit.edu	37	1	40945004	40945004	+	Splice_Site	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:40945004G>C	ENST00000372705.3	+	2	265		c.e2-1		ZFP69_ENST00000372706.1_5'UTR	NM_198494.2	NP_940896.2	Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTCCTCACCAGAAGTGGACAA	0.547																																						uc001cfo.2		NaN																	0					0						c.e2-1		zinc finger protein 642							107.0	105.0	106.0					1																	40945004		2203	4300	6503	SO:0001630	splice_region_variant	339559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40945004G>C	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372705.3:c.-29-1G>C	1.37:g.40945004G>C						ZNF642_uc009vwb.2_5'UTR|ZNF642_uc010ojk.1_Splice_Site		NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)		2	266	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)						Q5SWM5|Q6ZWK8	Splice_Site	SNP	ENST00000372705.3	37	c.-28_splice	CCDS30686.1																																																																																				0.547	ZFP69-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019083.1		NM_198494	Intron	32	162	0	0	0	0.009718	0	32	162		
ZNF684	127396	broad.mit.edu	37	1	41012608	41012608	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:41012608C>T	ENST00000372699.3	+	5	864	c.613C>T	c.(613-615)Cat>Tat	p.H205Y	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	205					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(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CCTTGCAACTCATCAGAAAAT	0.408																																						uc001cft.1		NaN																	0					0						c.(613-615)CAT>TAT		zinc finger protein 684							84.0	81.0	82.0					1																	41012608		2203	4300	6503	SO:0001583	missense	127396				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:41012608C>T		CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.613C>T	1.37:g.41012608C>T	ENSP00000361784:p.His205Tyr						p.H205Y	NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)		5	864	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	205			C2H2-type 2.		Q2NKY4	Missense_Mutation	SNP	ENST00000372699.3	37	c.613C>T	CCDS454.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456307	0.63401	.	.	ENSG00000117010	ENST00000372699	D	0.99974	-10.2	4.05	4.05	0.47172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34460	N	0.003948	D	0.99981	0.9994	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97025	0.9746	10	0.87932	D	0	.	14.094	0.65008	0.0:1.0:0.0:0.0	.	205	Q5T5D7	ZN684_HUMAN	Y	205	ENSP00000361784:H205Y	ENSP00000361784:H205Y	H	+	1	0	ZNF684	40785195	1.000000	0.71417	0.247000	0.24249	0.709000	0.40893	5.363000	0.66104	2.262000	0.75019	0.484000	0.47621	CAT		0.408	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3		NM_152373		8	65	0	0	0	0.004482	0	8	65		
CFAP57	149465	broad.mit.edu	37	1	43675708	43675708	+	Intron	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:43675708C>T	ENST00000372492.4	+	11	2253				WDR65_ENST00000528956.1_Missense_Mutation_p.H684Y	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN												NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTCATCCATCATTCATTGAA	0.393																																						uc001cip.1		NaN																	0				skin(1)	1						c.(2050-2052)CAT>TAT		WD repeat domain 65							185.0	175.0	179.0					1																	43675708		2203	4300	6503	SO:0001627	intron_variant	149465							g.chr1:43675708C>T																												ENST00000372492.4:c.1929+121C>T	1.37:g.43675708C>T						EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Intron|WDR65_uc001ciq.1_Missense_Mutation_p.H684Y	p.H684Y	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN			11	2171	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Error:Variant_position_missing_in_Q96MR6_after_alignment					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.2050C>T		.	.	.	.	.	.	.	.	.	.	c	9.964	1.223481	0.22457	.	.	ENSG00000243710	ENST00000528956	T	0.36878	1.23	4.5	1.54	0.23209	.	4.400160	0.00465	N	0.000100	T	0.24928	0.0605	.	.	.	0.09310	N	1	B	0.25105	0.118	B	0.27380	0.079	T	0.14117	-1.0484	8	.	.	.	.	4.0547	0.09811	0.1836:0.621:0.0:0.1953	.	684	Q96MR6-2	.	Y	684	ENSP00000435310:H684Y	.	H	+	1	0	WDR65	43448295	0.001000	0.12720	0.001000	0.08648	0.017000	0.09413	0.917000	0.28665	0.372000	0.24591	0.639000	0.83563	CAT		0.393	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1				5	52	0	0	0	0.001168	0	5	52		
SLC6A9	6536	broad.mit.edu	37	1	44474107	44474107	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:44474107G>A	ENST00000360584.2	-	5	918	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	SLC6A9_ENST00000372307.3_Missense_Mutation_p.R105W|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R59W|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R189W|SLC6A9_ENST00000372306.3_Missense_Mutation_p.R170W|SLC6A9_ENST00000492434.2_5'Flank|SLC6A9_ENST00000372310.3_Missense_Mutation_p.R170W|SLC6A9_ENST00000537678.1_Missense_Mutation_p.R105W	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	243					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.R170W(1)|p.R243W(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCGGCTGGCCGAGAGCCATTG	0.642																																						uc001cll.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(727-729)CGG>TGG		solute carrier family 6 member 9 isoform 2	Glycine(DB00145)						97.0	99.0	98.0					1																	44474107		2203	4300	6503	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44474107G>A	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.727C>T	1.37:g.44474107G>A	ENSP00000353791:p.Arg243Trp					SLC6A9_uc009vxe.2_Missense_Mutation_p.R99W|SLC6A9_uc010okm.1_Missense_Mutation_p.R170W|SLC6A9_uc001clm.2_Missense_Mutation_p.R189W|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.R174W|SLC6A9_uc001cln.2_Missense_Mutation_p.R170W|SLC6A9_uc010oko.1_Missense_Mutation_p.R59W|SLC6A9_uc010okp.1_RNA	p.R243W	NM_201649	NP_964012	P48067	SC6A9_HUMAN			5	919	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	243			Extracellular (Potential).		A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.727C>T	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934615	0.52866	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.77229	-1.08;-0.93;-0.82;-0.86;-0.86;-0.84;-1.02	5.73	3.82	0.43975	.	1.345120	0.04549	N	0.389603	T	0.72755	0.3500	N	0.02916	-0.46	0.30591	N	0.761564	P;P;D;P;B;D	0.67145	0.876;0.945;0.99;0.813;0.001;0.996	P;B;P;P;B;P	0.61658	0.471;0.062;0.892;0.663;0.001;0.663	T	0.68450	-0.5405	10	0.51188	T	0.08	.	9.1767	0.37116	0.0891:0.183:0.7279:0.0	.	174;170;105;170;189;243	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	W	105;170;170;59;243;189;105	ENSP00000361381:R105W;ENSP00000361380:R170W;ENSP00000361384:R170W;ENSP00000434460:R59W;ENSP00000353791:R243W;ENSP00000350362:R189W;ENSP00000442523:R105W	ENSP00000350362:R189W	R	-	1	2	SLC6A9	44246694	0.244000	0.23889	0.988000	0.46212	0.662000	0.39071	0.449000	0.21744	1.446000	0.47643	0.650000	0.86243	CGG		0.642	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2		NM_201649		20	147	0	0	0	0.004656	0	20	147		
PTCH2	8643	broad.mit.edu	37	1	45293690	45293690	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:45293690G>A	ENST00000372192.3	-	14	2013	c.1883C>T	c.(1882-1884)tCt>tTt	p.S628F	PTCH2_ENST00000447098.2_Missense_Mutation_p.S628F	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	628					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CAGTGGGTCAGAAGGTGGGGG	0.622									Basal Cell Nevus syndrome																													uc010olf.1		NaN																	0				lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(1882-1884)TCT>TTT		patched 2							63.0	69.0	67.0					1																	45293690		2203	4300	6503	SO:0001583	missense	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45293690G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1883C>T	1.37:g.45293690G>A	ENSP00000361266:p.Ser628Phe					PTCH2_uc010olg.1_Missense_Mutation_p.S326F	p.S628F	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			14	1895	-	Acute lymphoblastic leukemia(166;0.155)		628			Cytoplasmic (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.1883C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588804	0.28357	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92805	-3.1;-3.11	4.85	3.87	0.44632	.	0.153850	0.30959	N	0.008538	D	0.87204	0.6119	L	0.27053	0.805	0.09310	N	1	P;B	0.43231	0.801;0.262	B;B	0.41510	0.359;0.194	T	0.82557	-0.0398	10	0.59425	D	0.04	-32.0905	14.5139	0.67807	0.0:0.3651:0.6349:0.0	.	628;628	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	F	628	ENSP00000389703:S628F;ENSP00000361266:S628F	ENSP00000361266:S628F	S	-	2	0	PTCH2	45066277	0.485000	0.25972	0.986000	0.45419	0.726000	0.41606	2.703000	0.47110	2.226000	0.72624	0.557000	0.71058	TCT		0.622	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4		NM_003738		20	105	0	0	0	0.002299	0	20	105		
DMBX1	127343	broad.mit.edu	37	1	46972824	46972824	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:46972824G>A	ENST00000360032.3	+	1	156	c.142G>A	c.(142-144)Gag>Aag	p.E48K	DMBX1_ENST00000371956.4_Missense_Mutation_p.E48K	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TACATTGGCTGAGCGCCTGGC	0.637																																						uc001cpx.2		NaN																	0				ovary(1)	1						c.(142-144)GAG>AAG		diencephalon/mesencephalon homeobox 1 isoform b							38.0	36.0	36.0					1																	46972824		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46972824G>A	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.142G>A	1.37:g.46972824G>A	ENSP00000353132:p.Glu48Lys					DMBX1_uc001cpw.2_Missense_Mutation_p.E48K	p.E48K	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN			1	157	+	Acute lymphoblastic leukemia(166;0.155)		48			Interacts with OXT2 and is required for repressor activity (By similarity).			Missense_Mutation	SNP	ENST00000360032.3	37	c.142G>A	CCDS536.1	.	.	.	.	.	.	.	.	.	.	G	34	5.350380	0.95830	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.93906	-3.24;-3.31	5.25	5.25	0.73442	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93572	0.7948	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.985;0.994	D	0.92020	0.5625	10	0.22706	T	0.39	.	17.8482	0.88737	0.0:0.0:1.0:0.0	.	48;48	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	K	48	ENSP00000361024:E48K;ENSP00000353132:E48K	ENSP00000353132:E48K	E	+	1	0	DMBX1	46745411	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.618000	0.98365	2.453000	0.82957	0.655000	0.94253	GAG		0.637	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1				10	40	0	0	0	0.008291	0	10	40		
SPATA6	54558	broad.mit.edu	37	1	48918750	48918750	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:48918750G>A	ENST00000371847.3	-	2	269	c.105C>T	c.(103-105)atC>atT	p.I35I	SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000371843.3_Silent_p.I35I|SPATA6_ENST00000396199.3_5'UTR	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	35					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CAAACACACAGATGCTAAGAT	0.393																																						uc001crr.1		NaN																	0				ovary(1)	1						c.(103-105)ATC>ATT		spermatogenesis associated 6 precursor							150.0	141.0	144.0					1																	48918750		2203	4300	6503	SO:0001819	synonymous_variant	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48918750G>A	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.105C>T	1.37:g.48918750G>A						SPATA6_uc001crs.1_Silent_p.I35I|SPATA6_uc010omv.1_Silent_p.I35I|SPATA6_uc001crt.2_5'UTR	p.I35I	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN			2	270	-			35					Q5T3N7|Q8WUE6	Silent	SNP	ENST00000371847.3	37	c.105C>T	CCDS551.1																																																																																				0.393	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1		NM_019073		8	64	0	0	0	0.010729	0	8	64		
ZFYVE9	9372	broad.mit.edu	37	1	52704969	52704969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:52704969C>T	ENST00000371591.1	+	3	2011	c.1880C>T	c.(1879-1881)tCa>tTa	p.S627L	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S627L|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.S627L	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	627					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GGGGAAAACTCAGCAACCAAT	0.358																																						uc001cto.2		NaN																	0				ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(1879-1881)TCA>TTA		zinc finger, FYVE domain containing 9 isoform 3							89.0	90.0	90.0					1																	52704969		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52704969C>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1880C>T	1.37:g.52704969C>T	ENSP00000360647:p.Ser627Leu					ZFYVE9_uc001ctn.2_Missense_Mutation_p.S627L|ZFYVE9_uc001ctp.2_Missense_Mutation_p.S627L	p.S627L	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	2052	+			627					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.1880C>T	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	9.722	1.159992	0.21454	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.52057	1.16;0.68;1.14;1.14	4.97	4.97	0.65823	.	0.296820	0.23332	N	0.049325	T	0.30885	0.0779	N	0.08118	0	0.26431	N	0.975948	B;B;P	0.42518	0.002;0.002;0.782	B;B;B	0.43658	0.003;0.004;0.426	T	0.12528	-1.0544	10	0.21540	T	0.41	.	13.145	0.59456	0.0:0.9205:0.0:0.0795	.	627;627;627	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	L	627	ENSP00000349737:S627L;ENSP00000355358:S627L;ENSP00000287727:S627L;ENSP00000360647:S627L	ENSP00000287727:S627L	S	+	2	0	ZFYVE9	52477557	0.911000	0.30947	1.000000	0.80357	0.976000	0.68499	1.335000	0.33839	2.749000	0.94314	0.655000	0.94253	TCA		0.358	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1		NM_007324		12	74	0	0	0	0.00245	0	12	74		
MROH7	374977	broad.mit.edu	37	1	55119580	55119580	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:55119580G>A	ENST00000421030.2	+	3	1266	c.981G>A	c.(979-981)atG>atA	p.M327I	MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000339553.5_Missense_Mutation_p.M327I|MROH7_ENST00000395690.2_Missense_Mutation_p.M327I|MROH7_ENST00000409996.1_Intron|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.M327I|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000545244.1_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	327	Ser-rich.					extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CCTCATGCATGACTCTAATCC	0.562																																						uc010ooe.1		NaN																	0					0						c.(979-981)ATG>ATA		hypothetical protein LOC374977							126.0	122.0	123.0					1																	55119580		2154	4242	6396	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55119580G>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.981G>A	1.37:g.55119580G>A	ENSP00000396622:p.Met327Ile					C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Missense_Mutation_p.M327I|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.M327I|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	p.M327I	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			3	1305	+			327			Ser-rich.		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.981G>A	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	G	6.952	0.545554	0.13312	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.04551	3.6;3.6;3.6	3.49	3.49	0.39957	.	0.313394	0.23149	N	0.051372	T	0.03695	0.0105	L	0.27053	0.805	0.40870	D	0.983904	B;B;B	0.32829	0.034;0.015;0.386	B;B;B	0.21708	0.015;0.006;0.036	T	0.46816	-0.9164	10	0.87932	D	0	.	10.7864	0.46407	0.0:0.0:1.0:0.0	.	327;327;327	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	I	327	ENSP00000396622:M327I;ENSP00000343211:M327I;ENSP00000379044:M327I	ENSP00000343211:M327I	M	+	3	0	HEATR8	54892168	1.000000	0.71417	0.166000	0.22797	0.043000	0.13939	3.817000	0.55668	2.251000	0.74343	0.561000	0.74099	ATG		0.562	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1		NM_198547		10	167	0	0	0	0.010504	0	10	167		
MROH7	374977	broad.mit.edu	37	1	55139782	55139782	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:55139782G>A	ENST00000421030.2	+	10	2179	c.1894G>A	c.(1894-1896)Gac>Aac	p.D632N	MROH7_ENST00000339553.5_Missense_Mutation_p.D632N|MROH7_ENST00000395690.2_Missense_Mutation_p.D632N|MROH7_ENST00000409996.1_Missense_Mutation_p.D200N|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.D632N|MROH7_ENST00000454855.2_Missense_Mutation_p.D150N|MROH7_ENST00000545244.1_Missense_Mutation_p.D200N	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	632						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TGAGGCTCTGGACGGCATCAT	0.527																																						uc010ooe.1		NaN																	0					0						c.(1894-1896)GAC>AAC		hypothetical protein LOC374977							119.0	124.0	123.0					1																	55139782		1964	4167	6131	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55139782G>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1894G>A	1.37:g.55139782G>A	ENSP00000396622:p.Asp632Asn					C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.D200N|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.D150N|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.D632N|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	p.D632N	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			10	2218	+			632					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.1894G>A	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180055	0.78564	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.06142	3.34;3.34;3.34;3.34;3.34;3.34	4.73	4.73	0.59995	.	0.237777	0.29335	N	0.012452	T	0.17577	0.0422	M	0.64997	1.995	0.35575	D	0.805796	D;P;D	0.61697	0.99;0.867;0.989	P;P;P	0.58266	0.836;0.544;0.836	T	0.06752	-1.0809	10	0.52906	T	0.07	-21.9791	13.3852	0.60791	0.0:0.0:1.0:0.0	.	632;632;200	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	N	632;200;661;632;200;150;632	ENSP00000396622:D632N;ENSP00000442333:D200N;ENSP00000343211:D632N;ENSP00000387048:D200N;ENSP00000401130:D150N;ENSP00000379044:D632N	ENSP00000343211:D632N	D	+	1	0	HEATR8	54912370	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	4.522000	0.60539	2.230000	0.72887	0.551000	0.68910	GAC		0.527	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1		NM_198547		19	148	0	0	0	0.012319	0	19	148		
TMEM61	199964	broad.mit.edu	37	1	55457567	55457567	+	Missense_Mutation	SNP	G	G	A	rs201375691		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:55457567G>A	ENST00000371268.3	+	3	698	c.424G>A	c.(424-426)Gag>Aag	p.E142K	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	142						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						CCCAGTGGCCGAGGGGCCCCC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17426	0.001		0.0	False		,,,				2504	0.0					uc001cyd.2		NaN																	0					0						c.(424-426)GAG>AAG		transmembrane protein 61							83.0	78.0	80.0					1																	55457567		2203	4300	6503	SO:0001583	missense	199964					integral to membrane		g.chr1:55457567G>A	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.424G>A	1.37:g.55457567G>A	ENSP00000360315:p.Glu142Lys						p.E142K	NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN			3	698	+			142						Missense_Mutation	SNP	ENST00000371268.3	37	c.424G>A	CCDS601.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.29	3.082805	0.55861	.	.	ENSG00000143001	ENST00000371268	T	0.49432	0.78	3.64	3.64	0.41730	.	0.544741	0.16603	N	0.207260	T	0.37732	0.1014	L	0.27053	0.805	0.09310	N	1	D	0.54047	0.964	P	0.46452	0.517	T	0.15321	-1.0441	10	0.46703	T	0.11	-9.0174	9.3729	0.38266	0.0:0.2187:0.7813:0.0	.	142	Q8N0U2	TMM61_HUMAN	K	142	ENSP00000360315:E142K	ENSP00000360315:E142K	E	+	1	0	TMEM61	55230155	0.053000	0.20554	0.011000	0.14972	0.006000	0.05464	3.001000	0.49488	2.335000	0.79485	0.462000	0.41574	GAG		0.647	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1		NM_182532		18	139	0	0	0	0.010504	0	18	139		
DOCK7	85440	broad.mit.edu	37	1	63005436	63005436	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:63005436G>A	ENST00000340370.5	-	25	3097	c.3080C>T	c.(3079-3081)tCa>tTa	p.S1027L	DOCK7_ENST00000251157.5_Missense_Mutation_p.S1058L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1058					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTGAAATCGTGAAACTATATC	0.343																																						uc001daq.2		NaN																	0				ovary(2)	2						c.(3172-3174)TCA>TTA		dedicator of cytokinesis 7							82.0	81.0	82.0					1																	63005436		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63005436G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3080C>T	1.37:g.63005436G>A	ENSP00000340742:p.Ser1027Leu					DOCK7_uc001dan.2_Missense_Mutation_p.S919L|DOCK7_uc001dao.2_Missense_Mutation_p.S919L|DOCK7_uc001dap.2_Missense_Mutation_p.S1027L|DOCK7_uc001dam.2_Missense_Mutation_p.S238L	p.S1058L	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			26	3207	-			1058					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.3173C>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.540283	0.65085	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.26518	1.73;1.73	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	L	0.41492	1.28	0.58432	D	0.999996	B;B;B;B;B	0.26081	0.036;0.141;0.043;0.036;0.018	B;B;B;B;B	0.31290	0.127;0.087;0.1;0.127;0.088	T	0.02705	-1.1121	10	0.39692	T	0.17	.	19.5721	0.95425	0.0:0.0:1.0:0.0	.	1058;1027;1027;1027;1058	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.;.;.;.;.	L	1058;1058;1027	ENSP00000251157:S1058L;ENSP00000340742:S1027L	ENSP00000251157:S1058L	S	-	2	0	DOCK7	62778024	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.442000	0.73443	2.857000	0.98124	0.650000	0.86243	TCA		0.343	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1		NM_033407		3	23	0	0	0	0.004672	0	3	23		
JAK1	3716	broad.mit.edu	37	1	65303766	65303766	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:65303766G>A	ENST00000342505.4	-	22	3237	c.2989C>T	c.(2989-2991)Cgg>Tgg	p.R997W		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	997	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACGTATTGCCGAGAACCCAAA	0.398			Mis		ALL																																	uc001dbu.1		NaN		Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61						c.(2989-2991)CGG>TGG		janus kinase 1							63.0	57.0	59.0					1																	65303766		1875	4111	5986	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65303766G>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2989C>T	1.37:g.65303766G>A	ENSP00000343204:p.Arg997Trp					JAK1_uc009wam.1_Missense_Mutation_p.R985W|JAK1_uc009wal.1_Missense_Mutation_p.R174W	p.R997W	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	22	3238	-			997			Protein kinase 2.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2989C>T	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942508	0.73672	.	.	ENSG00000162434	ENST00000342505	D	0.83591	-1.74	5.23	3.22	0.36961	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.74928	0.3781	M	0.82323	2.585	0.45979	D	0.998794	B	0.30068	0.267	B	0.19946	0.027	T	0.80197	-0.1482	9	0.72032	D	0.01	-1.9791	12.0649	0.53581	0.2084:0.0:0.7916:0.0	.	997	P23458	JAK1_HUMAN	W	997	ENSP00000343204:R997W	ENSP00000343204:R997W	R	-	1	2	JAK1	65076354	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	2.964000	0.49192	1.422000	0.47177	0.650000	0.86243	CGG		0.398	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1		NM_002227		6	45	0	0	0	0.001984	0	6	45		
WLS	79971	broad.mit.edu	37	1	68564388	68564388	+	Missense_Mutation	SNP	G	G	A	rs370144214		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:68564388G>A	ENST00000354777.2	-	12	1804	c.1559C>T	c.(1558-1560)tCg>tTg	p.S520L	GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000540432.1_Missense_Mutation_p.S522L|GNG12-AS1_ENST00000420587.1_RNA	NM_001002292.3	NP_001002292.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	0					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						ataaagttccgaaacaaacaa	0.348																																						uc001dee.2		NaN																	0					0						c.(1558-1560)TCG>TTG		G protein-coupled receptor 177 isoform 2		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	119.0	112.0	114.0		1559	0.2	0.0	1		114	0,8600		0,0,4300	no	missense	WLS	NM_001002292.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		520/544	68564388	1,13005	2203	4300	6503	SO:0001583	missense	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68564388G>A	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000354777.2:c.1559C>T	1.37:g.68564388G>A	ENSP00000346829:p.Ser520Leu					uc001deb.1_RNA|uc001dec.1_RNA	p.S520L	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN			12	1830	-			Error:Variant_position_missing_in_Q5T9L3_after_alignment					B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	ENST00000354777.2	37	c.1559C>T	CCDS30750.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042905	0.55003	2.27E-4	0.0	ENSG00000116729	ENST00000540432;ENST00000354777	T;T	0.46063	0.88;0.88	2.25	0.202	0.15190	.	0.226317	0.44483	D	0.000460	T	0.05547	0.0146	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35001	-0.9806	10	0.27082	T	0.32	-22.2534	2.8995	0.05701	0.1619:0.0:0.5725:0.2657	.	520	Q5T9L3-2	.	L	522;520	ENSP00000446112:S522L;ENSP00000346829:S520L	ENSP00000346829:S520L	S	-	2	0	WLS	68336976	0.027000	0.19231	0.001000	0.08648	0.618000	0.37518	0.224000	0.17738	0.041000	0.15688	0.563000	0.77884	TCG		0.348	WLS-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025370.1		NM_024911		3	44	0	0	0	0.000602	0	3	44		
FUBP1	8880	broad.mit.edu	37	1	78444569	78444569	+	Splice_Site	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:78444569C>T	ENST00000370768.2	-	1	201	c.120G>A	c.(118-120)caG>caA	p.Q40Q	FUBP1_ENST00000370767.1_Splice_Site_p.Q40Q|FUBP1_ENST00000436586.2_Splice_Site_p.Q40Q	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	40					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCACACTTACCTGCCGGGCTC	0.612			"""F, N"""		oligodendroglioma																																	uc001dii.2		NaN		Rec	yes		1	1p13.1	8880		far upstream element (FUSE) binding protein 1			O					0				central_nervous_system(2)|lung(1)	3						c.(118-120)CAG>CAA		far upstream element-binding protein							119.0	132.0	128.0					1																	78444569		2203	4300	6503	SO:0001630	splice_region_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78444569C>T	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.120+1G>A	1.37:g.78444569C>T						FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Silent_p.Q40Q|DNAJB4_uc010orn.1_5'Flank	p.Q40Q	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN			1	209	-			40					Q12828	Silent	SNP	ENST00000370768.2	37	c.120G>A	CCDS683.1																																																																																				0.612	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3		NM_003902	Silent	47	397	0	0	0	0.00361	0	47	397		
MCOLN3	55283	broad.mit.edu	37	1	85498382	85498382	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:85498382C>T	ENST00000370589.2	-	6	781	c.729G>A	c.(727-729)ctG>ctA	p.L243L	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.L187L|MCOLN3_ENST00000370587.1_Silent_p.L243L	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	243					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CACTTACAGTCAGAGTAAAGT	0.388																																						uc001dkp.2		NaN																	0				skin(1)	1						c.(727-729)CTG>CTA		mucolipin 3							154.0	148.0	150.0					1																	85498382		2203	4300	6503	SO:0001819	synonymous_variant	55283					integral to membrane	ion channel activity	g.chr1:85498382C>T	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.729G>A	1.37:g.85498382C>T						MCOLN3_uc001dkq.2_Silent_p.L187L|MCOLN3_uc001dkr.2_Silent_p.L243L|MCOLN3_uc001dks.3_Silent_p.L88L	p.L243L	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	6	822	-			243					Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	ENST00000370589.2	37	c.729G>A	CCDS701.1																																																																																				0.388	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2		NM_018298		33	252	0	0	0	0.00361	0	33	252		
ABCA4	24	broad.mit.edu	37	1	94568588	94568588	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:94568588G>C	ENST00000370225.3	-	5	639	c.553C>G	c.(553-555)Caa>Gaa	p.Q185E	ABCA4_ENST00000535735.1_Missense_Mutation_p.Q185E	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	185					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGACGGACTTGAGAGTTGATC	0.473																																						uc001dqh.2		NaN																	0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(553-555)CAA>GAA		ATP-binding cassette, sub-family A member 4							199.0	185.0	190.0					1																	94568588		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94568588G>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.553C>G	1.37:g.94568588G>C	ENSP00000359245:p.Gln185Glu					ABCA4_uc010otn.1_Missense_Mutation_p.Q185E	p.Q185E	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	5	657	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	185			Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.553C>G	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289734	0.23478	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91068	-2.66;-2.78	5.42	5.42	0.78866	.	0.128389	0.52532	D	0.000064	T	0.81187	0.4770	L	0.57536	1.79	0.53005	D	0.999963	B;P	0.45531	0.069;0.86	B;B	0.34489	0.062;0.184	T	0.82874	-0.0241	10	0.10111	T	0.7	.	18.8625	0.92278	0.0:0.0:1.0:0.0	.	185;185	F5H6E5;P78363	.;ABCA4_HUMAN	E	185	ENSP00000359245:Q185E;ENSP00000437682:Q185E	ENSP00000359245:Q185E	Q	-	1	0	ABCA4	94341176	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	6.904000	0.75708	2.542000	0.85734	0.655000	0.94253	CAA		0.473	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1		NM_000350		29	200	0	0	0	0.003271	0	29	200		
PTBP2	58155	broad.mit.edu	37	1	97278438	97278438	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:97278438C>G	ENST00000426398.2	+	12	1385	c.1342C>G	c.(1342-1344)Caa>Gaa	p.Q448E	PTBP2_ENST00000394184.3_Missense_Mutation_p.Q464E|PTBP2_ENST00000609116.1_Missense_Mutation_p.Q448E|PTBP2_ENST00000370198.1_Missense_Mutation_p.Q453E|PTBP2_ENST00000370197.1_Missense_Mutation_p.Q453E|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000482253.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	448					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CAAAAATTTTCAAAACATTTT	0.358																																						uc001drq.2		NaN																	0					0						c.(1342-1344)CAA>GAA		polypyrimidine tract binding protein 2							63.0	66.0	65.0					1																	97278438		2201	4298	6499	SO:0001583	missense	58155						nucleotide binding	g.chr1:97278438C>G	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1342C>G	1.37:g.97278438C>G	ENSP00000412788:p.Gln448Glu					PTBP2_uc001drn.2_Missense_Mutation_p.Q453E|PTBP2_uc001dro.2_Missense_Mutation_p.Q448E|PTBP2_uc010otz.1_Missense_Mutation_p.Q464E|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.Q396E|PTBP2_uc001drr.2_Missense_Mutation_p.Q453E|PTBP2_uc010oua.1_Missense_Mutation_p.Q456E|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_Missense_Mutation_p.Q67E|PTBP2_uc001drt.2_Missense_Mutation_p.Q67E	p.Q448E	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	12	1588	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	448					Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.1342C>G	CCDS754.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220098	0.58560	.	.	ENSG00000117569	ENST00000236228;ENST00000543738;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184	T;T;T;T;T	0.45276	0.97;0.9;0.91;0.96;0.9	5.16	5.16	0.70880	Nucleotide-binding, alpha-beta plait (1);	0.050687	0.85682	D	0.000000	T	0.52419	0.1733	M	0.87038	2.855	0.80722	D	1	B;B;B;B;B;B;B	0.29432	0.181;0.009;0.02;0.015;0.038;0.244;0.136	B;B;B;B;B;B;B	0.41666	0.363;0.008;0.016;0.018;0.106;0.225;0.225	T	0.59894	-0.7368	10	0.72032	D	0.01	-1.5171	19.0112	0.92874	0.0:1.0:0.0:0.0	.	456;464;120;453;448;448;453	B4DSU5;B4DSS8;B4DSI2;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;.;PTBP2_HUMAN;.;.	E	448;120;453;453;448;464	ENSP00000236228:Q448E;ENSP00000359217:Q453E;ENSP00000359216:Q453E;ENSP00000412788:Q448E;ENSP00000377738:Q464E	ENSP00000236228:Q448E	Q	+	1	0	PTBP2	97051026	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.031000	0.70911	2.555000	0.86185	0.557000	0.71058	CAA		0.358	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1				3	34	0	0	0	0.009096	0	3	34		
PTBP2	58155	broad.mit.edu	37	1	97278881	97278881	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:97278881C>G	ENST00000426398.2	+	14	1559	c.1516C>G	c.(1516-1518)Cag>Gag	p.Q506E	PTBP2_ENST00000394184.3_Missense_Mutation_p.Q523E|PTBP2_ENST00000609116.1_Missense_Mutation_p.Q507E|PTBP2_ENST00000370198.1_Missense_Mutation_p.Q511E|PTBP2_ENST00000370197.1_Missense_Mutation_p.Q512E|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000482253.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	506	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AGAAGCTATTCAGGCCTTGAT	0.348																																						uc001drq.2		NaN																	0					0						c.(1516-1518)CAG>GAG		polypyrimidine tract binding protein 2							72.0	81.0	78.0					1																	97278881		2203	4300	6503	SO:0001583	missense	58155						nucleotide binding	g.chr1:97278881C>G	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1516C>G	1.37:g.97278881C>G	ENSP00000412788:p.Gln506Glu					PTBP2_uc001drn.2_Missense_Mutation_p.Q512E|PTBP2_uc001dro.2_Missense_Mutation_p.Q507E|PTBP2_uc010otz.1_Missense_Mutation_p.Q523E|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.Q455E|PTBP2_uc001drr.2_Missense_Mutation_p.Q511E|PTBP2_uc010oua.1_Missense_Mutation_p.Q515E|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_Missense_Mutation_p.Q126E|PTBP2_uc001drt.2_Missense_Mutation_p.Q125E	p.Q506E	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	14	1762	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	506			RRM 4.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.1516C>G	CCDS754.1	.	.	.	.	.	.	.	.	.	.	C	9.668	1.145848	0.21288	.	.	ENSG00000117569	ENST00000236228;ENST00000543738;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	5.5	4.59	0.56863	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.105241	0.64402	D	0.000003	T	0.04588	0.0125	N	0.10618	0.005	0.80722	D	1	B;B;P;B;B;B;B	0.37398	0.0;0.001;0.593;0.0;0.0;0.0;0.0	B;B;P;B;B;B;B	0.54238	0.003;0.002;0.746;0.001;0.005;0.002;0.002	T	0.55315	-0.8160	10	0.17369	T	0.5	-1.3802	14.383	0.66923	0.0:0.9287:0.0:0.0713	.	515;523;179;511;506;507;512	B4DSU5;B4DSS8;B4DSI2;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;.;PTBP2_HUMAN;.;.	E	507;179;511;512;506;523	ENSP00000236228:Q507E;ENSP00000359217:Q511E;ENSP00000359216:Q512E;ENSP00000412788:Q506E;ENSP00000377738:Q523E	ENSP00000236228:Q507E	Q	+	1	0	PTBP2	97051469	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.997000	0.70646	1.449000	0.47699	0.650000	0.86243	CAG		0.348	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1				7	47	0	0	0	0.004482	0	7	47		
DPYD	1806	broad.mit.edu	37	1	97839142	97839142	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:97839142C>T	ENST00000370192.3	-	16	2133	c.2033G>A	c.(2032-2034)aGa>aAa	p.R678K		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	678					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GCCCATTCCTCTTTCTCCCAT	0.453																																						uc001drv.2		NaN																	0				ovary(3)|skin(3)|breast(2)	8						c.(2032-2034)AGA>AAA		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						66.0	62.0	63.0					1																	97839142		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97839142C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2033G>A	1.37:g.97839142C>T	ENSP00000359211:p.Arg678Lys						p.R678K	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	16	2170	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	678			Uracil binding (Potential).		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2033G>A	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518629	0.64634	.	.	ENSG00000188641	ENST00000370192	T	0.75589	-0.95	5.57	5.57	0.84162	Aldolase-type TIM barrel (1);	0.045515	0.85682	D	0.000000	T	0.49508	0.1561	N	0.20986	0.625	0.80722	D	1	B	0.09022	0.002	B	0.14578	0.011	T	0.49194	-0.8965	10	0.15066	T	0.55	-24.9021	19.9003	0.96983	0.0:1.0:0.0:0.0	.	678	Q12882	DPYD_HUMAN	K	678	ENSP00000359211:R678K	ENSP00000359211:R678K	R	-	2	0	DPYD	97611730	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.094000	0.76944	2.776000	0.95493	0.585000	0.79938	AGA		0.453	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3		NM_000110		5	58	0	0	0	0.004482	0	5	58		
TRMT13	54482	broad.mit.edu	37	1	100613836	100613836	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:100613836G>A	ENST00000370141.2	+	10	1210	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	402					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AGAGCATGATGATGGAGGATA	0.388																																						uc001dsv.2		NaN																	0				ovary(1)	1						c.(1204-1206)GAT>AAT		coiled-coil domain containing 76							134.0	129.0	131.0					1																	100613836		2203	4300	6503	SO:0001583	missense	54482				tRNA processing		metal ion binding|methyltransferase activity	g.chr1:100613836G>A	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.1204G>A	1.37:g.100613836G>A	ENSP00000359160:p.Asp402Asn					CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Intron	p.D402N	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)	10	1223	+		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	402					Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.1204G>A	CCDS765.1	.	.	.	.	.	.	.	.	.	.	G	9.598	1.127895	0.20959	.	.	ENSG00000122435	ENST00000370141	T	0.42131	0.98	5.75	3.84	0.44239	Methyltransferase TRM13 (1);	1.161450	0.05907	N	0.631041	T	0.13372	0.0324	N	0.17082	0.46	0.09310	N	0.999998	B	0.18013	0.025	B	0.22152	0.038	T	0.27971	-1.0058	10	0.21540	T	0.41	-0.0118	12.3873	0.55338	0.0796:0.168:0.7524:0.0	.	402	Q9NUP7	TRM13_HUMAN	N	402	ENSP00000359160:D402N	ENSP00000359160:D402N	D	+	1	0	CCDC76	100386424	0.010000	0.17322	0.166000	0.22797	0.002000	0.02628	1.235000	0.32671	1.445000	0.47624	-0.136000	0.14681	GAT		0.388	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1		NM_019083		19	140	0	0	0	0.004656	0	19	140		
GPR88	54112	broad.mit.edu	37	1	101004982	101004982	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:101004982C>T	ENST00000315033.4	+	2	899	c.460C>T	c.(460-462)Cag>Tag	p.Q154*		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	154					G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuronal action potential (GO:0019228)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		GGCGCTGTACCAGAGGCGCCA	0.756																																						uc001dth.2		NaN																	0					0						c.(460-462)CAG>TAG		G-protein coupled receptor 88							10.0	13.0	12.0					1																	101004982		2059	4220	6279	SO:0001587	stop_gained	54112					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:101004982C>T	AB042411	CCDS772.1	1p21.3	2012-08-21	2006-02-15		ENSG00000181656	ENSG00000181656		"""GPCR / Class A : Orphans"""	4539	protein-coding gene	gene with protein product		607468	"""G-protein coupled receptor 88"", ""G protein coupled receptor 88"""				Standard	NM_022049		Approved		uc001dth.3	Q9GZN0	OTTHUMG00000010981	ENST00000315033.4:c.460C>T	1.37:g.101004982C>T	ENSP00000314223:p.Gln154*						p.Q154*	NM_022049	NP_071332	Q9GZN0	GPR88_HUMAN		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)	2	864	+		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)	154			Cytoplasmic (Potential).		Q29S24|Q6VN48	Nonsense_Mutation	SNP	ENST00000315033.4	37	c.460C>T	CCDS772.1	.	.	.	.	.	.	.	.	.	.	C	36	5.895349	0.97074	.	.	ENSG00000181656	ENST00000315033	.	.	.	4.62	4.62	0.57501	.	0.000000	0.45126	U	0.000388	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-7.7299	17.7289	0.88372	0.0:1.0:0.0:0.0	.	.	.	.	X	154	.	ENSP00000314223:Q154X	Q	+	1	0	GPR88	100777570	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	5.108000	0.64609	2.401000	0.81631	0.558000	0.71614	CAG		0.756	GPR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030212.1		NM_022049		3	21	0	0	0	0.004672	0	3	21		
VCAM1	7412	broad.mit.edu	37	1	101194797	101194797	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:101194797C>G	ENST00000294728.2	+	5	1164	c.1063C>G	c.(1063-1065)Ctg>Gtg	p.L355V	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.L293V	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	355	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGACAGCCCTCTGAGCGGGAA	0.527																																						uc001dti.2		NaN																	0				central_nervous_system(1)	1						c.(1063-1065)CTG>GTG		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)						107.0	108.0	108.0					1																	101194797		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101194797C>G	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1063C>G	1.37:g.101194797C>G	ENSP00000294728:p.Leu355Val					VCAM1_uc001dtj.2_Intron|VCAM1_uc010ouj.1_Missense_Mutation_p.L293V	p.L355V	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	5	1183	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	355			Ig-like C2-type 4.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.1063C>G	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849667	0.32699	.	.	ENSG00000162692	ENST00000370119;ENST00000294728	T;T	0.70631	-0.5;-0.5	5.41	4.46	0.54185	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.075770	0.53938	D	0.000046	T	0.74160	0.3680	M	0.85542	2.76	0.80722	D	1	P;D	0.76494	0.75;0.999	B;D	0.71656	0.403;0.974	T	0.72947	-0.4137	10	0.13108	T	0.6	-11.6025	6.561	0.22485	0.1509:0.7065:0.0:0.1426	.	293;355	E9PDD1;P19320	.;VCAM1_HUMAN	V	293;355	ENSP00000359137:L293V;ENSP00000294728:L355V	ENSP00000294728:L355V	L	+	1	2	VCAM1	100967385	0.991000	0.36638	0.959000	0.39883	0.280000	0.26924	1.429000	0.34903	2.826000	0.97356	0.655000	0.94253	CTG		0.527	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1		NM_001078		7	49	0	0	0	0.004482	0	7	49		
SLC30A7	148867	broad.mit.edu	37	1	101361836	101361836	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:101361836C>G	ENST00000370112.4	+	1	205	c.18C>G	c.(16-18)atC>atG	p.I6M	EXTL2_ENST00000535414.1_5'Flank|EXTL2_ENST00000480774.1_5'Flank|RP4-549L20.3_ENST00000609247.1_RNA|EXTL2_ENST00000370114.3_5'Flank|SLC30A7_ENST00000357650.4_Missense_Mutation_p.I6M|EXTL2_ENST00000370113.3_5'Flank	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	6					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		CCCTGTCCATCAAAGACGATG	0.587																																					NSCLC(91;473 1491 3102 16827 21633)	uc001dtn.2		NaN																	0					0						c.(16-18)ATC>ATG		zinc transporter like 2							95.0	95.0	95.0					1																	101361836		2203	4300	6503	SO:0001583	missense	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101361836C>G	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.18C>G	1.37:g.101361836C>G	ENSP00000359130:p.Ile6Met					EXTL2_uc001dtk.1_5'Flank|EXTL2_uc001dtl.1_5'Flank|EXTL2_uc010ouk.1_5'Flank|EXTL2_uc001dtm.1_5'Flank|SLC30A7_uc001dto.2_Missense_Mutation_p.I6M	p.I6M	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	1	205	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	6			Cytoplasmic (Potential).		B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	37	c.18C>G	CCDS776.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824155	0.32237	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.64085	-0.08;-0.08	4.91	4.91	0.64330	.	0.099205	0.64402	D	0.000002	T	0.34279	0.0892	L	0.44542	1.39	0.58432	D	0.999995	P	0.40107	0.703	B	0.32533	0.147	T	0.32903	-0.9889	10	0.34782	T	0.22	-7.3891	10.0725	0.42341	0.0:0.8453:0.0:0.1547	.	6	Q8NEW0	ZNT7_HUMAN	M	6	ENSP00000359130:I6M;ENSP00000350278:I6M	ENSP00000350278:I6M	I	+	3	3	SLC30A7	101134424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.354000	0.34056	2.535000	0.85469	0.655000	0.94253	ATC		0.587	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1		NM_133496		12	95	0	0	0	0.003163	0	12	95		
S1PR1	1901	broad.mit.edu	37	1	101705413	101705413	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:101705413C>T	ENST00000305352.6	+	2	1248	c.873C>T	c.(871-873)ttC>ttT	p.F291F		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	291					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ACATCCTCTTCAGAGCGGAGT	0.552																																						uc001dud.2		NaN																	0				ovary(2)|lung(1)	3						c.(871-873)TTC>TTT		sphingosine-1-phosphate receptor 1							201.0	201.0	201.0					1																	101705413		2203	4300	6503	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705413C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.873C>T	1.37:g.101705413C>T						S1PR1_uc009weg.2_Silent_p.F291F	p.F291F	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	1387	+			291			Extracellular (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.873C>T	CCDS777.1																																																																																				0.552	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1		NM_001400		54	468	0	0	0	0.00361	0	54	468		
AHCYL1	10768	broad.mit.edu	37	1	110555027	110555027	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:110555027G>A	ENST00000369799.5	+	4	787	c.420G>A	c.(418-420)gaG>gaA	p.E140E	AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000359172.3_Silent_p.E93E|AHCYL1_ENST00000393614.4_Silent_p.E93E	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	140					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTCAGGGGGAGAAGCCCTTGG	0.493																																						uc001dyx.2		NaN																	0				ovary(1)	1						c.(418-420)GAG>GAA		S-adenosylhomocysteine hydrolase-like 1							88.0	90.0	90.0					1																	110555027		2203	4300	6503	SO:0001819	synonymous_variant	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110555027G>A	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.420G>A	1.37:g.110555027G>A						AHCYL1_uc010ovw.1_Silent_p.E93E|AHCYL1_uc001dyy.2_Silent_p.E93E|AHCYL1_uc010ovx.1_Silent_p.E93E	p.E140E	NM_006621	NP_006612	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	4	787	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	140					B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Silent	SNP	ENST00000369799.5	37	c.420G>A	CCDS818.1																																																																																				0.493	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1				9	76	0	0	0	0.001368	0	9	76		
SLC6A17	388662	broad.mit.edu	37	1	110716657	110716657	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:110716657C>G	ENST00000331565.4	+	4	992	c.507C>G	c.(505-507)ttC>ttG	p.F169L	RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	169					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCTATTTCTTCAAGTCCTTCC	0.577																																						uc009wfq.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(505-507)TTC>TTG		solute carrier family 6, member 17							174.0	167.0	170.0					1																	110716657		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110716657C>G		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.507C>G	1.37:g.110716657C>G	ENSP00000330199:p.Phe169Leu						p.F169L	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	4	968	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	169			Extracellular (Potential).		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.507C>G	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400320	0.62177	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.74737	-0.87	5.78	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	M	0.67569	2.06	0.58432	D	0.999994	P	0.41188	0.741	P	0.48089	0.566	T	0.62946	-0.6746	10	0.20046	T	0.44	.	9.9371	0.41559	0.0:0.7925:0.0:0.2075	.	169	Q9H1V8	S6A17_HUMAN	L	169	ENSP00000330199:F169L	ENSP00000330199:F169L	F	+	3	2	SLC6A17	110518180	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.977000	0.29475	0.909000	0.36697	0.655000	0.94253	TTC		0.577	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2		XM_371280		27	165	0	0	0	0.007291	0	27	165		
WNT2B	7482	broad.mit.edu	37	1	113058964	113058964	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:113058964C>T	ENST00000369684.4	+	3	1091	c.606C>T	c.(604-606)ttC>ttT	p.F202F	WNT2B_ENST00000256640.5_Silent_p.F110F|WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000369686.5_Silent_p.F183F|RP4-671G15.2_ENST00000608357.1_RNA	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	202					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAAGGCCTTCGTGGATGCCA	0.557																																						uc001ecb.2		NaN																	0				ovary(2)|breast(2)|skin(1)	5						c.(604-606)TTC>TTT		wingless-type MMTV integration site family,							144.0	128.0	133.0					1																	113058964		2203	4300	6503	SO:0001819	synonymous_variant	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113058964C>T	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.606C>T	1.37:g.113058964C>T						WNT2B_uc001eca.2_Silent_p.F183F|WNT2B_uc009wgg.2_Silent_p.F110F	p.F202F	NM_024494	NP_078613	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	1121	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	202					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Silent	SNP	ENST00000369684.4	37	c.606C>T	CCDS847.1																																																																																				0.557	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1		NM_004185		13	108	0	0	0	0.00245	0	13	108		
SLC16A1	6566	broad.mit.edu	37	1	113464733	113464733	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:113464733C>T	ENST00000538576.1	-	3	1071	c.240G>A	c.(238-240)gtG>gtA	p.V80V	SLC16A1_ENST00000433570.4_Silent_p.V80V|SLC16A1_ENST00000369626.3_Silent_p.V80V	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	80					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	CATATTTATTCACCAGGATAC	0.403																																						uc001ecx.2		NaN																	0				central_nervous_system(1)	1						c.(238-240)GTG>GTA		solute carrier family 16, member 1	Pyruvic acid(DB00119)						111.0	94.0	100.0					1																	113464733		2203	4300	6503	SO:0001819	synonymous_variant	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113464733C>T	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.240G>A	1.37:g.113464733C>T						SLC16A1_uc001ecy.2_Silent_p.V80V|SLC16A1_uc001ecz.2_Silent_p.V80V|AFARP1_uc001eda.1_5'Flank	p.V80V	NM_003051	NP_003042	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	3	1072	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	80			Helical; (Potential).		Q49A45|Q5T8R6|Q9NSJ9	Silent	SNP	ENST00000538576.1	37	c.240G>A	CCDS858.1																																																																																				0.403	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1		NM_003051		5	49	0	0	0	0.000602	0	5	49		
MAGI3	260425	broad.mit.edu	37	1	114133225	114133225	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:114133225C>G	ENST00000307546.9	+	5	958	c.883C>G	c.(883-885)Ctg>Gtg	p.L295V	MAGI3_ENST00000369617.4_Missense_Mutation_p.L295V|MAGI3_ENST00000369611.4_Missense_Mutation_p.L295V|MAGI3_ENST00000369615.1_Missense_Mutation_p.L295V	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	295	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTGGAACCACTGCCCAAAAA	0.408																																						uc001edk.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(883-885)CTG>GTG		membrane-associated guanylate kinase-related  3							115.0	108.0	110.0					1																	114133225		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114133225C>G	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.883C>G	1.37:g.114133225C>G	ENSP00000304604:p.Leu295Val					MAGI3_uc001edh.3_Missense_Mutation_p.L295V|MAGI3_uc001edi.3_Missense_Mutation_p.L295V|MAGI3_uc010owm.1_Missense_Mutation_p.L295V|MAGI3_uc001edj.2_Missense_Mutation_p.L16V	p.L295V	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1064	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	295			WW 1.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.883C>G	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894588	0.33442	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.9	0.254	0.15557	.	0.000000	0.85682	D	0.000000	D	0.93271	0.7856	H	0.95712	3.71	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.957;1.0	D;P;D	0.91635	0.999;0.708;0.999	D	0.93539	0.6876	10	0.87932	D	0	-24.3838	11.6516	0.51292	0.0:0.6611:0.0:0.3389	.	295;295;295	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	V	295	ENSP00000358630:L295V;ENSP00000304604:L295V;ENSP00000358628:L295V;ENSP00000358624:L295V	ENSP00000304604:L295V	L	+	1	2	MAGI3	113934748	0.915000	0.31059	0.990000	0.47175	0.024000	0.10985	1.878000	0.39608	0.124000	0.18369	-0.140000	0.14226	CTG		0.408	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1		NM_152900		4	40	0	0	0	0.009096	0	4	40		
HIPK1	204851	broad.mit.edu	37	1	114515811	114515811	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:114515811C>T	ENST00000369558.1	+	16	3542	c.3310C>T	c.(3310-3312)Cac>Tac	p.H1104Y	HIPK1_ENST00000426820.2_Missense_Mutation_p.H1104Y|HIPK1_ENST00000369554.2_Missense_Mutation_p.H1059Y|HIPK1_ENST00000340480.4_Missense_Mutation_p.H730Y|HIPK1_ENST00000369553.1_Missense_Mutation_p.H710Y|HIPK1_ENST00000406344.1_Missense_Mutation_p.H710Y|HIPK1_ENST00000369561.4_Missense_Mutation_p.H1070Y|HIPK1_ENST00000369555.2_Missense_Mutation_p.H1059Y			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1104					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCCCCTGCTCACCTGCCAAG	0.627																																						uc001eem.2		NaN																	0				ovary(4)	4						c.(3310-3312)CAC>TAC		homeodomain-interacting protein kinase 1 isoform							125.0	120.0	122.0					1																	114515811		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114515811C>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3310C>T	1.37:g.114515811C>T	ENSP00000358571:p.His1104Tyr					HIPK1_uc001een.2_Missense_Mutation_p.H1104Y|HIPK1_uc001eeo.2_Missense_Mutation_p.H730Y|HIPK1_uc001eep.2_Missense_Mutation_p.H710Y|HIPK1_uc001eeq.2_Missense_Mutation_p.H396Y	p.H1104Y	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	3471	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	1104					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.3310C>T	CCDS867.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.501209|4.501209	0.85176|0.85176	.|.	.|.	ENSG00000163349|ENSG00000163349	ENST00000426820;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344|ENST00000361587	T;T;T;T;T;T;T;T;T|.	0.55234|.	0.53;0.58;0.56;0.56;0.58;0.55;3.6;2.69;2.69|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66665|0.66665	0.2812|0.2812	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.99;0.963|.	D;D;P|.	0.75484|.	0.986;0.942;0.61|.	T|T	0.62431|0.62431	-0.6856|-0.6856	10|5	0.52906|.	T|.	0.07|.	.|.	19.0872|19.0872	0.93209|0.93209	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	396;710;1104|.	E9PCF6;Q86Z02-4;Q86Z02|.	.;.;HIPK1_HUMAN|.	Y|L	1175;1104;1059;1059;1104;1070;730;710;710|384	ENSP00000407442:H1175Y;ENSP00000409673:H1104Y;ENSP00000358567:H1059Y;ENSP00000358568:H1059Y;ENSP00000358571:H1104Y;ENSP00000358574:H1070Y;ENSP00000340956:H730Y;ENSP00000358566:H710Y;ENSP00000384960:H710Y|.	ENSP00000340956:H730Y|.	H|S	+|+	1|2	0|0	HIPK1|HIPK1	114317334|114317334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.409000|4.409000	0.59768|0.59768	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.627	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1		NM_198268		43	367	0	0	0	0.00361	0	43	367		
SIKE1	80143	broad.mit.edu	37	1	115319033	115319033	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:115319033C>T	ENST00000060969.5	-	4	525	c.456G>A	c.(454-456)atG>atA	p.M152I	SIKE1_ENST00000506320.1_5'UTR|SIKE1_ENST00000369528.5_Missense_Mutation_p.M156I			Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	152					innate immune response (GO:0045087)	cytosol (GO:0005829)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						CTGCTTTCCTCATCACTTCTC	0.363																																						uc001efo.3		NaN																	0					0						c.(454-456)ATG>ATA		suppressor of IKK epsilon isoform 2							207.0	199.0	202.0					1																	115319033		2203	4300	6503	SO:0001583	missense	80143					cytosol	protein binding	g.chr1:115319033C>T	AK024821	CCDS878.1, CCDS41371.1	1p13.1	2009-08-13			ENSG00000052723	ENSG00000052723			26119	protein-coding gene	gene with protein product	"""suppressor of IKK epsilon"""	611656				16281057	Standard	NM_025073		Approved	FLJ21168, SIKE	uc001efp.4	Q9BRV8	OTTHUMG00000012061	ENST00000060969.5:c.456G>A	1.37:g.115319033C>T	ENSP00000060969:p.Met152Ile					SIKE1_uc001efp.3_Missense_Mutation_p.M156I	p.M152I	NM_025073	NP_079349	Q9BRV8	SIKE1_HUMAN			4	536	-			152					Q5TEZ7|Q5TEZ9|Q68DZ4|Q9H778	Missense_Mutation	SNP	ENST00000060969.5	37	c.456G>A	CCDS878.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435962	0.96168	.	.	ENSG00000052723	ENST00000369528;ENST00000060969	T;T	0.65732	-0.17;-0.17	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	M	0.71581	2.175	0.80722	D	1	D;D	0.58268	0.982;0.963	D;D	0.69824	0.961;0.966	T	0.71718	-0.4508	10	0.44086	T	0.13	-16.6811	20.4702	0.99162	0.0:1.0:0.0:0.0	.	156;152	Q9BRV8-2;Q9BRV8	.;SIKE1_HUMAN	I	156;152	ENSP00000358541:M156I;ENSP00000060969:M152I	ENSP00000060969:M152I	M	-	3	0	SIKE1	115120556	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.228000	0.78079	2.937000	0.99478	0.650000	0.86243	ATG		0.363	SIKE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033401.1		NM_025073		8	156	0	0	0	0.006214	0	8	156		
SIKE1	80143	broad.mit.edu	37	1	115319072	115319072	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:115319072C>G	ENST00000060969.5	-	4	486	c.417G>C	c.(415-417)gaG>gaC	p.E139D	SIKE1_ENST00000506320.1_5'UTR|SIKE1_ENST00000369528.5_Missense_Mutation_p.E143D			Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	139					innate immune response (GO:0045087)	cytosol (GO:0005829)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						CAATCTGACTCTCAATTTCCT	0.358																																						uc001efo.3		NaN																	0					0						c.(415-417)GAG>GAC		suppressor of IKK epsilon isoform 2							140.0	136.0	138.0					1																	115319072		2203	4300	6503	SO:0001583	missense	80143					cytosol	protein binding	g.chr1:115319072C>G	AK024821	CCDS878.1, CCDS41371.1	1p13.1	2009-08-13			ENSG00000052723	ENSG00000052723			26119	protein-coding gene	gene with protein product	"""suppressor of IKK epsilon"""	611656				16281057	Standard	NM_025073		Approved	FLJ21168, SIKE	uc001efp.4	Q9BRV8	OTTHUMG00000012061	ENST00000060969.5:c.417G>C	1.37:g.115319072C>G	ENSP00000060969:p.Glu139Asp					SIKE1_uc001efp.3_Missense_Mutation_p.E143D	p.E139D	NM_025073	NP_079349	Q9BRV8	SIKE1_HUMAN			4	497	-			139					Q5TEZ7|Q5TEZ9|Q68DZ4|Q9H778	Missense_Mutation	SNP	ENST00000060969.5	37	c.417G>C	CCDS878.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.590151	0.66105	.	.	ENSG00000052723	ENST00000369528;ENST00000060969	T;T	0.67171	-0.25;-0.25	6.16	-0.554	0.11811	.	0.045170	0.85682	D	0.000000	T	0.35068	0.0919	N	0.25647	0.755	0.36456	D	0.86638	P;P	0.46142	0.873;0.77	B;B	0.42738	0.359;0.396	T	0.16012	-1.0417	10	0.36615	T	0.2	-17.7134	10.8435	0.46730	0.0:0.3396:0.0:0.6604	.	143;139	Q9BRV8-2;Q9BRV8	.;SIKE1_HUMAN	D	143;139	ENSP00000358541:E143D;ENSP00000060969:E139D	ENSP00000060969:E139D	E	-	3	2	SIKE1	115120595	0.992000	0.36948	0.996000	0.52242	0.988000	0.76386	0.308000	0.19314	-0.000000	0.14550	0.650000	0.86243	GAG		0.358	SIKE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033401.1		NM_025073		6	101	0	0	0	0.00308	0	6	101		
ADAM30	11085	broad.mit.edu	37	1	120438390	120438390	+	Silent	SNP	C	C	T	rs587606101		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:120438390C>T	ENST00000369400.1	-	1	728	c.570G>A	c.(568-570)gcG>gcA	p.A190A		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	190					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCCTTAGCCTCGCCTTATTCT	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19134	0.0		0.0	False		,,,				2504	0.0					uc001eij.2		NaN																	0				ovary(2)|lung(1)	3						c.(568-570)GCG>GCA		ADAM metallopeptidase domain 30 preproprotein							92.0	91.0	91.0					1																	120438390		2203	4300	6503	SO:0001819	synonymous_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438390C>T	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.570G>A	1.37:g.120438390C>T							p.A190A	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	724	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	190					A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	37	c.570G>A	CCDS907.1																																																																																				0.408	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1		NM_021794		5	74	0	0	0	0.001168	0	5	74		
NBPF10	100132406	broad.mit.edu	37	1	145311808	145311808	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:145311808G>A	ENST00000369338.1	+	10	1247	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	NBPF10_ENST00000342960.5_Intron|NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	626						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGCTGGATGAGAAAGGGCC	0.483																																						uc001end.3		NaN																	0					0						c.(1876-1878)GAG>AAG		hypothetical protein LOC100132406							6.0	4.0	5.0					1																	145311808		377	1307	1684	SO:0001583	missense	100132406							g.chr1:145311808G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.1057G>A	1.37:g.145311808G>A	ENSP00000358344:p.Glu353Lys					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_5'UTR|NBPF10_uc010oyl.1_5'UTR|NBPF10_uc010oyj.1_5'UTR	p.E626K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	14	1911	+	all_hematologic(923;0.032)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	.	0.452	-0.893183	0.02491	.	.	ENSG00000163386	ENST00000369338;ENST00000369364	T	0.06933	3.24	0.711	0.711	0.18162	.	.	.	.	.	T	0.00784	0.0026	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.46925	-0.9156	6	0.07175	T	0.84	.	4.8654	0.13606	0.0:0.0:1.0:0.0	.	.	.	.	K	353;30	ENSP00000358344:E353K	ENSP00000358344:E353K	E	+	1	0	NBPF10	144023165	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.136000	0.15974	0.696000	0.31696	0.064000	0.15345	GAG		0.483	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1		NM_001039703		4	33	0	0	0	0.000602	0	4	33		
PEX11B	8799	broad.mit.edu	37	1	145522591	145522591	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:145522591C>T	ENST00000369306.3	+	4	601	c.452C>T	c.(451-453)tCt>tTt	p.S151F	PEX11B_ENST00000537888.1_Missense_Mutation_p.S137F|ITGA10_ENST00000539363.1_5'Flank|ITGA10_ENST00000538811.1_5'Flank|ITGA10_ENST00000369304.3_5'Flank	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	151					peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAAGAGTCTTCTGCTTGTAGC	0.527																																						uc001eny.1		NaN																	0					0						c.(451-453)TCT>TTT		peroxisomal biogenesis factor 11 beta							121.0	114.0	116.0					1																	145522591		2203	4300	6503	SO:0001583	missense	8799				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding	g.chr1:145522591C>T	AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"""peroxisomal biogenesis factor 11B"""			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.452C>T	1.37:g.145522591C>T	ENSP00000358312:p.Ser151Phe					NBPF10_uc001emp.3_Intron|PEX11B_uc010oyu.1_Missense_Mutation_p.S137F|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.2_5'Flank|ITGA10_uc010oyv.1_5'Flank|ITGA10_uc009wiw.2_5'Flank	p.S151F	NM_003846	NP_003837	O96011	PX11B_HUMAN			4	470	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		151					B3KN85|B4DXH9|Q96ET2	Missense_Mutation	SNP	ENST00000369306.3	37	c.452C>T	CCDS917.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365709	0.24684	.	.	ENSG00000131779	ENST00000369306;ENST00000537888	T;T	0.48201	0.82;0.82	5.23	4.33	0.51752	.	0.211578	0.39985	N	0.001214	T	0.24084	0.0583	L	0.29908	0.895	0.39135	D	0.961928	B;B	0.30104	0.268;0.268	B;B	0.35182	0.197;0.197	T	0.15838	-1.0423	10	0.52906	T	0.07	-2.1866	11.5902	0.50941	0.0:0.9141:0.0:0.0859	.	137;151	B4DXH9;O96011	.;PX11B_HUMAN	F	151;137	ENSP00000358312:S151F;ENSP00000437510:S137F	ENSP00000358312:S151F	S	+	2	0	PEX11B	144233948	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.343000	0.44001	1.437000	0.47472	0.591000	0.81541	TCT		0.527	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038549.1		NM_003846		13	88	0	0	0	0.00245	0	13	88		
RNF115	27246	broad.mit.edu	37	1	145682086	145682086	+	Silent	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:145682086T>C	ENST00000369291.5	+	5	696	c.492T>C	c.(490-492)ccT>ccC	p.P164P		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CTCCACACCCTTTTTCCTGGT	0.363																																						uc001eoj.2		NaN																	0				ovary(1)	1						c.(490-492)CCT>CCC		Rabring 7							197.0	190.0	193.0					1																	145682086		2203	4300	6503	SO:0001819	synonymous_variant	27246				protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:145682086T>C	AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.492T>C	1.37:g.145682086T>C						NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Silent_p.P131P|RNF115_uc009wiy.2_Silent_p.P83P	p.P164P	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN			5	696	+			164						Silent	SNP	ENST00000369291.5	37	c.492T>C	CCDS922.1																																																																																				0.363	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2		NM_014455		3	130	0	0	0	0.000602	0	3	130		
RNF115	27246	broad.mit.edu	37	1	145687020	145687020	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:145687020G>A	ENST00000369291.5	+	8	916	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						TTACACAGTTGAAGAGGAAGT	0.413																																						uc001eoj.2		NaN																	0				ovary(1)	1						c.(712-714)GAA>AAA		Rabring 7							192.0	164.0	173.0					1																	145687020		2203	4300	6503	SO:0001583	missense	27246				protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:145687020G>A	AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.712G>A	1.37:g.145687020G>A	ENSP00000358297:p.Glu238Lys					NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Missense_Mutation_p.E205K|RNF115_uc009wiy.2_Missense_Mutation_p.E157K	p.E238K	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN			8	916	+			238			RING-type.			Missense_Mutation	SNP	ENST00000369291.5	37	c.712G>A	CCDS922.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268045	0.59540	.	.	ENSG00000121848	ENST00000369291	T	0.68479	-0.33	5.18	2.14	0.27477	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.231515	0.43579	N	0.000557	T	0.34571	0.0902	L	0.31065	0.9	0.34450	D	0.700586	B	0.22146	0.065	B	0.24701	0.055	T	0.18650	-1.0330	10	0.56958	D	0.05	-0.3611	8.3966	0.32561	0.2839:0.0:0.7161:0.0	.	238	Q9Y4L5	RN115_HUMAN	K	238	ENSP00000358297:E238K	ENSP00000358297:E238K	E	+	1	0	RNF115	144398377	0.915000	0.31059	0.893000	0.35052	0.977000	0.68977	3.694000	0.54742	0.713000	0.32060	-0.229000	0.12294	GAA		0.413	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2		NM_014455		13	130	0	0	0	0.00499	0	13	130		
RNF115	27246	broad.mit.edu	37	1	145687023	145687023	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:145687023G>A	ENST00000369291.5	+	8	919	c.715G>A	c.(715-717)Gag>Aag	p.E239K		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CACAGTTGAAGAGGAAGTCCG	0.428																																						uc001eoj.2		NaN																	0				ovary(1)	1						c.(715-717)GAG>AAG		Rabring 7							195.0	166.0	176.0					1																	145687023		2203	4300	6503	SO:0001583	missense	27246				protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:145687023G>A	AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.715G>A	1.37:g.145687023G>A	ENSP00000358297:p.Glu239Lys					NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Missense_Mutation_p.E206K|RNF115_uc009wiy.2_Missense_Mutation_p.E158K	p.E239K	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN			8	919	+			239			RING-type.			Missense_Mutation	SNP	ENST00000369291.5	37	c.715G>A	CCDS922.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202196	0.94997	.	.	ENSG00000121848	ENST00000369291	T	0.49432	0.78	5.27	4.37	0.52481	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.52468	0.1736	L	0.60012	1.86	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.55579	-0.8119	10	0.48119	T	0.1	-15.9799	11.6425	0.51242	0.0852:0.0:0.9148:0.0	.	239	Q9Y4L5	RN115_HUMAN	K	239	ENSP00000358297:E239K	ENSP00000358297:E239K	E	+	1	0	RNF115	144398380	1.000000	0.71417	0.979000	0.43373	0.977000	0.68977	9.304000	0.96190	1.469000	0.48083	0.655000	0.94253	GAG		0.428	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2		NM_014455		12	133	0	0	0	0.004007	0	12	133		
GPR89B	51463	broad.mit.edu	37	1	147400652	147400652	+	Start_Codon_SNP	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:147400652G>C	ENST00000314163.7	+	1	147	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_016334.3	NP_057418.1	P0CG08	GPHRB_HUMAN	G protein-coupled receptor 89B	1					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	voltage-gated ion channel activity (GO:0005244)			large_intestine(1)	1	all_hematologic(923;0.0276)					ACTTCGCCATGAGTTTCCTGA	0.647																																						uc001epv.3		NaN																	0					0						c.(1-3)ATG>ATC		G protein-coupled receptor 89B							94.0	95.0	94.0					1																	147400652		2203	4300	6503	SO:0001582	initiator_codon_variant	51463				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity	g.chr1:147400652G>C	U78723	CCDS930.1	1q21.1	2014-06-19	2007-06-06	2007-06-06	ENSG00000188092	ENSG00000188092			13840	protein-coding gene	gene with protein product		612806	"""G protein-coupled receptor 89"", ""G protein-coupled receptor 89C"""	GPR89, GPR89C		11042152	Standard	NM_016334		Approved	SH120	uc001epv.4	P0CG08	OTTHUMG00000013452	ENST00000314163.7:c.3G>C	1.37:g.147400652G>C	ENSP00000358233:p.Met1Ile					GPR89B_uc010ozs.1_Missense_Mutation_p.M1I|GPR89B_uc010ozt.1_5'UTR|GPR89B_uc010ozu.1_5'UTR|GPR89B_uc001epw.3_5'UTR|GPR89B_uc010ozv.1_5'Flank	p.M1I	NM_016334	NP_057418	B7ZAQ6	GPHRA_HUMAN			1	147	+	all_hematologic(923;0.0276)		1					A6NN37|B2RUV3|B3KMN3|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Missense_Mutation	SNP	ENST00000314163.7	37	c.3G>C	CCDS930.1	.	.	.	.	.	.	.	.	.	.	g	17.33	3.362631	0.61403	.	.	ENSG00000188092	ENST00000314163	.	.	.	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.51109	0.1655	.	.	.	0.45295	D	0.998298	P	0.44344	0.833	P	0.48141	0.568	T	0.58645	-0.7600	8	0.62326	D	0.03	-24.4279	12.6707	0.56866	0.0:0.0:1.0:0.0	.	1	B4DT03	.	I	1	.	ENSP00000358233:M1I	M	+	3	0	GPR89B	145867276	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	4.523000	0.60545	2.119000	0.64992	0.557000	0.71058	ATG		0.647	GPR89B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037481.2		NM_016334	Missense_Mutation	11	121	0	0	0	0.001368	0	11	121		
NBPF14	25832	broad.mit.edu	37	1	148009410	148009410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:148009410G>A	ENST00000369219.1	-	16	1913	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	633	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CTGTAGGGCTGGCATGAGTCA	0.478																																						uc001eqq.2		NaN																	0				ovary(1)	1						c.(1897-1899)CAG>TAG		hypothetical protein LOC25832							101.0	204.0	174.0					1																	148009410		1651	4051	5702	SO:0001587	stop_gained	25832					cytoplasm		g.chr1:148009410G>A	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1897C>T	1.37:g.148009410G>A	ENSP00000358221:p.Gln633*					LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Nonsense_Mutation_p.Q206*|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pad.1_Intron|NBPF14_uc001eqs.1_Intron	p.Q633*	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN			16	1914	-	all_hematologic(923;0.032)		633			NBPF 7.		Q5TI23|Q8IX76|Q9UJI9	Nonsense_Mutation	SNP	ENST00000369219.1	37	c.1897C>T		.	.	.	.	.	.	.	.	.	.	g	14.20	2.463090	0.43736	.	.	ENSG00000122497	ENST00000369219;ENST00000434489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	.	.	.	.	.	.	.	X	633;223	.	ENSP00000358221:Q633X	Q	-	1	0	NBPF14	146476034	0.980000	0.34600	.	.	.	.	0.748000	0.26305	.	.	.	.	CAG		0.478	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_015383		8	393	0	0	0	0.001368	0	8	393		
HIST2H2AC	8338	broad.mit.edu	37	1	149858710	149858710	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:149858710G>T	ENST00000331380.2	+	1	186	c.186G>T	c.(184-186)gaG>gaT	p.E62D	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	62						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGACCGCCGAGATCCTGGAGC	0.672																																						uc001etd.2		NaN																	0				ovary(1)|skin(1)	2						c.(184-186)GAG>GAT		histone cluster 2, H2ac							44.0	48.0	47.0					1																	149858710		2203	4300	6503	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858710G>T	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.186G>T	1.37:g.149858710G>T	ENSP00000332194:p.Glu62Asp					HIST2H2BE_uc001etc.2_5'Flank	p.E62D	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	186	+	Breast(34;0.0124)|all_hematologic(923;0.127)		62					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.186G>T	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895531	0.33442	.	.	ENSG00000184260	ENST00000331380	T	0.70749	-0.51	5.81	-5.92	0.02261	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.44902	D	0.000412	T	0.80259	0.4590	H	0.97783	4.075	0.31867	N	0.620166	D	0.71674	0.998	D	0.83275	0.996	T	0.73646	-0.3917	10	0.87932	D	0	.	5.9222	0.19088	0.4246:0.0:0.3854:0.19	.	62	Q16777	H2A2C_HUMAN	D	62	ENSP00000332194:E62D	ENSP00000332194:E62D	E	+	3	2	HIST2H2AC	148125334	0.988000	0.35896	0.099000	0.21106	0.198000	0.23893	0.181000	0.16880	-1.190000	0.02698	-0.302000	0.09304	GAG		0.672	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1		NM_003517		13	107	1	0	1.15088e-07	0.004007	1.20577e-07	13	107		
OTUD7B	56957	broad.mit.edu	37	1	149921589	149921589	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:149921589G>C	ENST00000369135.4	-	9	1360	c.1066C>G	c.(1066-1068)Cag>Gag	p.Q356E		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	356	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			AAGTGGGCCTGATCATAGGCG	0.512																																						uc001etn.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(1066-1068)CAG>GAG		zinc finger protein Cezanne							83.0	84.0	84.0					1																	149921589		1988	4181	6169	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149921589G>C	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1066C>G	1.37:g.149921589G>C	ENSP00000358131:p.Gln356Glu						p.Q356E	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		9	1422	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		356			Catalytic.|OTU.|TRAF-binding.		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.1066C>G	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558756	0.86231	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.28666	1.6;1.6	5.05	5.05	0.67936	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.64997	1.995	0.80722	D	1	D	0.57899	0.981	D	0.67548	0.952	T	0.18777	-1.0326	9	.	.	.	-15.2618	17.5711	0.87934	0.0:0.0:1.0:0.0	.	356	Q6GQQ9	OTU7B_HUMAN	E	356	ENSP00000358131:Q356E;ENSP00000408231:Q356E	.	Q	-	1	0	OTUD7B	148188213	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.263000	0.95617	2.633000	0.89246	0.591000	0.81541	CAG		0.512	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3		NM_020205		7	91	0	0	0	0.004482	0	7	91		
OTUD7B	56957	broad.mit.edu	37	1	149921612	149921612	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:149921612G>T	ENST00000369135.4	-	9	1337	c.1043C>A	c.(1042-1044)tCc>tAc	p.S348Y		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	348	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CACCAGAGGGGAGCGGTGACA	0.512																																						uc001etn.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(1042-1044)TCC>TAC		zinc finger protein Cezanne							70.0	73.0	72.0					1																	149921612		1994	4167	6161	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149921612G>T	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1043C>A	1.37:g.149921612G>T	ENSP00000358131:p.Ser348Tyr						p.S348Y	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		9	1399	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		348			Catalytic.|OTU.|TRAF-binding.		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.1043C>A	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130844	0.77549	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.29397	1.57;1.57	5.05	5.05	0.67936	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04537	-1.0944	9	.	.	.	.	17.5711	0.87934	0.0:0.0:1.0:0.0	.	348	Q6GQQ9	OTU7B_HUMAN	Y	348	ENSP00000358131:S348Y;ENSP00000408231:S348Y	.	S	-	2	0	OTUD7B	148188236	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	2.633000	0.89246	0.591000	0.81541	TCC		0.512	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3		NM_020205		6	71	1	0	4.096e-09	0.001168	4.32634e-09	6	71		
ECM1	1893	broad.mit.edu	37	1	150483939	150483939	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:150483939G>A	ENST00000369047.4	+	7	840	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	ECM1_ENST00000346569.6_Intron|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.E266K	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	239	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTAGTGGGAGGAAGCAATGAG	0.597																																					Melanoma(156;1696 2560 11093 19685)	uc001eus.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(715-717)GAA>AAA		extracellular matrix protein 1 isoform 1							106.0	104.0	105.0					1																	150483939		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150483939G>A	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.715G>A	1.37:g.150483939G>A	ENSP00000358043:p.Glu239Lys					ECM1_uc010pce.1_3'UTR|ECM1_uc010pcf.1_3'UTR|ECM1_uc001eut.2_Intron|ECM1_uc001euu.2_Missense_Mutation_p.E268K|ECM1_uc001euv.2_Missense_Mutation_p.E266K|ECM1_uc009wlu.2_5'UTR	p.E239K	NM_004425	NP_004416	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		7	914	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		239			2 X approximate repeats.|1.		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.715G>A	CCDS953.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712786	0.30413	.	.	ENSG00000143369	ENST00000369049;ENST00000369047	T;T	0.76839	-1.05;-1.05	4.29	1.25	0.21368	.	0.624292	0.16842	N	0.197309	T	0.35038	0.0918	N	0.11560	0.145	0.58432	D	0.999993	B;B;B	0.23185	0.01;0.08;0.081	B;B;B	0.25506	0.003;0.042;0.061	T	0.10941	-1.0608	10	0.32370	T	0.25	-7.6172	3.5913	0.07990	0.2138:0.0:0.5897:0.1965	.	266;239;239	Q16610-4;C8CHS3;Q16610	.;.;ECM1_HUMAN	K	266;239	ENSP00000358045:E266K;ENSP00000358043:E239K	ENSP00000358043:E239K	E	+	1	0	ECM1	148750563	0.965000	0.33210	0.829000	0.32907	0.914000	0.54420	0.141000	0.16076	0.166000	0.19597	0.561000	0.74099	GAA		0.597	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2		NM_004425		23	219	0	0	0	0.005443	0	23	219		
BNIPL	149428	broad.mit.edu	37	1	151018574	151018574	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:151018574G>A	ENST00000368931.3	+	9	1126	c.970G>A	c.(970-972)Gac>Aac	p.D324N	C1orf56_ENST00000368926.5_5'Flank|BNIPL_ENST00000295294.7_Missense_Mutation_p.D242N|BNIPL_ENST00000491386.1_3'UTR	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	324	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCGTTTTCTGGACAGCCTGGG	0.443																																						uc001ewl.2		NaN																	0					0						c.(970-972)GAC>AAC		BCL2/adenovirus E1B 19kD interacting protein							59.0	61.0	60.0					1																	151018574		2203	4300	6503	SO:0001583	missense	149428				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	g.chr1:151018574G>A	AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.970G>A	1.37:g.151018574G>A	ENSP00000357927:p.Asp324Asn					BNIPL_uc009wmi.2_Missense_Mutation_p.D242N|BNIPL_uc009wmj.2_RNA|C1orf56_uc001ewn.2_5'Flank	p.D324N	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		9	1143	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		324			CRAL-TRIO.		Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	ENST00000368931.3	37	c.970G>A	CCDS978.2	.	.	.	.	.	.	.	.	.	.	G	6.868	0.529496	0.13127	.	.	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294	T;T;T	0.65178	-0.14;-0.14;-0.14	5.75	3.77	0.43336	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.396184	0.30142	N	0.010301	T	0.09905	0.0243	N	0.03050	-0.425	0.29434	N	0.859637	B	0.10296	0.003	B	0.13407	0.009	T	0.34030	-0.9845	10	0.02654	T	1	.	5.4719	0.16674	0.408:0.0:0.592:0.0	.	324	Q7Z465	BNIPL_HUMAN	N	324;322;242	ENSP00000357927:D324N;ENSP00000355333:D322N;ENSP00000295294:D242N	ENSP00000295294:D242N	D	+	1	0	BNIPL	149285198	0.577000	0.26708	1.000000	0.80357	0.990000	0.78478	-0.006000	0.12833	0.648000	0.30732	0.561000	0.74099	GAC		0.443	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1		NM_138279		8	61	0	0	0	0.010729	0	8	61		
S100A11	6282	broad.mit.edu	37	1	152006245	152006245	+	Missense_Mutation	SNP	C	C	T	rs368876001	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152006245C>T	ENST00000271638.2	-	2	154	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	S100A11_ENST00000478109.1_5'UTR|NBPF18P_ENST00000432386.1_RNA	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	12					negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCGATGCACCGCTCAGTCTC	0.458													.|||	16	0.00319489	0.0	0.0	5008	,	,		18439	0.0		0.0	False		,,,				2504	0.0164				Colon(152;1751 1834 12462 21158 46902)	uc001ezn.2		NaN																	0					0						c.(34-36)CGG>CAG		S100 calcium binding protein A11		C	GLN/ARG	0,4406		0,0,2203	83.0	82.0	82.0		35	5.0	1.0	1		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	S100A11	NM_005620.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/106	152006245	1,13005	2203	4300	6503	SO:0001583	missense	6282				negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding	g.chr1:152006245C>T	D38583	CCDS1009.1	1q21	2013-01-10	2006-09-11		ENSG00000163191	ENSG00000163191		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10488	protein-coding gene	gene with protein product		603114	"""S100 calcium-binding protein A11 (calgizzarin)"", ""S100 calcium binding protein A11 (calgizzarin)"""			8985590	Standard	NM_005620		Approved	S100C	uc001ezn.3	P31949	OTTHUMG00000013069	ENST00000271638.2:c.35G>A	1.37:g.152006245C>T	ENSP00000271638:p.Arg12Gln					uc001ezm.1_Intron	p.R12Q	NM_005620	NP_005611	P31949	S10AB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		2	155	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		12					Q5VTK0	Missense_Mutation	SNP	ENST00000271638.2	37	c.35G>A	CCDS1009.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831452	0.50845	0.0	1.16E-4	ENSG00000163191	ENST00000271638	T	0.09817	2.94	4.97	4.97	0.65823	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.000000	0.53938	D	0.000047	T	0.04588	0.0125	L	0.46741	1.465	0.42578	D	0.993202	B	0.09022	0.002	B	0.15484	0.013	T	0.21621	-1.0240	10	0.15066	T	0.55	.	14.0904	0.64987	0.0:1.0:0.0:0.0	.	12	P31949	S10AB_HUMAN	Q	12	ENSP00000271638:R12Q	ENSP00000271638:R12Q	R	-	2	0	S100A11	150272869	0.992000	0.36948	0.997000	0.53966	0.972000	0.66771	4.110000	0.57831	2.464000	0.83262	0.462000	0.41574	CGG		0.458	S100A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036676.1		NM_005620		8	90	0	0	0	0.004482	0	8	90		
HRNR	388697	broad.mit.edu	37	1	152193080	152193080	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152193080G>C	ENST00000368801.2	-	3	1100	c.1025C>G	c.(1024-1026)tCa>tGa	p.S342*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	342					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCTGGCCTGAGCCAGACTC	0.582																																						uc001ezt.1		NaN																	0				skin(2)|ovary(1)	3						c.(1024-1026)TCA>TGA		hornerin							85.0	93.0	91.0					1																	152193080		2203	4300	6503	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193080G>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1025C>G	1.37:g.152193080G>C	ENSP00000357791:p.Ser342*						p.S342*	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1101	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		342			3.		Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.1025C>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960881	0.74016	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.73	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	6.3978	0.21622	0.1026:0.0:0.7184:0.179	.	.	.	.	X	342	.	ENSP00000357791:S342X	S	-	2	0	HRNR	150459704	0.000000	0.05858	0.009000	0.14445	0.036000	0.12997	0.301000	0.19174	0.258000	0.21686	-0.189000	0.12847	TCA		0.582	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		5	97	0	0	0	0.00308	0	5	97		
FLG	2312	broad.mit.edu	37	1	152279068	152279068	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152279068G>C	ENST00000368799.1	-	3	8329	c.8294C>G	c.(8293-8295)tCc>tGc	p.S2765C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2765	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCATGGCGGGATCCTTGTCT	0.577									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8293-8295)TCC>TGC		filaggrin							186.0	253.0	230.0					1																	152279068		2197	4297	6494	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279068G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8294C>G	1.37:g.152279068G>C	ENSP00000357789:p.Ser2765Cys						p.S2765C	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8330	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2765			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8294C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.989	1.230308	0.22542	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.02197	4.4	4.43	1.35	0.21983	.	.	.	.	.	T	0.03651	0.0104	M	0.78916	2.43	0.09310	N	1	D	0.69078	0.997	P	0.61658	0.892	T	0.28713	-1.0035	9	0.72032	D	0.01	3.0059	7.5517	0.27802	0.0:0.1617:0.5046:0.3337	.	2765	P20930	FILA_HUMAN	C	2765;27	ENSP00000357789:S2765C	ENSP00000357786:S27C	S	-	2	0	FLG	150545692	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.094000	0.01351	0.167000	0.19631	0.461000	0.40582	TCC		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		24	512	0	0	0	0.011902	0	24	512		
FLG	2312	broad.mit.edu	37	1	152279987	152279987	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152279987G>C	ENST00000368799.1	-	3	7410	c.7375C>G	c.(7375-7377)Cag>Gag	p.Q2459E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2459	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGTCCTGACCCTCTTGG	0.587									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(7375-7377)CAG>GAG		filaggrin							355.0	327.0	336.0					1																	152279987		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279987G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7375C>G	1.37:g.152279987G>C	ENSP00000357789:p.Gln2459Glu						p.Q2459E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7411	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2459			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7375C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	2.189	-0.385800	0.04966	.	.	ENSG00000143631	ENST00000368799	T	0.00832	5.64	2.09	1.09	0.20402	.	.	.	.	.	T	0.00384	0.0012	M	0.73753	2.245	0.09310	N	1	B	0.24576	0.106	B	0.15484	0.013	T	0.50303	-0.8844	9	0.06365	T	0.9	.	6.3685	0.21468	0.0:0.3119:0.6881:0.0	.	2459	P20930	FILA_HUMAN	E	2459	ENSP00000357789:Q2459E	ENSP00000357789:Q2459E	Q	-	1	0	FLG	150546611	.	.	0.015000	0.15790	0.025000	0.11179	.	.	0.412000	0.25729	0.485000	0.47835	CAG		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		82	685	0	0	0	0.00361	0	82	685		
FLG2	388698	broad.mit.edu	37	1	152324509	152324509	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152324509C>T	ENST00000388718.5	-	3	5825	c.5753G>A	c.(5752-5754)aGa>aAa	p.R1918K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1918					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTTTGGTGTCTCTTGTGAAC	0.507																																						uc001ezw.3		NaN																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(5752-5754)AGA>AAA		filaggrin family member 2							369.0	332.0	344.0					1																	152324509		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324509C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5753G>A	1.37:g.152324509C>T	ENSP00000373370:p.Arg1918Lys					uc001ezv.2_Intron	p.R1918K	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5826	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1918					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5753G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610348	0.28712	.	.	ENSG00000143520	ENST00000388718	T	0.08546	3.08	3.41	1.42	0.22433	.	.	.	.	.	T	0.05547	0.0146	M	0.71036	2.16	0.09310	N	1	P	0.44690	0.841	P	0.57204	0.815	T	0.19321	-1.0309	9	0.05959	T	0.93	-1.0046	4.4515	0.11623	0.0:0.6335:0.2314:0.1351	.	1918	Q5D862	FILA2_HUMAN	K	1918	ENSP00000373370:R1918K	ENSP00000373370:R1918K	R	-	2	0	FLG2	150591133	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.171000	0.09883	0.421000	0.25980	0.549000	0.68633	AGA		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		17	199	0	0	0	0.006122	0	17	199		
FLG2	388698	broad.mit.edu	37	1	152325449	152325449	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152325449G>C	ENST00000388718.5	-	3	4885	c.4813C>G	c.(4813-4815)Caa>Gaa	p.Q1605E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1605					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCATGTTGAGATCCGGCT	0.512																																						uc001ezw.3		NaN																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4813-4815)CAA>GAA		filaggrin family member 2							356.0	309.0	325.0					1																	152325449		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325449G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4813C>G	1.37:g.152325449G>C	ENSP00000373370:p.Gln1605Glu					uc001ezv.2_Intron	p.Q1605E	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4886	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1605					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4813C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	7.439	0.640290	0.14386	.	.	ENSG00000143520	ENST00000388718	T	0.50813	0.73	3.74	1.62	0.23740	.	.	.	.	.	T	0.13200	0.0320	L	0.55481	1.735	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.37731	-0.9693	9	0.02654	T	1	1.4411	5.0643	0.14574	0.1239:0.0:0.6727:0.2034	.	1605	Q5D862	FILA2_HUMAN	E	1605	ENSP00000373370:Q1605E	ENSP00000373370:Q1605E	Q	-	1	0	FLG2	150592073	0.000000	0.05858	0.012000	0.15200	0.026000	0.11368	0.485000	0.22324	0.702000	0.31825	0.134000	0.15878	CAA		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		34	251	0	0	0	0.00623	0	34	251		
SPRR4	163778	broad.mit.edu	37	1	152944474	152944474	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152944474G>A	ENST00000328051.2	+	2	157	c.108G>A	c.(106-108)gaG>gaA	p.E36E		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	36	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATGTCAAGAGACATGTGCAC	0.592																																						uc001fav.1		NaN																	0					0						c.(106-108)GAG>GAA		small proline-rich protein 4							163.0	142.0	149.0					1																	152944474		2203	4300	6503	SO:0001819	synonymous_variant	163778				keratinization|peptide cross-linking	cell cortex		g.chr1:152944474G>A	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.108G>A	1.37:g.152944474G>A							p.E36E	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	171	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		36			Gln-rich.		Q2M1Y7|Q5T522	Silent	SNP	ENST00000328051.2	37	c.108G>A	CCDS1031.1																																																																																				0.592	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1		NM_173080		18	129	0	0	0	0.012319	0	18	129		
SPRR4	163778	broad.mit.edu	37	1	152944534	152944534	+	Silent	SNP	G	G	A	rs147360157	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152944534G>A	ENST00000328051.2	+	2	217	c.168G>A	c.(166-168)ccG>ccA	p.P56P		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	56	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)		p.P56P(1)		lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATGCCCACCGAAAGGCACCA	0.522													G|||	4	0.000798722	0.0	0.0029	5008	,	,		20845	0.0		0.0	False		,,,				2504	0.002					uc001fav.1		NaN																	1	Substitution - coding silent(1)		prostate(1)		0						c.(166-168)CCG>CCA		small proline-rich protein 4		G		0,4406		0,0,2203	182.0	149.0	160.0		168	-2.2	0.0	1	dbSNP_134	160	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SPRR4	NM_173080.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		56/80	152944534	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	163778				keratinization|peptide cross-linking	cell cortex		g.chr1:152944534G>A	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.168G>A	1.37:g.152944534G>A							p.P56P	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	231	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		56			Gln-rich.		Q2M1Y7|Q5T522	Silent	SNP	ENST00000328051.2	37	c.168G>A	CCDS1031.1																																																																																				0.522	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1		NM_173080		15	151	0	0	0	0.00499	0	15	151		
KCNN3	3782	broad.mit.edu	37	1	154842073	154842073	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:154842073G>A	ENST00000271915.4	-	1	683	c.368C>T	c.(367-369)tCc>tTc	p.S123F	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	128					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TTGCCTGGAGGAAGGGTGGAG	0.642																																						uc001ffp.2		NaN																	0				lung(1)	1						c.(367-369)TCC>TTC		small conductance calcium-activated potassium							53.0	45.0	48.0					1																	154842073		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154842073G>A	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.368C>T	1.37:g.154842073G>A	ENSP00000271915:p.Ser123Phe					KCNN3_uc009wox.1_Missense_Mutation_p.S123F	p.S123F	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	682	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		128					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.368C>T	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911240	0.72983	.	.	ENSG00000143603	ENST00000271915	D	0.95788	-3.81	5.22	5.22	0.72569	.	0.346348	0.21329	N	0.076335	D	0.93255	0.7851	N	0.14661	0.345	0.80722	D	1	D;D	0.71674	0.998;0.971	D;P	0.63488	0.915;0.691	D	0.93022	0.6441	10	0.35671	T	0.21	-27.6268	16.3168	0.82931	0.0:0.0:1.0:0.0	.	129;128	Q6JXY2;Q9UGI6	.;KCNN3_HUMAN	F	123	ENSP00000271915:S123F	ENSP00000271915:S123F	S	-	2	0	KCNN3	153108697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.635000	0.91006	2.717000	0.92951	0.563000	0.77884	TCC		0.642	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3		NM_002249		9	99	0	0	0	0.010729	0	9	99		
ZBTB7B	51043	broad.mit.edu	37	1	154987446	154987446	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:154987446G>C	ENST00000368426.3	+	3	447	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E138Q|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E104Q|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E104Q	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	104	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGCCCTCCTTGAATTTGCCTA	0.647																																						uc001fgk.3		NaN																	0					0						c.(310-312)GAA>CAA		zinc finger and BTB domain containing 7B							25.0	29.0	27.0					1																	154987446		2202	4300	6502	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987446G>C	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.310G>C	1.37:g.154987446G>C	ENSP00000357411:p.Glu104Gln					ZBTB7B_uc009wpa.2_Missense_Mutation_p.E104Q|ZBTB7B_uc001fgj.3_Missense_Mutation_p.E138Q|ZBTB7B_uc010peq.1_Missense_Mutation_p.E138Q|ZBTB7B_uc001fgl.3_Missense_Mutation_p.E104Q	p.E104Q	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	468	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		104			BTB.		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.310G>C	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113329	0.77210	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	3.66	3.66	0.41972	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.071587	0.53938	D	0.000048	T	0.72187	0.3429	L	0.46157	1.445	0.42758	D	0.993797	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70487	0.969;0.969;0.969	T	0.76358	-0.2988	10	0.72032	D	0.01	.	12.8864	0.58047	0.0:0.0:1.0:0.0	.	104;104;138	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	Q	104;104;138;104	ENSP00000438647:E104Q;ENSP00000357411:E104Q;ENSP00000406286:E138Q;ENSP00000292176:E104Q	ENSP00000292176:E104Q	E	+	1	0	ZBTB7B	153254070	1.000000	0.71417	0.996000	0.52242	0.882000	0.50991	9.560000	0.98139	1.867000	0.54127	0.455000	0.32223	GAA		0.647	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1		NM_015872		4	53	0	0	0	0.009096	0	4	53		
ZBTB7B	51043	broad.mit.edu	37	1	154988052	154988052	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:154988052G>C	ENST00000368426.3	+	3	1053	c.916G>C	c.(916-918)Gat>Cat	p.D306H	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D340H|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D306H|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D306H	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	306					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTGGGCTCAGATGAGGATGC	0.622																																						uc001fgk.3		NaN																	0					0						c.(916-918)GAT>CAT		zinc finger and BTB domain containing 7B							41.0	42.0	41.0					1																	154988052		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988052G>C	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.916G>C	1.37:g.154988052G>C	ENSP00000357411:p.Asp306His					ZBTB7B_uc009wpa.2_Missense_Mutation_p.D306H|ZBTB7B_uc001fgj.3_Missense_Mutation_p.D340H|ZBTB7B_uc010peq.1_Missense_Mutation_p.D340H|ZBTB7B_uc001fgl.3_Missense_Mutation_p.D306H	p.D306H	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	1074	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		306					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.916G>C	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	g	19.30	3.801122	0.70567	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.10763	2.86;2.86;2.84;2.86	4.08	4.08	0.47627	.	0.113248	0.34725	N	0.003732	T	0.11750	0.0286	L	0.27053	0.805	0.43798	D	0.996349	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.65987	0.94;0.94;0.94	T	0.05037	-1.0910	10	0.66056	D	0.02	.	13.8102	0.63260	0.0:0.0:1.0:0.0	.	306;306;340	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	H	306;306;340;306	ENSP00000438647:D306H;ENSP00000357411:D306H;ENSP00000406286:D340H;ENSP00000292176:D306H	ENSP00000292176:D306H	D	+	1	0	ZBTB7B	153254676	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.459000	0.66685	2.109000	0.64355	0.462000	0.41574	GAT		0.622	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1		NM_015872		7	85	0	0	0	0.004482	0	7	85		
RUSC1	23623	broad.mit.edu	37	1	155292224	155292224	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:155292224C>T	ENST00000368352.5	+	2	811	c.660C>T	c.(658-660)atC>atT	p.I220I	RUSC1_ENST00000368349.4_5'Flank|RUSC1_ENST00000292254.4_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368354.3_Silent_p.I220I|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	220					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			ATGGGAAAATCGACGCTGGGA	0.502																																						uc001fkj.2		NaN																	0				ovary(2)	2						c.(658-660)ATC>ATT		RUN and SH3 domain containing 1 isoform a							61.0	63.0	63.0					1																	155292224		1880	4100	5980	SO:0001819	synonymous_variant	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155292224C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.660C>T	1.37:g.155292224C>T						RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Silent_p.I220I|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	p.I220I	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	889	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		220					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	c.660C>T	CCDS41410.1																																																																																				0.502	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1				6	61	0	0	0	0.00308	0	6	61		
ASH1L	55870	broad.mit.edu	37	1	155450002	155450002	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:155450002G>C	ENST00000368346.3	-	3	3298	c.2659C>G	c.(2659-2661)Cca>Gca	p.P887A	ASH1L_ENST00000392403.3_Missense_Mutation_p.P887A			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	887					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTCTTTTTTGGAAAAGGAGAC	0.443																																						uc009wqq.2		NaN																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(2659-2661)CCA>GCA		absent, small, or homeotic 1-like							109.0	112.0	111.0					1																	155450002		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155450002G>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2659C>G	1.37:g.155450002G>C	ENSP00000357330:p.Pro887Ala					ASH1L_uc001fkt.2_Missense_Mutation_p.P887A|ASH1L_uc009wqr.1_Missense_Mutation_p.P887A	p.P887A	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3139	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		887			A.T hook 1.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.2659C>G		.	.	.	.	.	.	.	.	.	.	G	12.41	1.929394	0.34096	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89552	-2.53;-2.53	5.31	5.31	0.75309	AT hook, DNA-binding motif (1);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	N	0.08118	0	0.80722	D	1	B;P	0.35745	0.384;0.518	B;B	0.32533	0.07;0.147	T	0.75099	-0.3437	10	0.35671	T	0.21	.	18.7713	0.91893	0.0:0.0:1.0:0.0	.	887;887	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	A	887	ENSP00000357330:P887A;ENSP00000376204:P887A	ENSP00000357330:P887A	P	-	1	0	ASH1L	153716626	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.572000	0.60886	2.768000	0.95171	0.650000	0.86243	CCA		0.443	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489		6	69	0	0	0	0.006214	0	6	69		
ASH1L	55870	broad.mit.edu	37	1	155450149	155450149	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:155450149G>C	ENST00000368346.3	-	3	3151	c.2512C>G	c.(2512-2514)Caa>Gaa	p.Q838E	ASH1L_ENST00000392403.3_Missense_Mutation_p.Q838E			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	838					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTTCCAGTTGAGGCATCTCC	0.408																																						uc009wqq.2		NaN																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(2512-2514)CAA>GAA		absent, small, or homeotic 1-like							77.0	83.0	81.0					1																	155450149		2203	4299	6502	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155450149G>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2512C>G	1.37:g.155450149G>C	ENSP00000357330:p.Gln838Glu					ASH1L_uc001fkt.2_Missense_Mutation_p.Q838E|ASH1L_uc009wqr.1_Missense_Mutation_p.Q838E	p.Q838E	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	2992	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		838					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.2512C>G		.	.	.	.	.	.	.	.	.	.	G	9.981	1.228027	0.22542	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.87966	-2.32;-2.32	5.52	5.52	0.82312	.	0.229124	0.41097	D	0.000945	T	0.66416	0.2787	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.62946	-0.6746	10	0.38643	T	0.18	.	15.8774	0.79178	0.0:0.1356:0.8644:0.0	.	838;838	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	E	838	ENSP00000357330:Q838E;ENSP00000376204:Q838E	ENSP00000357330:Q838E	Q	-	1	0	ASH1L	153716773	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.097000	0.57741	2.878000	0.98634	0.650000	0.86243	CAA		0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489		4	49	0	0	0	0.000602	0	4	49		
YY1AP1	55249	broad.mit.edu	37	1	155631206	155631206	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:155631206C>T	ENST00000295566.4	-	10	1049	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K	YY1AP1_ENST00000404643.1_Silent_p.K276K|YY1AP1_ENST00000535662.1_Silent_p.K142K|YY1AP1_ENST00000368330.2_Silent_p.K296K|YY1AP1_ENST00000347088.5_Silent_p.K296K|YY1AP1_ENST00000368340.5_Silent_p.K414K|YY1AP1_ENST00000407221.1_Silent_p.K265K|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000359205.5_Silent_p.K285K|YY1AP1_ENST00000368339.5_Silent_p.K434K|YY1AP1_ENST00000361831.5_Silent_p.K285K|YY1AP1_ENST00000311573.5_Silent_p.K265K|YY1AP1_ENST00000405763.3_Silent_p.K434K|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000355499.4_Silent_p.K296K	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	342					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GTTTGGTCTTCTTATAAAACT	0.453																																						uc001fln.2		NaN																	0				ovary(2)|skin(1)	3						c.(1024-1026)AAG>AAA		YY1-associated protein isoform 2							71.0	72.0	72.0					1																	155631206		2203	4297	6500	SO:0001819	synonymous_variant	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155631206C>T	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1026G>A	1.37:g.155631206C>T						YY1AP1_uc001flg.2_Silent_p.K81K|YY1AP1_uc010pgg.1_Silent_p.K181K|YY1AP1_uc010pgh.1_Silent_p.K285K|YY1AP1_uc010pgi.1_Silent_p.K434K|YY1AP1_uc001flh.2_Silent_p.K414K|YY1AP1_uc009wqt.2_Silent_p.K265K|YY1AP1_uc001flk.2_Silent_p.K285K|YY1AP1_uc001fll.2_Silent_p.K296K|YY1AP1_uc009wqv.2_Silent_p.K13K|YY1AP1_uc001flm.2_Silent_p.K285K|YY1AP1_uc001fli.2_Silent_p.K296K|YY1AP1_uc009wqu.2_Silent_p.K129K|YY1AP1_uc001flj.2_Silent_p.K276K|YY1AP1_uc009wqw.2_Silent_p.K265K|YY1AP1_uc001flo.2_Silent_p.K230K|YY1AP1_uc001flp.2_Silent_p.K296K|YY1AP1_uc010pgj.1_Silent_p.K362K|YY1AP1_uc009wqx.2_Silent_p.K434K	p.K342K	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			10	1050	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		342					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Silent	SNP	ENST00000295566.4	37	c.1026G>A	CCDS1115.1																																																																																				0.453	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1		NM_139118		6	71	0	0	0	0.003163	0	6	71		
GON4L	54856	broad.mit.edu	37	1	155774800	155774800	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:155774800C>G	ENST00000368331.1	-	11	1633	c.1585G>C	c.(1585-1587)Gat>Cat	p.D529H	GON4L_ENST00000361040.5_Missense_Mutation_p.D529H|GON4L_ENST00000271883.5_Missense_Mutation_p.D529H|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.D529H	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	529	Asp-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCTCATCATCTGCCGTATTG	0.463																																						uc001flz.2		NaN																	0				ovary(3)	3						c.(1585-1587)GAT>CAT		gon-4-like isoform a							156.0	147.0	150.0					1																	155774800		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155774800C>G	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1585G>C	1.37:g.155774800C>G	ENSP00000357315:p.Asp529His					GON4L_uc001fly.1_Missense_Mutation_p.D529H|GON4L_uc009wrh.1_Missense_Mutation_p.D529H|GON4L_uc001fma.1_Missense_Mutation_p.D529H|GON4L_uc001fmc.2_Missense_Mutation_p.D529H|GON4L_uc001fmd.3_Missense_Mutation_p.D529H|GON4L_uc009wri.2_Missense_Mutation_p.D115H|GON4L_uc009wrj.1_Missense_Mutation_p.D44H|GON4L_uc001fme.2_Missense_Mutation_p.D357H|GON4L_uc001fmf.2_Missense_Mutation_p.D223H	p.D529H	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			11	1682	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		529			Asp-rich.		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.1585G>C		.	.	.	.	.	.	.	.	.	.	C	24.2	4.501712	0.85176	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.15487	2.6;2.6;2.6;2.42	4.93	4.93	0.64822	.	0.054353	0.64402	D	0.000001	T	0.35422	0.0931	M	0.69823	2.125	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.979;0.98;0.991;0.999;0.981;0.992	T	0.15549	-1.0433	10	0.87932	D	0	.	17.9264	0.88985	0.0:1.0:0.0:0.0	.	309;223;529;529;529;529	Q6PHZ4;Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;.;GON4L_HUMAN;.	H	529;529;529;529;529;8	ENSP00000396117:D529H;ENSP00000357315:D529H;ENSP00000271883:D529H;ENSP00000354322:D529H	ENSP00000271883:D529H	D	-	1	0	GON4L	154041424	1.000000	0.71417	0.946000	0.38457	0.926000	0.56050	5.677000	0.68142	2.567000	0.86603	0.467000	0.42956	GAT		0.463	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_032292		23	222	0	0	0	0.007291	0	23	222		
MEF2D	4209	broad.mit.edu	37	1	156438787	156438787	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156438787G>A	ENST00000348159.4	-	10	1512	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L	MEF2D_ENST00000368240.2_Silent_p.L337L|MEF2D_ENST00000353795.3_Silent_p.L298L|MEF2D_ENST00000360595.3_Silent_p.L337L|MEF2D_ENST00000464356.2_Silent_p.L336L|MEF2D_ENST00000340875.5_Silent_p.L343L	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	344					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTAAGGAGGAGAGCTCTGCAC	0.592																																						uc001fpc.2		NaN																	0				ovary(1)	1						c.(1030-1032)CTC>CTT		myocyte enhancer factor 2D							71.0	72.0	72.0					1																	156438787		2203	4300	6503	SO:0001819	synonymous_variant	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156438787G>A	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.1032C>T	1.37:g.156438787G>A						MEF2D_uc001fpb.2_Silent_p.L337L|MEF2D_uc001fpd.2_Silent_p.L337L|MEF2D_uc001fpe.1_Silent_p.L344L|MEF2D_uc009wsa.2_RNA	p.L344L	NM_005920	NP_005911	Q14814	MEF2D_HUMAN			10	1422	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		344					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Silent	SNP	ENST00000348159.4	37	c.1032C>T	CCDS1143.1																																																																																				0.592	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2		NM_005920		13	91	0	0	0	0.007413	0	13	91		
GPATCH4	54865	broad.mit.edu	37	1	156565223	156565223	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156565223C>T	ENST00000438976.2	-	8	940	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	GPATCH4_ENST00000368232.4_Missense_Mutation_p.E299K|GPATCH4_ENST00000497287.1_5'Flank			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	299							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTCCTCTTCATGGTGCCAC	0.542																																						uc001fpm.2		NaN																	0				ovary(1)	1						c.(910-912)GAA>AAA		G patch domain containing 4 isoform 1							243.0	236.0	238.0					1																	156565223		2203	4300	6503	SO:0001583	missense	54865					intracellular	nucleic acid binding	g.chr1:156565223C>T	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.910G>A	1.37:g.156565223C>T	ENSP00000396441:p.Glu304Lys					APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Missense_Mutation_p.E299K	p.E304K	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN			8	949	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		299					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	ENST00000438976.2	37	c.910G>A	CCDS44245.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963221	0.53507	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976	T;T	0.45276	0.9;0.9	4.84	2.93	0.34026	.	1.169690	0.06071	N	0.660188	T	0.19927	0.0479	M	0.68593	2.085	0.18873	N	0.999988	B;B	0.15141	0.012;0.012	B;B	0.09377	0.004;0.004	T	0.28933	-1.0028	10	0.22109	T	0.4	-11.6176	7.7963	0.29150	0.0:0.7272:0.1808:0.092	.	304;299	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	K	299;299;304	ENSP00000357215:E299K;ENSP00000396441:E304K	ENSP00000357212:E299K	E	-	1	0	GPATCH4	154831847	0.000000	0.05858	0.002000	0.10522	0.605000	0.37080	-1.289000	0.02780	0.691000	0.31592	0.557000	0.71058	GAA		0.542	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1		NM_017725		29	196	0	0	0	0.010818	0	29	196		
HAPLN2	60484	broad.mit.edu	37	1	156594397	156594397	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156594397G>A	ENST00000255039.1	+	6	968	c.561G>A	c.(559-561)tgG>tgA	p.W187*	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	187	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCCAGCTTGGACCGAGGGTC	0.716																																						uc001fpn.1		NaN																	0					0						c.(559-561)TGG>TGA		brain link protein-1 precursor							14.0	16.0	15.0					1																	156594397		2200	4294	6494	SO:0001587	stop_gained	60484				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr1:156594397G>A	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"""Immunoglobulin superfamily / V-set domain containing"""	17410	protein-coding gene	gene with protein product	"""brain link protein 1"""					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.561G>A	1.37:g.156594397G>A	ENSP00000255039:p.Trp187*						p.W187*	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN			6	968	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		187			Link 1.		Q5T3J0	Nonsense_Mutation	SNP	ENST00000255039.1	37	c.561G>A	CCDS1148.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102367	0.94245	.	.	ENSG00000132702	ENST00000255039;ENST00000544775	.	.	.	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2768	15.6141	0.76750	0.0:0.0:1.0:0.0	.	.	.	.	X	187;160	.	ENSP00000255039:W187X	W	+	3	0	HAPLN2	154861021	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	2.277000	0.43417	2.319000	0.78375	0.563000	0.77884	TGG		0.716	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1		NM_021817		6	77	0	0	0	0.006214	0	6	77		
NES	10763	broad.mit.edu	37	1	156642912	156642912	+	Silent	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156642912G>T	ENST00000368223.3	-	4	1200	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	356	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGTGAGGGGAGGGAAGTTG	0.602																																						uc001fpq.2		NaN																	0				ovary(6)	6						c.(1066-1068)CTC>CTA		nestin							38.0	48.0	45.0					1																	156642912		2203	4299	6502	SO:0001819	synonymous_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642912G>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1068C>A	1.37:g.156642912G>T							p.L356L	NM_006617	NP_006608	P48681	NEST_HUMAN			4	1201	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		356			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.1068C>A	CCDS1151.1																																																																																				0.602	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2		NM_006617		11	67	1	0	6.40141e-05	0.010729	6.60002e-05	11	67		
INSRR	3645	broad.mit.edu	37	1	156815422	156815422	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156815422G>A	ENST00000368195.3	-	10	2559	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	721					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGATGGTGATCGCGTTGT	0.642																																						uc010pht.1		NaN																	0				lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(2161-2163)ATC>ATT		insulin receptor-related receptor precursor							40.0	39.0	40.0					1																	156815422		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156815422G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2163C>T	1.37:g.156815422G>A						NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.I721I	NM_014215	NP_055030	P14616	INSRR_HUMAN			10	2417	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		721					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.2163C>T	CCDS1160.1																																																																																				0.642	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1		NM_014215		9	85	0	0	0	0.006214	0	9	85		
NTRK1	4914	broad.mit.edu	37	1	156830838	156830838	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156830838G>A	ENST00000524377.1	+	1	153	c.112G>A	c.(112-114)Gat>Aat	p.D38N	NTRK1_ENST00000358660.3_Missense_Mutation_p.D38N|NTRK1_ENST00000368196.3_Missense_Mutation_p.D38N|INSRR_ENST00000368195.3_5'Flank|NTRK1_ENST00000392302.2_Intron	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	38					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	ACCCTGCCCCGATGCCTGCTG	0.726			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1		NaN		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		0				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(112-114)GAT>AAT		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						5.0	6.0	5.0					1																	156830838		2067	4081	6148	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156830838G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.112G>A	1.37:g.156830838G>A	ENSP00000431418:p.Asp38Asn	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc010pht.1_5'Flank|INSRR_uc009wsj.1_5'Flank|NTRK1_uc001fqi.1_Missense_Mutation_p.D38N|NTRK1_uc009wsk.1_Missense_Mutation_p.D38N	p.D38N	NM_002529	NP_002520	P04629	NTRK1_HUMAN			1	168	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		38			Extracellular (Potential).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.112G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575061	0.45902	.	.	ENSG00000198400	ENST00000368196;ENST00000524377;ENST00000358660	T;T;T	0.75477	-0.91;-0.92;-0.94	5.38	3.37	0.38596	.	0.579306	0.15560	N	0.255954	T	0.40791	0.1131	.	.	.	0.19300	N	0.999975	B;B;B	0.23249	0.016;0.082;0.049	B;B;B	0.14023	0.004;0.01;0.005	T	0.25152	-1.0140	9	0.38643	T	0.18	.	8.1939	0.31385	0.0955:0.1739:0.7306:0.0	.	38;38;38	A8K3Z4;P04629-2;P04629	.;.;NTRK1_HUMAN	N	38	ENSP00000357179:D38N;ENSP00000431418:D38N;ENSP00000351486:D38N	ENSP00000351486:D38N	D	+	1	0	NTRK1	155097462	0.270000	0.24152	0.900000	0.35374	0.880000	0.50808	1.836000	0.39191	1.246000	0.43901	0.655000	0.94253	GAT		0.726	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1		NM_002529		7	22	0	0	0	0.004482	0	7	22		
SPTA1	6708	broad.mit.edu	37	1	158632519	158632519	+	Missense_Mutation	SNP	C	C	T	rs367886335		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:158632519C>T	ENST00000368147.4	-	17	2617	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	813					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)					GCTGAGGGTTCAGTCTCTTGG	0.512																																						uc001fst.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2437-2439)GAA>AAA		spectrin, alpha, erythrocytic 1		C	LYS/GLU	0,3892		0,0,1946	100.0	102.0	101.0		2437	3.4	0.2	1		101	1,8275		0,1,4137	no	missense	SPTA1	NM_003126.2	56	0,1,6083	TT,TC,CC		0.0121,0.0,0.0082	benign	813/2420	158632519	1,12167	1946	4138	6084	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.chr1:158632519C>T	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.2437G>A	1.37:g.158632519C>T	ENSP00000357129:p.Glu813Lys						p.E813K	NM_003126	NP_003117	P02549	SPTA1_HUMAN			17	2636	-	all_hematologic(112;0.0378)		813			Spectrin 9.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2437G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213698	0.79352	0.0	1.21E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.47177	0.85;0.85	4.28	3.37	0.38596	.	0.265991	0.19719	N	0.107627	T	0.43389	0.1245	L	0.60957	1.885	0.44619	D	0.997593	D	0.76494	0.999	D	0.75020	0.985	T	0.45381	-0.9265	10	0.10902	T	0.67	.	9.2651	0.37636	0.0:0.8984:0.0:0.1016	.	813	P02549	SPTA1_HUMAN	K	813	ENSP00000357130:E813K;ENSP00000357129:E813K	ENSP00000357129:E813K	E	-	1	0	SPTA1	156899143	1.000000	0.71417	0.249000	0.24280	0.961000	0.63080	5.158000	0.64917	1.012000	0.39366	0.563000	0.77884	GAA		0.512	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		7	51	0	0	0	0.006214	0	7	51		
VANGL2	57216	broad.mit.edu	37	1	160389332	160389332	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:160389332C>T	ENST00000368061.2	+	4	1207	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	245					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCCAGCCTCAGTTCACGCT	0.647																																						uc001fwb.1		NaN																	0				ovary(1)	1						c.(733-735)CAG>TAG		vang-like 2							42.0	47.0	45.0					1																	160389332		2203	4300	6503	SO:0001587	stop_gained	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160389332C>T	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.733C>T	1.37:g.160389332C>T	ENSP00000357040:p.Gln245*					VANGL2_uc001fwc.1_Nonsense_Mutation_p.Q245*	p.Q245*	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	1032	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		245			Cytoplasmic (Potential).		D3DVE9|Q5T212	Nonsense_Mutation	SNP	ENST00000368061.2	37	c.733C>T	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	C	42	9.756849	0.99256	.	.	ENSG00000162738	ENST00000368061	.	.	.	5.26	5.26	0.73747	.	0.134749	0.52532	D	0.000078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-25.9532	17.7936	0.88562	0.0:1.0:0.0:0.0	.	.	.	.	X	245	.	ENSP00000357040:Q245X	Q	+	1	0	VANGL2	158655956	0.869000	0.29996	0.986000	0.45419	0.994000	0.84299	1.573000	0.36472	2.606000	0.88127	0.563000	0.77884	CAG		0.647	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1		NM_020335		4	64	0	0	0	0.009096	0	4	64		
LY9	4063	broad.mit.edu	37	1	160793302	160793302	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:160793302G>C	ENST00000263285.6	+	8	1576	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q	LY9_ENST00000392203.4_Missense_Mutation_p.E426Q|LY9_ENST00000341032.4_Missense_Mutation_p.E412Q|LY9_ENST00000368037.5_Missense_Mutation_p.E502Q|LY9_ENST00000368040.1_Missense_Mutation_p.E154Q|LY9_ENST00000368041.2_Missense_Mutation_p.E386Q			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	516					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCAAGGATATGAGAAGCTGGA	0.552																																						uc001fwu.2		NaN																	0				ovary(1)	1						c.(1546-1548)GAG>CAG		lymphocyte antigen 9 isoform a							64.0	56.0	58.0					1																	160793302		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160793302G>C	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1546G>C	1.37:g.160793302G>C	ENSP00000263285:p.Glu516Gln					LY9_uc001fwv.2_Missense_Mutation_p.E502Q|LY9_uc001fww.2_Missense_Mutation_p.E426Q|LY9_uc001fwx.2_Missense_Mutation_p.E426Q|LY9_uc001fwy.1_Missense_Mutation_p.E314Q|LY9_uc001fwz.2_Missense_Mutation_p.E154Q	p.E516Q	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		8	1596	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		516			Cytoplasmic (Potential).		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1546G>C	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	5.370	0.253613	0.10185	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000368040;ENST00000263285;ENST00000392203;ENST00000368037;ENST00000368036;ENST00000368035	T;T;T;T	0.36340	1.26;2.3;1.3;2.3	3.34	1.1	0.20463	.	64.319600	0.00166	N	0.000002	T	0.08626	0.0214	L	0.34521	1.04	0.09310	N	1	B;B;P;P;B;B	0.38148	0.307;0.147;0.62;0.62;0.264;0.172	B;B;B;B;B;B	0.29176	0.031;0.035;0.099;0.099;0.05;0.023	T	0.08722	-1.0708	10	0.25751	T	0.34	-6.8262	4.5153	0.11932	0.144:0.2189:0.6371:0.0	.	154;462;386;412;502;516	Q5VYI1;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	Q	516;412;154;516;386;462;314;154	ENSP00000342921:E412Q;ENSP00000357019:E154Q;ENSP00000263285:E516Q;ENSP00000357014:E154Q	ENSP00000263285:E516Q	E	+	1	0	LY9	159059926	0.001000	0.12720	0.003000	0.11579	0.024000	0.10985	-0.111000	0.10807	0.280000	0.22209	0.462000	0.41574	GAG		0.552	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3		NM_002348		3	71	0	0	0	0.004672	0	3	71		
MPZ	4359	broad.mit.edu	37	1	161276525	161276525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:161276525G>A	ENST00000533357.1	-	3	487	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000336559.4_Nonsense_Mutation_p.Q141*|MPZ_ENST00000360451.6_Nonsense_Mutation_p.Q151*|MPZ_ENST00000526189.1_Intron	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	141	Ig-like V-type.				cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGCGTGACCTGAGAGGTCTTG	0.507																																						uc001gaf.3		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4	GRCh37	CM013410	MPZ	M		c.(451-453)CAG>TAG		myelin protein zero							212.0	176.0	188.0					1																	161276525		2203	4300	6503	SO:0001587	stop_gained	4359				synaptic transmission	integral to plasma membrane	structural molecule activity	g.chr1:161276525G>A	BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"""Immunoglobulin superfamily / V-set domain containing"""	7225	protein-coding gene	gene with protein product		159440	"""Charcot-Marie-Tooth neuropathy 1B"""	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.421C>T	1.37:g.161276525G>A	ENSP00000432943:p.Gln141*					MPZ_uc010pko.1_RNA	p.Q151*	NM_000530	NP_000521	P25189	MYP0_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	488	-	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	141			Ig-like V-type.|Extracellular (Potential).		Q16072|Q5VTH4|Q92677|Q9BR67	Nonsense_Mutation	SNP	ENST00000533357.1	37	c.451C>T	CCDS1229.2	.	.	.	.	.	.	.	.	.	.	G	35	5.540127	0.96474	.	.	ENSG00000158887	ENST00000533357;ENST00000360451;ENST00000336559	.	.	.	4.93	4.93	0.64822	.	0.230007	0.39759	N	0.001263	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-17.7247	9.1197	0.36780	0.0969:0.0:0.9031:0.0	.	.	.	.	X	141;151;141	.	ENSP00000337777:Q141X	Q	-	1	0	MPZ	159543149	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.367000	0.52350	2.543000	0.85770	0.609000	0.83330	CAG		0.507	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2		NM_000530		12	100	0	0	0	0.003163	0	12	100		
FCGR3A	2214	broad.mit.edu	37	1	161596168	161596168	+	Intron	SNP	C	C	T	rs200319084		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:161596168C>T	ENST00000540048.1	-	2	94				FCGR3B_ENST00000531221.1_Missense_Mutation_p.R151Q|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.R115Q|FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000294800.3_Missense_Mutation_p.R115Q|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAACACCCACCGAGGGGCCTG	0.562																																						uc009wul.2		NaN																	0					0						c.(343-345)CGG>CAG		low affinity immunoglobulin gamma Fc region	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						41.0	43.0	43.0					1																	161596168		2194	4298	6492	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161596168C>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+3989G>A	1.37:g.161596168C>T							p.R115Q	NM_000570	NP_000561	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	618	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		115					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.344G>A		.	.	.	.	.	.	.	.	.	.	-	9.985	1.229228	0.22542	.	.	ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776	T;T;T;T	0.11604	2.76;2.76;2.76;4.17	2.47	-3.0	0.05480	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.063440	0.07460	N	0.900383	T	0.01489	0.0048	N	0.25245	0.725	0.09310	N	1	B	0.26577	0.153	B	0.09377	0.004	T	0.47018	-0.9149	10	0.14656	T	0.56	.	7.4622	0.27302	0.0:0.239:0.0:0.761	.	115	O75015	FCG3B_HUMAN	Q	115;115;151;98	ENSP00000356941:R115Q;ENSP00000294800:R115Q;ENSP00000433642:R151Q;ENSP00000437084:R98Q	ENSP00000294800:R115Q	R	-	2	0	FCGR3B	159862792	0.000000	0.05858	0.000000	0.03702	0.873000	0.50193	-1.735000	0.01847	-0.664000	0.05324	0.393000	0.25936	CGG		0.562	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_000569		5	40	0	0	0	0.001168	0	5	40		
FCRLA	84824	broad.mit.edu	37	1	161681858	161681858	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:161681858G>A	ENST00000236938.6	+	4	927	c.685G>A	c.(685-687)Gat>Aat	p.D229N	FCRLA_ENST00000367959.2_Missense_Mutation_p.D235N|FCRLA_ENST00000367957.2_Missense_Mutation_p.D89N|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000540521.1_Missense_Mutation_p.D95N|FCRLA_ENST00000546024.1_Missense_Mutation_p.D140N|FCRLA_ENST00000367953.3_Missense_Mutation_p.D218N|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.D218N|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.D123N|FCRLA_ENST00000294796.4_Missense_Mutation_p.D78N|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000350710.3_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	212	Ig-like C2-type 2.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTTCTACAAGGATGGAAGGAT	0.562																																						uc001gbe.2		NaN																	0					0						c.(703-705)GAT>AAT		Fc receptor-like and mucin-like 1							64.0	75.0	71.0					1																	161681858		2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161681858G>A	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.685G>A	1.37:g.161681858G>A	ENSP00000236938:p.Asp229Asn					FCRLA_uc001gbd.2_Missense_Mutation_p.D229N|FCRLA_uc001gbf.2_Missense_Mutation_p.D140N|FCRLA_uc001gbg.2_Missense_Mutation_p.D89N|FCRLA_uc009wuo.2_Missense_Mutation_p.D95N|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	p.D235N	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		5	945	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		212			Ig-like C2-type 2.		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.703G>A	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375745	0.42105	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000540926;ENST00000367957;ENST00000309691;ENST00000294796;ENST00000367953	T;T;T;T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72	5.81	3.96	0.45880	.	0.262042	0.27513	N	0.019025	T	0.07503	0.0189	L	0.45744	1.44	0.32720	N	0.510473	P;B;P;P;B	0.51537	0.916;0.413;0.565;0.946;0.039	P;P;B;P;B	0.51582	0.674;0.506;0.246;0.673;0.082	T	0.18085	-1.0348	10	0.16896	T	0.51	.	8.5348	0.33357	0.1738:0.0:0.8262:0.0	.	95;89;140;235;229	F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.	N	229;235;140;95;218;89;123;78;218	ENSP00000236938:D229N;ENSP00000356936:D235N;ENSP00000439838:D140N;ENSP00000442870:D95N;ENSP00000446380:D218N;ENSP00000356934:D89N;ENSP00000309596:D123N;ENSP00000294796:D78N;ENSP00000356930:D218N	ENSP00000236938:D229N	D	+	1	0	FCRLA	159948482	0.978000	0.34361	0.908000	0.35775	0.361000	0.29550	1.617000	0.36943	0.814000	0.34374	-0.218000	0.12543	GAT		0.562	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1		NM_032738		9	77	0	0	0	0.004482	0	9	77		
OLFML2B	25903	broad.mit.edu	37	1	161993194	161993194	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:161993194G>A	ENST00000294794.3	-	1	450	c.27C>T	c.(25-27)ctC>ctT	p.L9L	OLFML2B_ENST00000367940.2_Silent_p.L9L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	9					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GAGCGAAGTAGAGAACTAGCA	0.632																																						uc001gbu.2		NaN																	0				skin(1)	1						c.(25-27)CTC>CTT		olfactomedin-like 2B precursor							55.0	56.0	56.0					1																	161993194		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161993194G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.27C>T	1.37:g.161993194G>A						OLFML2B_uc010pkq.1_Silent_p.L9L	p.L9L	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		1	451	-	all_hematologic(112;0.156)		9					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.27C>T	CCDS1236.1																																																																																				0.632	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2		NM_015441		6	56	0	0	0	0.001168	0	6	56		
UAP1	6675	broad.mit.edu	37	1	162535885	162535885	+	Silent	SNP	G	G	A	rs151151506	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:162535885G>A	ENST00000367925.1	+	1	59	c.27G>A	c.(25-27)acG>acA	p.T9T	UAP1_ENST00000367926.4_Silent_p.T9T|UAP1_ENST00000367924.1_Silent_p.T9T|UAP1_ENST00000271469.3_Silent_p.T9T			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	9					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCAAACTCACGTTGTCCAAAG	0.413													G|||	4	0.000798722	0.0	0.0	5008	,	,		19019	0.0		0.0	False		,,,				2504	0.0041					uc001gce.3		NaN																	0				ovary(2)|skin(2)|kidney(1)	5						c.(25-27)ACG>ACA		UDP-N-acetylglucosamine pyrophosphorylase 1		G		0,4406		0,0,2203	101.0	94.0	96.0		27	2.2	1.0	1	dbSNP_134	96	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	UAP1	NM_003115.4		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		9/506	162535885	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162535885G>A	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.27G>A	1.37:g.162535885G>A							p.T9T	NM_003115	NP_003106	Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		2	356	+	all_hematologic(112;0.115)		9					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Silent	SNP	ENST00000367925.1	37	c.27G>A																																																																																					0.413	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1		NM_003115		10	90	0	0	0	0.00245	0	10	90		
POU2F1	5451	broad.mit.edu	37	1	167367230	167367230	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:167367230G>A	ENST00000541643.3	+	12	1222		c.e12-1		POU2F1_ENST00000420254.3_Splice_Site|POU2F1_ENST00000429375.2_Splice_Site|POU2F1_ENST00000367865.1_Splice_Site|POU2F1_ENST00000367866.2_Splice_Site|POU2F1_ENST00000367862.5_Splice_Site			P14859	PO2F1_HUMAN	POU class 2 homeobox 1						gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CATTCTTACAGAGAACCTCTC	0.413																																						uc001gec.2		NaN																	0				central_nervous_system(2)|skin(2)|breast(1)	5						c.e12-1		POU class 2 homeobox 1							70.0	66.0	67.0					1																	167367230		2203	4300	6503	SO:0001630	splice_region_variant	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167367230G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1061-1G>A	1.37:g.167367230G>A						POU2F1_uc001ged.2_Splice_Site_p.E352_splice|POU2F1_uc001gee.2_Splice_Site_p.E354_splice|POU2F1_uc010plh.1_Splice_Site_p.E291_splice|POU2F1_uc001gef.2_Splice_Site_p.E366_splice|POU2F1_uc001geg.2_Splice_Site_p.E252_splice|POU2F1_uc009wvg.1_5'Flank	p.E354_splice	NM_002697	NP_002688	P14859	PO2F1_HUMAN			12	1223	+								B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Splice_Site	SNP	ENST00000541643.3	37	c.1061_splice		.	.	.	.	.	.	.	.	.	.	G	28.8	4.952033	0.92660	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	.	.	.	6.0	6.0	0.97389	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.483	0.99199	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POU2F1	165633854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.789000	0.99068	2.836000	0.97738	0.655000	0.94253	.		0.413	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_002697	Intron	6	26	0	0	0	0.00308	0	6	26		
RCSD1	92241	broad.mit.edu	37	1	167653186	167653186	+	Nonsense_Mutation	SNP	C	C	A	rs374902848		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:167653186C>A	ENST00000367854.3	+	2	387	c.56C>A	c.(55-57)tCg>tAg	p.S19*	RCSD1_ENST00000537350.1_Nonsense_Mutation_p.S19*	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	19					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCGTCCCCCTCGGTGGCCCAG	0.602																																						uc001gem.2		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(55-57)TCG>TAG		RCSD domain containing 1							119.0	133.0	128.0					1																	167653186		2203	4300	6503	SO:0001587	stop_gained	92241							g.chr1:167653186C>A	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.56C>A	1.37:g.167653186C>A	ENSP00000356828:p.Ser19*					RCSD1_uc010pli.1_Nonsense_Mutation_p.S19*	p.S19*	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN			2	243	+	all_hematologic(923;0.215)		19					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Nonsense_Mutation	SNP	ENST00000367854.3	37	c.56C>A	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721625	0.68959	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	.	.	.	5.25	5.25	0.73442	.	0.098006	0.41712	D	0.000833	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1883	16.6384	0.85065	0.0:1.0:0.0:0.0	.	.	.	.	X	19	.	ENSP00000355291:S19X	S	+	2	0	RCSD1	165919810	0.959000	0.32827	0.240000	0.24138	0.423000	0.31445	4.218000	0.58554	2.429000	0.82318	0.655000	0.94253	TCG		0.602	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1		NM_052862		47	376	1	0	1.19403e-26	0.00361	1.29171e-26	47	376		
ADCY10	55811	broad.mit.edu	37	1	167778974	167778974	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:167778974G>C	ENST00000367851.4	-	33	4958	c.4774C>G	c.(4774-4776)Cag>Gag	p.Q1592E	ADCY10_ENST00000367848.1_Missense_Mutation_p.Q1500E|ADCY10_ENST00000545172.1_Missense_Mutation_p.Q1439E	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1592					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGAAGATCCTGAATGTTTACC	0.373																																						uc001ger.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(4774-4776)CAG>GAG		adenylate cyclase 10							145.0	137.0	140.0					1																	167778974		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167778974G>C	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4774C>G	1.37:g.167778974G>C	ENSP00000356825:p.Gln1592Glu					ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Missense_Mutation_p.Q1500E|ADCY10_uc010plj.1_Missense_Mutation_p.Q1439E	p.Q1592E	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			33	5072	-			1592					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.4774C>G	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071806	0.36566	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.29655	1.56;1.56;1.56	5.44	-0.364	0.12553	.	1.288270	0.05253	N	0.514351	T	0.10423	0.0255	L	0.57536	1.79	0.23336	N	0.99789	B;B	0.15141	0.012;0.007	B;B	0.16289	0.015;0.006	T	0.29912	-0.9996	9	0.33940	T	0.23	-0.6107	2.4744	0.04572	0.0918:0.2812:0.3082:0.3188	.	1500;1592	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	E	1439;1592;1500	ENSP00000441992:Q1439E;ENSP00000356825:Q1592E;ENSP00000356822:Q1500E	ENSP00000356822:Q1500E	Q	-	1	0	ADCY10	166045598	0.009000	0.17119	0.001000	0.08648	0.271000	0.26615	0.227000	0.17795	0.224000	0.20940	0.591000	0.81541	CAG		0.373	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1		NM_018417		3	87	0	0	0	0.009096	0	3	87		
ADCY10	55811	broad.mit.edu	37	1	167849781	167849781	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:167849781G>A	ENST00000367851.4	-	10	1271	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L	ADCY10_ENST00000367848.1_Silent_p.L271L|ADCY10_ENST00000545172.1_Silent_p.L210L	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	363	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCACATTCCAGAGCATGAGTG	0.522																																						uc001ger.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1087-1089)CTG>TTG		adenylate cyclase 10							116.0	110.0	112.0					1																	167849781		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167849781G>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1087C>T	1.37:g.167849781G>A						ADCY10_uc009wvk.2_Silent_p.L271L|ADCY10_uc010plj.1_Silent_p.L210L|ADCY10_uc009wvl.2_Silent_p.L362L|ADCY10_uc009wvm.2_RNA	p.L363L	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			10	1385	-			363			Guanylate cyclase 2.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.1087C>T	CCDS1265.1																																																																																				0.522	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1		NM_018417		12	93	0	0	0	0.010729	0	12	93		
SLC19A2	10560	broad.mit.edu	37	1	169437922	169437922	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:169437922C>G	ENST00000236137.5	-	4	1419	c.1183G>C	c.(1183-1185)Gtc>Ctc	p.V395L	SLC19A2_ENST00000367804.4_Missense_Mutation_p.V194L	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	395					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	ATTCTGAAGACAACATAGGAT	0.383																																						uc001gge.3		NaN																	0					0						c.(1183-1185)GTC>CTC		solute carrier family 19, member 2							164.0	142.0	149.0					1																	169437922		2203	4300	6503	SO:0001583	missense	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169437922C>G	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1183G>C	1.37:g.169437922C>G	ENSP00000236137:p.Val395Leu					SLC19A2_uc001ggf.3_Missense_Mutation_p.V194L	p.V395L	NM_006996	NP_008927	O60779	S19A2_HUMAN			4	1387	-	all_hematologic(923;0.208)		395			Helical; (Potential).		B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	c.1183G>C	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	C	6.752	0.507628	0.12883	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	D;D;D	0.84146	-1.81;-1.81;-1.81	5.7	1.8	0.24995	Major facilitator superfamily domain, general substrate transporter (1);	0.440221	0.24993	N	0.033976	T	0.38134	0.1029	N	0.04132	-0.27	0.30911	N	0.729066	B;B	0.10296	0.003;0.0	B;B	0.11329	0.006;0.006	T	0.09487	-1.0672	9	0.06494	T	0.89	-15.0542	5.5068	0.16858	0.1241:0.539:0.0:0.3369	.	194;395	O60779-2;O60779	.;S19A2_HUMAN	L	395;194;357	ENSP00000236137:V395L;ENSP00000356778:V194L;ENSP00000356776:V357L	ENSP00000236137:V395L	V	-	1	0	SLC19A2	167704546	0.000000	0.05858	0.827000	0.32855	0.999000	0.98932	-0.665000	0.05286	0.353000	0.24079	0.650000	0.86243	GTC		0.383	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1		NM_006996		5	56	0	0	0	0.00308	0	5	56		
SLC19A2	10560	broad.mit.edu	37	1	169446801	169446801	+	Silent	SNP	G	G	A	rs368349356		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:169446801G>A	ENST00000236137.5	-	2	635	c.399C>T	c.(397-399)atC>atT	p.I133I	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	133					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	TGGCTGTGGCGATGCCATAAA	0.453																																						uc001gge.3		NaN																	0					0						c.(397-399)ATC>ATT		solute carrier family 19, member 2		G		0,4406		0,0,2203	74.0	78.0	77.0		399	-9.7	0.2	1		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC19A2	NM_006996.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		133/498	169446801	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169446801G>A	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.399C>T	1.37:g.169446801G>A						SLC19A2_uc001ggf.3_Intron	p.I133I	NM_006996	NP_008927	O60779	S19A2_HUMAN			2	603	-	all_hematologic(923;0.208)		133			Helical; (Potential).		B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Silent	SNP	ENST00000236137.5	37	c.399C>T	CCDS1280.1																																																																																				0.453	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1		NM_006996		10	94	0	0	0	0.010729	0	10	94		
F5	2153	broad.mit.edu	37	1	169512269	169512269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:169512269C>T	ENST00000367797.3	-	13	2260	c.2059G>A	c.(2059-2061)Gat>Aat	p.D687N	F5_ENST00000367796.3_Missense_Mutation_p.D692N	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	687					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCATCATCATCTGGGATACAT	0.398																																						uc001ggg.1		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2059-2061)GAT>AAT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						136.0	135.0	136.0					1																	169512269		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169512269C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2059G>A	1.37:g.169512269C>T	ENSP00000356771:p.Asp687Asn						p.D687N	NM_000130	NP_000121	P12259	FA5_HUMAN			13	2204	-	all_hematologic(923;0.208)		687					A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.2059G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.892105	0.33442	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98531	-4.98;-4.98	5.98	-1.97	0.07503	.	0.614830	0.17519	N	0.171326	D	0.89884	0.6844	L	0.42245	1.32	0.24176	N	0.995606	B	0.17465	0.022	B	0.14578	0.011	T	0.77048	-0.2732	9	0.21014	T	0.42	-2.8382	5.3861	0.16218	0.1993:0.4297:0.0:0.3709	.	687	P12259	FA5_HUMAN	N	687;692	ENSP00000356771:D687N;ENSP00000356770:D692N	ENSP00000356770:D692N	D	-	1	0	F5	167778893	0.063000	0.20901	0.004000	0.12327	0.027000	0.11550	0.117000	0.15583	-0.681000	0.05204	-0.229000	0.12294	GAT		0.398	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		NM_000130		6	53	0	0	0	0.001168	0	6	53		
PRDX6	9588	broad.mit.edu	37	1	173454533	173454533	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:173454533G>A	ENST00000340385.5	+	3	418	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	96	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)	p.E96*(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						AGAGCCCACAGAAAAGTTACC	0.438																																						uc001giy.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(286-288)GAA>AAA		peroxiredoxin 6							145.0	136.0	139.0					1																	173454533		2203	4300	6503	SO:0001583	missense	9588				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding	g.chr1:173454533G>A	D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.286G>A	1.37:g.173454533G>A	ENSP00000342026:p.Glu96Lys						p.E96K	NM_004905	NP_004896	P30041	PRDX6_HUMAN			3	337	+			96			Thioredoxin.		A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Missense_Mutation	SNP	ENST00000340385.5	37	c.286G>A	CCDS1307.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273285	0.23221	.	.	ENSG00000117592	ENST00000340385	T	0.13196	2.61	5.27	5.27	0.74061	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.273464	0.43110	D	0.000610	T	0.03651	0.0104	N	0.10874	0.06	0.43338	D	0.995385	B	0.02656	0.0	B	0.06405	0.002	T	0.39860	-0.9593	10	0.20519	T	0.43	-17.9239	18.0125	0.89229	0.0:0.0:1.0:0.0	.	96	P30041	PRDX6_HUMAN	K	96	ENSP00000342026:E96K	ENSP00000342026:E96K	E	+	1	0	PRDX6	171721156	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	2.324000	0.43831	2.614000	0.88457	0.650000	0.86243	GAA		0.438	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084222.1		NM_004905		3	37	0	0	0	0.009096	0	3	37		
GPR52	9293	broad.mit.edu	37	1	174417291	174417291	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:174417291G>T	ENST00000367685.2	+	1	80	c.42G>T	c.(40-42)atG>atT	p.M14I	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	14					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TCCTGAACATGAGCAGTGGCA	0.507																																					Ovarian(92;924 1390 1930 16467 40583)	uc001gka.1		NaN																	0				skin(1)	1						c.(40-42)ATG>ATT		G protein-coupled receptor 52							185.0	152.0	163.0					1																	174417291		2203	4300	6503	SO:0001583	missense	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417291G>T	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.42G>T	1.37:g.174417291G>T	ENSP00000356658:p.Met14Ile					RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	p.M14I	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN			1	80	+			14			Extracellular (Potential).		O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	c.42G>T	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	G	7.916	0.737502	0.15574	.	.	ENSG00000203737	ENST00000367685	T	0.59502	0.26	6.03	4.09	0.47781	.	0.860593	0.09691	U	0.768391	T	0.41949	0.1181	N	0.19112	0.55	0.22819	N	0.998698	B	0.02656	0.0	B	0.01281	0.0	T	0.26395	-1.0104	10	0.22109	T	0.4	2.0647	10.1601	0.42847	0.0671:0.2607:0.6722:0.0	.	14	Q9Y2T5	GPR52_HUMAN	I	14	ENSP00000356658:M14I	ENSP00000356658:M14I	M	+	3	0	GPR52	172683914	1.000000	0.71417	0.788000	0.31933	0.993000	0.82548	2.884000	0.48562	0.808000	0.34231	0.655000	0.94253	ATG		0.507	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1		NM_005684		12	91	1	0	2.61681e-11	0.00245	2.77755e-11	12	91		
TNN	63923	broad.mit.edu	37	1	175097777	175097777	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:175097777G>A	ENST00000239462.4	+	15	3338	c.3225G>A	c.(3223-3225)caG>caA	p.Q1075Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1075	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGTTCAGCAGAACAGCAATG	0.582																																						uc001gkl.1		NaN																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(3223-3225)CAG>CAA		tenascin N precursor							99.0	94.0	96.0					1																	175097777		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175097777G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3225G>A	1.37:g.175097777G>A							p.Q1075Q	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	15	3338	+		Breast(1374;0.000962)	1075			Fibrinogen C-terminal.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.3225G>A	CCDS30943.1																																																																																				0.582	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1		XM_040527		80	197	0	0	0	0.00361	0	80	197		
TNR	7143	broad.mit.edu	37	1	175372540	175372540	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:175372540C>T	ENST00000367674.2	-	4	1420	c.712G>A	c.(712-714)Gac>Aac	p.D238N	TNR_ENST00000263525.2_Missense_Mutation_p.D238N			Q92752	TENR_HUMAN	tenascin R	238	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAGCTGCAGTCTGTTGGGCAC	0.647																																						uc001gkp.1		NaN																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(712-714)GAC>AAC		tenascin R precursor							93.0	85.0	87.0					1																	175372540		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372540C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.712G>A	1.37:g.175372540C>T	ENSP00000356646:p.Asp238Asn					TNR_uc009wwu.1_Missense_Mutation_p.D238N|TNR_uc010pmz.1_Missense_Mutation_p.D238N	p.D238N	NM_003285	NP_003276	Q92752	TENR_HUMAN			2	793	-	Renal(580;0.146)		238			Cys-rich.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.712G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283179	0.80803	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.09817	2.94;2.94	6.17	6.17	0.99709	EGF, extracellular (1);	0.101842	0.64402	D	0.000003	T	0.16599	0.0399	N	0.16656	0.425	0.58432	D	0.999994	D;P	0.61080	0.989;0.469	P;B	0.56278	0.795;0.223	T	0.04165	-1.0972	10	0.29301	T	0.29	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	238;238	B4DIX8;Q92752	.;TENR_HUMAN	N	238	ENSP00000356646:D238N;ENSP00000263525:D238N	ENSP00000263525:D238N	D	-	1	0	TNR	173639163	1.000000	0.71417	0.973000	0.42090	0.966000	0.64601	4.799000	0.62517	2.941000	0.99782	0.655000	0.94253	GAC		0.647	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4		NM_003285		30	310	0	0	0	0.009535	0	30	310		
ASTN1	460	broad.mit.edu	37	1	176833599	176833599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:176833599G>A	ENST00000367654.3	-	23	3941	c.3730C>T	c.(3730-3732)Ctt>Ttt	p.L1244F	ASTN1_ENST00000361833.2_Missense_Mutation_p.L1236F|ASTN1_ENST00000367657.3_Intron	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1244					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTTCCTGAAGGAGTCCATTG	0.532																																						uc001glc.2		NaN																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3706-3708)CTT>TTT		astrotactin isoform 1							63.0	62.0	62.0					1																	176833599		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176833599G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3730C>T	1.37:g.176833599G>A	ENSP00000356626:p.Leu1244Phe					ASTN1_uc001glb.1_Intron	p.L1236F	NM_004319	NP_004310	O14525	ASTN1_HUMAN			23	3918	-			1244					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3706C>T		.	.	.	.	.	.	.	.	.	.	G	22.9	4.347906	0.82022	.	.	ENSG00000152092	ENST00000361833;ENST00000367654	T;T	0.15139	2.45;2.45	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.02244	-1.1189	10	0.87932	D	0	-11.6385	11.9999	0.53224	0.0856:0.0:0.9144:0.0	.	1236	O14525-2	.	F	1236;1244	ENSP00000354536:L1236F;ENSP00000356626:L1244F	ENSP00000354536:L1236F	L	-	1	0	ASTN1	175100222	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.861000	0.69553	2.282000	0.76494	0.555000	0.69702	CTT		0.532	ASTN1-201	KNOWN	basic	protein_coding	protein_coding			NM_004319		7	60	0	0	0	0.00308	0	7	60		
SEC16B	89866	broad.mit.edu	37	1	177937001	177937001	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:177937001G>C	ENST00000308284.6	-	2	205	c.116C>G	c.(115-117)tCt>tGt	p.S39C	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.S39C	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	39	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ATTGTGCCAAGAGTGAGGGAC	0.607																																						uc001gli.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(115-117)TCT>TGT		leucine zipper transcription regulator 2							88.0	88.0	88.0					1																	177937001		2040	4206	6246	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177937001G>C	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.116C>G	1.37:g.177937001G>C	ENSP00000308339:p.Ser39Cys					SEC16B_uc001glk.1_5'UTR|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001glj.1_Missense_Mutation_p.S39C|SEC16B_uc001gll.3_Missense_Mutation_p.S39C	p.S39C	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			2	206	-			39			Required for endoplasmic reticulum localization.		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.116C>G	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797295	0.31777	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000464631	T;T	0.47528	2.42;0.84	5.58	5.58	0.84498	.	0.721838	0.13093	N	0.414404	T	0.51822	0.1697	L	0.54323	1.7	0.09310	N	0.999999	D;P;P	0.55172	0.97;0.856;0.856	P;P;P	0.45946	0.498;0.498;0.498	T	0.51036	-0.8756	10	0.49607	T	0.09	-1.828	16.5095	0.84280	0.0:0.0:1.0:0.0	.	39;39;39	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	C	39	ENSP00000308339:S39C;ENSP00000431727:S39C	ENSP00000308339:S39C	S	-	2	0	AL359075.1	176203624	0.028000	0.19301	0.072000	0.20136	0.003000	0.03518	2.014000	0.40951	2.618000	0.88619	0.557000	0.71058	TCT		0.607	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16		NM_033127		20	150	0	0	0	0.002299	0	20	150		
TOR3A	64222	broad.mit.edu	37	1	179054980	179054980	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:179054980C>T	ENST00000367627.3	+	3	1343	c.591C>T	c.(589-591)ttC>ttT	p.F197F	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Silent_p.F197F	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	197					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCAGGATGTTCATCGCCACGT	0.592																																						uc001gmd.2		NaN																	0				pancreas(1)	1						c.(589-591)TTC>TTT		torsin family 3, member A precursor							95.0	76.0	83.0					1																	179054980		2203	4300	6503	SO:0001819	synonymous_variant	64222				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	g.chr1:179054980C>T	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.591C>T	1.37:g.179054980C>T						TOR3A_uc010pnd.1_Intron	p.F197F	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN			3	743	+			197					B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Silent	SNP	ENST00000367627.3	37	c.591C>T	CCDS1329.1																																																																																				0.592	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1		NM_022371		19	139	0	0	0	0.007413	0	19	139		
TDRD5	163589	broad.mit.edu	37	1	179600039	179600039	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:179600039G>A	ENST00000367614.1	+	7	1469	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K	TDRD5_ENST00000444136.1_Silent_p.K370K|TDRD5_ENST00000294848.8_Silent_p.K370K	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	370					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATGCGGATAAGAAGCCTCTAC	0.413																																						uc001gnf.1		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1108-1110)AAG>AAA		tudor domain containing 5							131.0	123.0	126.0					1																	179600039		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179600039G>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1110G>A	1.37:g.179600039G>A						TDRD5_uc010pnp.1_Silent_p.K370K|TDRD5_uc001gnh.1_5'UTR	p.K370K	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			7	1360	+			370			Lotus/OST-HTH 3.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.1110G>A	CCDS1332.1																																																																																				0.413	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1		NM_173533		4	84	0	0	0	0.008291	0	4	84		
TOR1AIP1	26092	broad.mit.edu	37	1	179883175	179883175	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:179883175C>G	ENST00000606911.2	+	9	1141	c.950C>G	c.(949-951)tCa>tGa	p.S317*	TOR1AIP1_ENST00000528443.2_Nonsense_Mutation_p.S318*|TOR1AIP1_ENST00000435319.4_Nonsense_Mutation_p.S196*|TOR1AIP1_ENST00000271583.3_Nonsense_Mutation_p.S333*|TOR1AIP1_ENST00000474875.1_3'UTR			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	317					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CAGTCACCATCAACCTCCAGC	0.303																																						uc001gnq.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(949-951)TCA>TGA		lamina-associated polypeptide 1B							88.0	83.0	85.0					1																	179883175		2203	4300	6503	SO:0001587	stop_gained	26092					integral to membrane|nuclear inner membrane		g.chr1:179883175C>G		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.950C>G	1.37:g.179883175C>G	ENSP00000476687:p.Ser317*						p.S317*	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN			9	1168	+			317			Nuclear (Potential).		A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Nonsense_Mutation	SNP	ENST00000606911.2	37	c.950C>G	CCDS1335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.652556|4.652556	0.88056|0.88056	.|.	.|.	ENSG00000143337|ENSG00000143337	ENST00000527391|ENST00000528443;ENST00000271583;ENST00000435319	.|.	.|.	.|.	5.52|5.52	3.21|3.21	0.36854|0.36854	.|.	.|0.560135	.|0.15219	.|N	.|0.274024	T|.	0.56731|.	0.2005|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.51639|.	-0.8680|.	4|.	.|.	.|.	.|.	-0.0169|-0.0169	7.6948|7.6948	0.28587|0.28587	0.0:0.7584:0.0:0.2416|0.0:0.7584:0.0:0.2416	.|.	.|.	.|.	.|.	M|X	193|318;333;317	.|.	.|.	I|S	+|+	3|2	3|0	TOR1AIP1|TOR1AIP1	178149798|178149798	0.349000|0.349000	0.24870|0.24870	0.003000|0.003000	0.11579|0.11579	0.376000|0.376000	0.30014|0.30014	1.172000|1.172000	0.31908|0.31908	1.244000|1.244000	0.43870|0.43870	0.563000|0.563000	0.77884|0.77884	ATC|TCA		0.303	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4		NM_015602		4	52	0	0	0	0.001984	0	4	52		
HMCN1	83872	broad.mit.edu	37	1	186037086	186037086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:186037086G>A	ENST00000271588.4	+	50	8055	c.7826G>A	c.(7825-7827)tGg>tAg	p.W2609*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.W2609*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2609	Ig-like C2-type 24.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACCATCACCTGGTTTAAGGAT	0.428																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(7825-7827)TGG>TAG		hemicentin 1 precursor							187.0	170.0	176.0					1																	186037086		2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186037086G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7826G>A	1.37:g.186037086G>A	ENSP00000271588:p.Trp2609*						p.W2609*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			50	8055	+			2609			Ig-like C2-type 24.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.7826G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	51	17.496137	0.99887	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3325	0.94297	0.0:0.0:1.0:0.0	.	.	.	.	X	2609	.	ENSP00000271588:W2609X	W	+	2	0	HMCN1	184303709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.827000	0.99397	2.557000	0.86248	0.650000	0.86243	TGG		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		16	62	0	0	0	0.002299	0	16	62		
TPR	7175	broad.mit.edu	37	1	186322838	186322838	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:186322838C>T	ENST00000367478.4	-	18	2612	c.2316G>A	c.(2314-2316)gaG>gaA	p.E772E	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	772					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CAGCTAGCTTCTCATTTGCTC	0.363			T	NTRK1	papillary thyroid																																	uc001grv.2		NaN		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(2314-2316)GAG>GAA		nuclear pore complex-associated protein TPR							274.0	252.0	259.0					1																	186322838		1914	4133	6047	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186322838C>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2316G>A	1.37:g.186322838C>T							p.E772E	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	18	2613	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	772			Potential.		Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.2316G>A	CCDS41446.1																																																																																				0.363	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2		NM_003292		17	135	0	0	0	0.00278	0	17	135		
BRINP3	339479	broad.mit.edu	37	1	190250836	190250836	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:190250836C>T	ENST00000367462.3	-	3	512	c.281G>A	c.(280-282)aGa>aAa	p.R94K	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	94	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AAGGAAATTTCTTCTCTCAAC	0.398																																						uc001gse.1		NaN																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(280-282)AGA>AAA		family with sequence similarity 5, member C							83.0	79.0	80.0					1																	190250836		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190250836C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.281G>A	1.37:g.190250836C>T	ENSP00000356432:p.Arg94Lys					FAM5C_uc010pot.1_Intron	p.R94K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			3	513	-	Prostate(682;0.198)		94					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.281G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525893	0.64860	.	.	ENSG00000162670	ENST00000367462	D	0.83755	-1.76	5.88	5.88	0.94601	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.84884	0.5571	N	0.25647	0.755	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.80274	-0.1451	10	0.16420	T	0.52	.	17.7103	0.88319	0.0:1.0:0.0:0.0	.	94	Q76B58	FAM5C_HUMAN	K	94	ENSP00000356432:R94K	ENSP00000356432:R94K	R	-	2	0	FAM5C	188517459	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.995000	0.57001	2.787000	0.95880	0.585000	0.79938	AGA		0.398	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1		NM_199051		3	9	0	0	0	0.004672	0	3	9		
PHLDA3	23612	broad.mit.edu	37	1	201437671	201437671	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:201437671C>T	ENST00000367311.3	-	1	641	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PHLDA3_ENST00000485436.1_5'UTR|PHLDA3_ENST00000367309.1_Missense_Mutation_p.E82K	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	82	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						AAGTCGATCTCGCCGCCCCCT	0.652																																						uc001gwq.2		NaN																	0					0						c.(244-246)GAG>AAG		pleckstrin homology-like domain, family A,							68.0	73.0	71.0					1																	201437671		2203	4300	6503	SO:0001583	missense	23612				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding	g.chr1:201437671C>T	AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"""pleckstrin homology-like domain, family A, member 2"""	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.244G>A	1.37:g.201437671C>T	ENSP00000356280:p.Glu82Lys					PHLDA3_uc009wzx.2_5'UTR	p.E82K	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN			1	629	-			82			PH.		B2R5A4|Q53HD6|Q8NBW9	Missense_Mutation	SNP	ENST00000367311.3	37	c.244G>A	CCDS1412.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571057	0.96553	.	.	ENSG00000174307	ENST00000367311;ENST00000367309	T;T	0.29917	1.55;1.55	3.75	3.75	0.43078	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	U	0.000000	T	0.50718	0.1632	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.56751	-0.7927	10	0.72032	D	0.01	-22.8563	15.91	0.79467	0.0:1.0:0.0:0.0	.	82	Q9Y5J5	PHLA3_HUMAN	K	82	ENSP00000356280:E82K;ENSP00000356278:E82K	ENSP00000356278:E82K	E	-	1	0	PHLDA3	199704294	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.514000	0.81750	1.796000	0.52611	0.491000	0.48974	GAG		0.652	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087020.2		NM_012396		62	139	0	0	0	0.00361	0	62	139		
RNPEP	6051	broad.mit.edu	37	1	201965372	201965372	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:201965372G>A	ENST00000295640.4	+	4	878	c.835G>A	c.(835-837)Gga>Aga	p.G279R	RNPEP_ENST00000367286.3_Intron|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.5_ENST00000608886.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	279					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAAGCTTTTTGGACCTTATGT	0.493																																					GBM(19;39 479 7473 13131 19462)	uc001gxd.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(835-837)GGA>AGA		arginyl aminopeptidase							288.0	268.0	275.0					1																	201965372		2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201965372G>A	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.835G>A	1.37:g.201965372G>A	ENSP00000295640:p.Gly279Arg					RNPEP_uc001gxe.2_5'UTR|RNPEP_uc001gxf.2_Missense_Mutation_p.G148R	p.G279R	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	4	864	+			279					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.835G>A	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881856	0.72294	.	.	ENSG00000176393	ENST00000295640;ENST00000447312;ENST00000449524	T;T;T	0.09538	2.97;2.97;2.97	5.15	4.24	0.50183	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.38799	0.1054	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.44267	-0.9339	10	0.66056	D	0.02	-5.9426	12.3368	0.55071	0.0835:0.0:0.9165:0.0	.	287;279	Q7RU04;Q9H4A4	.;AMPB_HUMAN	R	279;148;25	ENSP00000295640:G279R;ENSP00000389602:G148R;ENSP00000407614:G25R	ENSP00000295640:G279R	G	+	1	0	RNPEP	200231995	1.000000	0.71417	0.914000	0.36105	0.950000	0.60333	9.115000	0.94336	1.137000	0.42214	0.655000	0.94253	GGA		0.493	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1		NM_020216		13	147	0	0	0	0.008871	0	13	147		
PPP1R15B	84919	broad.mit.edu	37	1	204380470	204380470	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:204380470A>G	ENST00000367188.4	-	1	449	c.70T>C	c.(70-72)Ttt>Ctt	p.F24L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	24					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CGAGGGAAAAAGGGTGGCCAG	0.627																																						uc001hav.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(70-72)TTT>CTT		protein phosphatase 1, regulatory subunit 15B							41.0	52.0	48.0					1																	204380470		2201	4299	6500	SO:0001583	missense	84919				regulation of translation			g.chr1:204380470A>G	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.70T>C	1.37:g.204380470A>G	ENSP00000356156:p.Phe24Leu						p.F24L	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	475	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		24					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.70T>C	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.343788	0.24339	.	.	ENSG00000158615	ENST00000367188	T	0.24151	1.87	4.77	0.894	0.19242	Protein phosphatase 1, regulatory subunit 15B, N-terminal (1);	0.379360	0.19194	N	0.120358	T	0.14917	0.0360	L	0.29908	0.895	0.23568	N	0.997399	B	0.06786	0.001	B	0.06405	0.002	T	0.18587	-1.0332	10	0.33940	T	0.23	.	5.4501	0.16560	0.5687:0.3383:0.093:0.0	.	24	Q5SWA1	PR15B_HUMAN	L	24	ENSP00000356156:F24L	ENSP00000356156:F24L	F	-	1	0	PPP1R15B	202647093	0.000000	0.05858	0.048000	0.18961	0.007000	0.05969	-0.374000	0.07484	-0.059000	0.13154	-0.274000	0.10170	TTT		0.627	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1		NM_032833		4	117	0	0	0	0.001168	0	4	117		
SLC45A3	85414	broad.mit.edu	37	1	205628553	205628553	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:205628553C>A	ENST00000367145.3	-	5	1766	c.1471G>T	c.(1471-1473)Gac>Tac	p.D491Y	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	491					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			ATGGCGAGGTCCAGGCAGATG	0.642			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hda.1		NaN		Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	ETV1|ETV5|ELK4|ERG		prostate 	SLC45A3/BRAF(2)	0				ovary(2)|prostate(2)	4						c.(1471-1473)GAC>TAC		prostein							55.0	50.0	52.0					1																	205628553		2202	4300	6502	SO:0001583	missense	85414				transmembrane transport	integral to membrane		g.chr1:205628553C>A	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1471G>T	1.37:g.205628553C>A	ENSP00000356113:p.Asp491Tyr		OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2153	SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	p.D491Y	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		5	1810	-	Breast(84;0.07)		491					A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	c.1471G>T	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127042	0.94429	.	.	ENSG00000158715	ENST00000367145	T	0.56776	0.44	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.71307	0.3324	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.73560	-0.3944	10	0.87932	D	0	-35.2121	18.9346	0.92580	0.0:1.0:0.0:0.0	.	491	Q96JT2	S45A3_HUMAN	Y	491	ENSP00000356113:D491Y	ENSP00000356113:D491Y	D	-	1	0	SLC45A3	203895176	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.772000	0.85439	2.572000	0.86782	0.491000	0.48974	GAC		0.642	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1		NM_033102		18	46	1	0	2.32416e-17	0.002299	2.50175e-17	18	46		
AVPR1B	553	broad.mit.edu	37	1	206224493	206224493	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:206224493C>G	ENST00000367126.4	+	1	518	c.53C>G	c.(52-54)tCt>tGt	p.S18C	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	18					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGCACCCTCTCTGCCCCCAAT	0.652																																						uc001hds.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(52-54)TCT>TGT		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						135.0	159.0	151.0					1																	206224493		2203	4300	6503	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206224493C>G	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.53C>G	1.37:g.206224493C>G	ENSP00000356094:p.Ser18Cys						p.S18C	NM_000707	NP_000698	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	211	+			18			Extracellular (Potential).		B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.53C>G	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	C	5.260	0.233484	0.09969	.	.	ENSG00000198049	ENST00000367126	T	0.65178	-0.14	4.96	3.03	0.35002	.	0.663280	0.12444	N	0.468395	T	0.58652	0.2137	M	0.62723	1.935	0.09310	N	1	P	0.52061	0.95	P	0.45232	0.474	T	0.51442	-0.8705	10	0.51188	T	0.08	-1.4308	5.3478	0.16018	0.0:0.6529:0.1673:0.1798	.	18	P47901	V1BR_HUMAN	C	18	ENSP00000356094:S18C	ENSP00000356094:S18C	S	+	2	0	AVPR1B	204391116	0.833000	0.29383	0.502000	0.27614	0.013000	0.08279	0.878000	0.28126	0.650000	0.30769	-0.400000	0.06385	TCT		0.652	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1		NM_000707		109	506	0	0	0	0.00361	0	109	506		
DYRK3	8444	broad.mit.edu	37	1	206821558	206821558	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:206821558G>C	ENST00000367109.2	+	3	1183	c.1015G>C	c.(1015-1017)Gaa>Caa	p.E339Q	DYRK3_ENST00000367106.1_Missense_Mutation_p.E319Q|DYRK3_ENST00000367108.3_Missense_Mutation_p.E319Q|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	339	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTGAAGCCAGAAAACATTCT	0.468																																					Melanoma(164;427 2622 26826 51707)	uc001hej.2		NaN																	0				stomach(2)|central_nervous_system(1)	3						c.(1015-1017)GAA>CAA		dual-specificity tyrosine-(Y)-phosphorylation							90.0	95.0	93.0					1																	206821558		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821558G>C	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1015G>C	1.37:g.206821558G>C	ENSP00000356076:p.Glu339Gln					DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.E319Q	p.E339Q	NM_003582	NP_003573	O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	1183	+	Breast(84;0.183)		339			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.1015G>C	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134885	0.77662	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.25085	1.82;1.82;1.82	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.99	T	0.54241	-0.8323	10	0.87932	D	0	.	17.8295	0.88677	0.0:0.0:1.0:0.0	.	339;319	O43781;O43781-2	DYRK3_HUMAN;.	Q	339;319;319	ENSP00000356076:E339Q;ENSP00000356075:E319Q;ENSP00000356073:E319Q	ENSP00000356073:E319Q	E	+	1	0	DYRK3	204888181	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.647000	0.98478	2.692000	0.91855	0.448000	0.29417	GAA		0.468	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1		NM_003582		14	80	0	0	0	0.00499	0	14	80		
DYRK3	8444	broad.mit.edu	37	1	206821678	206821678	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:206821678G>C	ENST00000367109.2	+	3	1303	c.1135G>C	c.(1135-1137)Gaa>Caa	p.E379Q	DYRK3_ENST00000367106.1_Missense_Mutation_p.E359Q|DYRK3_ENST00000367108.3_Missense_Mutation_p.E359Q|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	379	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGAGCTCCAGAAATCATCTT	0.488																																					Melanoma(164;427 2622 26826 51707)	uc001hej.2		NaN																	0				stomach(2)|central_nervous_system(1)	3						c.(1135-1137)GAA>CAA		dual-specificity tyrosine-(Y)-phosphorylation							74.0	82.0	80.0					1																	206821678		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821678G>C	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1135G>C	1.37:g.206821678G>C	ENSP00000356076:p.Glu379Gln					DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.E359Q	p.E379Q	NM_003582	NP_003573	O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	1303	+	Breast(84;0.183)		379			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.1135G>C	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227605	0.58668	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.61980	0.06;0.06;0.06	5.3	4.38	0.52667	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047430	0.85682	D	0.000000	D	0.84602	0.5508	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89399	0.3694	10	0.87932	D	0	.	14.523	0.67867	0.0:0.0:0.8524:0.1476	.	379;359	O43781;O43781-2	DYRK3_HUMAN;.	Q	379;359;359	ENSP00000356076:E379Q;ENSP00000356075:E359Q;ENSP00000356073:E359Q	ENSP00000356073:E359Q	E	+	1	0	DYRK3	204888301	1.000000	0.71417	0.780000	0.31762	0.758000	0.43043	9.647000	0.98478	1.450000	0.47717	-0.335000	0.08231	GAA		0.488	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1		NM_003582		12	65	0	0	0	0.00245	0	12	65		
DYRK3	8444	broad.mit.edu	37	1	206821905	206821905	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:206821905G>A	ENST00000367109.2	+	3	1530	c.1362G>A	c.(1360-1362)gtG>gtA	p.V454V	DYRK3_ENST00000367106.1_Silent_p.V434V|DYRK3_ENST00000367108.3_Silent_p.V434V|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	454	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ACTGCTCTGTGACTACCCAGG	0.552																																					Melanoma(164;427 2622 26826 51707)	uc001hej.2		NaN																	0				stomach(2)|central_nervous_system(1)	3						c.(1360-1362)GTG>GTA		dual-specificity tyrosine-(Y)-phosphorylation							133.0	147.0	142.0					1																	206821905		2203	4300	6503	SO:0001819	synonymous_variant	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821905G>A	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1362G>A	1.37:g.206821905G>A						DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Silent_p.V434V	p.V454V	NM_003582	NP_003573	O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	1530	+	Breast(84;0.183)		454			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Silent	SNP	ENST00000367109.2	37	c.1362G>A	CCDS30999.1																																																																																				0.552	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1		NM_003582		35	372	0	0	0	0.011902	0	35	372		
CR1	1378	broad.mit.edu	37	1	207679266	207679266	+	Missense_Mutation	SNP	G	G	A	rs534091932		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:207679266G>A	ENST00000367049.4	+	2	139	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367053.1_Missense_Mutation_p.E47K|CR1_ENST00000400960.2_Missense_Mutation_p.E47K|CR1_ENST00000367051.1_Missense_Mutation_p.E47K|CR1_ENST00000367052.1_Missense_Mutation_p.E47K	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	47	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAATGCCCCAGAATGGCTTCC	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		22323	0.0		0.0	False		,,,				2504	0.001					uc001hfy.2		NaN																	0				ovary(3)	3						c.(139-141)GAA>AAA		complement receptor 1 isoform F precursor							142.0	133.0	136.0					1																	207679266		1881	4104	5985	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207679266G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.139G>A	1.37:g.207679266G>A	ENSP00000356016:p.Glu47Lys					CR1_uc009xcl.1_Missense_Mutation_p.E47K|CR1_uc001hfx.2_Missense_Mutation_p.E47K|CR1_uc010psg.1_Missense_Mutation_p.E47K|CR1_uc009xcj.1_Missense_Mutation_p.E47K|CR1_uc009xck.1_Missense_Mutation_p.E47K	p.E47K	NM_000573	NP_000564	P17927	CR1_HUMAN			2	279	+			47			Sushi 1.|Extracellular (Potential).		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.139G>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	8.334	0.827213	0.16749	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	3.78	-4.26	0.03755	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.55529	0.1926	M	0.77103	2.36	0.09310	N	1	B;P;B;B;B	0.34699	0.154;0.464;0.025;0.107;0.107	B;B;B;B;B	0.33750	0.118;0.169;0.067;0.043;0.043	T	0.53201	-0.8472	9	0.52906	T	0.07	.	5.7324	0.18047	0.0991:0.5723:0.1973:0.1313	.	47;47;22;47;47	Q5SR44;E9PQN4;Q5SR42;P17927;E9PDY4	.;.;.;CR1_HUMAN;.	K	47	ENSP00000356019:E47K;ENSP00000356018:E47K;ENSP00000356020:E47K;ENSP00000383744:E47K;ENSP00000436139:E47K;ENSP00000356016:E47K	ENSP00000356016:E47K	E	+	1	0	CR1	205745889	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.431000	0.06965	-0.573000	0.05998	0.491000	0.48974	GAA		0.428	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1		NM_000573		15	58	0	0	0	0.006122	0	15	58		
IRF6	3664	broad.mit.edu	37	1	209968639	209968639	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:209968639G>A	ENST00000367021.3	-	5	676	c.504C>T	c.(502-504)atC>atT	p.I168I	IRF6_ENST00000542854.1_Silent_p.I73I	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	168					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ACTCACCATTGATGTTCAGGA	0.488										HNSCC(57;0.16)																												uc001hhq.1		NaN																	0				ovary(2)	2						c.(502-504)ATC>ATT		interferon regulatory factor 6							272.0	210.0	231.0					1																	209968639		2203	4300	6503	SO:0001819	synonymous_variant	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209968639G>A	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.504C>T	1.37:g.209968639G>A		HNSCC(57;0.16)				IRF6_uc010psm.1_Silent_p.I73I|IRF6_uc009xct.1_Silent_p.I168I	p.I168I	NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	5	767	-			168					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Silent	SNP	ENST00000367021.3	37	c.504C>T	CCDS1492.1																																																																																				0.488	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1		NM_006147		40	141	0	0	0	0.00361	0	40	141		
USH2A	7399	broad.mit.edu	37	1	215916588	215916588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:215916588G>A	ENST00000307340.3	-	59	11865	c.11479C>T	c.(11479-11481)Caa>Taa	p.Q3827*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q3827*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3827	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGGTGGATTGATGATGACCA	0.438										HNSCC(13;0.011)																												uc001hku.1		NaN																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(11479-11481)CAA>TAA		usherin isoform B							147.0	140.0	142.0					1																	215916588		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215916588G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11479C>T	1.37:g.215916588G>A	ENSP00000305941:p.Gln3827*	HNSCC(13;0.011)					p.Q3827*	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	59	11866	-			3827			Fibronectin type-III 23.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.11479C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	53	21.288164	0.99939	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	4.94	4.02	0.46733	.	0.339400	0.21047	N	0.081072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	11.5079	0.50476	0.0:0.1355:0.7239:0.1406	.	.	.	.	X	3827	.	ENSP00000305941:Q3827X	Q	-	1	0	USH2A	213983211	0.142000	0.22610	0.002000	0.10522	0.027000	0.11550	2.935000	0.48963	1.410000	0.46936	0.655000	0.94253	CAA		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123		34	113	0	0	0	0.011902	0	34	113		
PARP1	142	broad.mit.edu	37	1	226555291	226555291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:226555291C>T	ENST00000366794.5	-	17	2439	c.2296G>A	c.(2296-2298)Gac>Aac	p.D766N	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	766	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AGCAGGTTGTCAAGCATTTCC	0.512								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001hqd.3		NaN																	0				lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10						c.(2296-2298)GAC>AAC	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 1							119.0	104.0	109.0					1																	226555291		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226555291C>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2296G>A	1.37:g.226555291C>T	ENSP00000355759:p.Asp766Asn						p.D766N	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	17	2467	-	Breast(184;0.133)		766			PARP alpha-helical.		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.2296G>A	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504590	0.96371	.	.	ENSG00000143799	ENST00000366794	T	0.13089	2.62	5.56	5.56	0.83823	Poly(ADP-ribose) polymerase, regulatory domain (4);	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	L	0.43757	1.38	0.80722	D	1	P	0.41008	0.735	P	0.48166	0.569	T	0.00287	-1.1846	10	0.62326	D	0.03	.	19.5194	0.95179	0.0:1.0:0.0:0.0	.	766	P09874	PARP1_HUMAN	N	766	ENSP00000355759:D766N	ENSP00000355759:D766N	D	-	1	0	PARP1	224621914	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.484000	0.81180	2.626000	0.88956	0.655000	0.94253	GAC		0.512	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1		NM_001618		25	73	0	0	0	0.002836	0	25	73		
PARP1	142	broad.mit.edu	37	1	226567866	226567866	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:226567866C>G	ENST00000366794.5	-	10	1444		c.e10-1			NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1						base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCCACCTCCTCTGTTCAAATT	0.388								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001hqd.3		NaN																	0				lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10						c.e10-1	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 1							53.0	50.0	51.0					1																	226567866		2203	4300	6503	SO:0001630	splice_region_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226567866C>G	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1301-1G>C	1.37:g.226567866C>G							p.K434_splice	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	10	1472	-	Breast(184;0.133)							B1ANJ4|Q8IUZ9	Splice_Site	SNP	ENST00000366794.5	37	c.1301_splice	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.327855	0.60743	.	.	ENSG00000143799	ENST00000366794	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4311	0.94768	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARP1	224634489	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	7.271000	0.78506	2.582000	0.87167	0.655000	0.94253	.		0.388	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1		NM_001618	Intron	3	26	0	0	0	0.009096	0	3	26		
WNT3A	89780	broad.mit.edu	37	1	228210479	228210479	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:228210479G>T	ENST00000284523.1	+	2	261	c.183G>T	c.(181-183)gaG>gaT	p.E61D	WNT3A_ENST00000366753.2_Missense_Mutation_p.E61D	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	61					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				ACTACGTGGAGATCATGCCCA	0.652																																						uc001hrq.1		NaN																	0				ovary(1)	1						c.(181-183)GAG>GAT		wingless-type MMTV integration site family,							56.0	54.0	54.0					1																	228210479		2203	4300	6503	SO:0001583	missense	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210479G>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.183G>T	1.37:g.228210479G>T	ENSP00000284523:p.Glu61Asp					WNT3A_uc001hrp.1_Missense_Mutation_p.E61D	p.E61D	NM_033131	NP_149122	P56704	WNT3A_HUMAN			2	261	+		Prostate(94;0.0405)	61					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.183G>T	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	G	5.172	0.217221	0.09810	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.75260	-0.92;-0.92	4.47	1.16	0.20824	.	0.060137	0.64402	D	0.000004	T	0.48241	0.1489	N	0.16656	0.425	0.46774	D	0.999195	B;B	0.10296	0.001;0.003	B;B	0.13407	0.009;0.009	T	0.39035	-0.9633	10	0.02654	T	1	.	6.591	0.22646	0.0815:0.122:0.6573:0.1393	.	61;61	P56704;Q3SY79	WNT3A_HUMAN;.	D	61	ENSP00000284523:E61D;ENSP00000355715:E61D	ENSP00000284523:E61D	E	+	3	2	WNT3A	226277102	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.290000	0.33319	0.485000	0.27652	-0.235000	0.12190	GAG		0.652	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1		NM_033131		26	111	1	0	9.65021e-13	0.010818	1.02851e-12	26	111		
OBSCN	84033	broad.mit.edu	37	1	228466439	228466439	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:228466439G>A	ENST00000422127.1	+	26	6953	c.6909G>A	c.(6907-6909)gaG>gaA	p.E2303E	OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000284548.11_Silent_p.E2303E|OBSCN_ENST00000359599.6_Silent_p.E1150E|OBSCN_ENST00000570156.2_Silent_p.E2732E|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2303	Ig-like 23.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TTGCCATGGAGAAGCACCGCG	0.667																																						uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(6907-6909)GAG>GAA		obscurin, cytoskeletal calmodulin and							46.0	54.0	52.0					1																	228466439		2119	4229	6348	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228466439G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6909G>A	1.37:g.228466439G>A						OBSCN_uc001hsn.2_Silent_p.E2303E|OBSCN_uc001hsp.1_Silent_p.E2E|OBSCN_uc001hsq.1_5'Flank	p.E2303E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			26	6953	+		Prostate(94;0.0405)	2303			Ig-like 23.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.6909G>A	CCDS58065.1																																																																																				0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		40	139	0	0	0	0.00361	0	40	139		
SIPA1L2	57568	broad.mit.edu	37	1	232615474	232615474	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:232615474C>T	ENST00000366630.1	-	6	2342	c.1984G>A	c.(1984-1986)Gat>Aat	p.D662N	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D662N			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	662	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCGTGGAATCAGCTGAAAAC	0.398																																						uc001hvg.2		NaN																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(1984-1986)GAT>AAT		signal-induced proliferation-associated 1 like							131.0	141.0	138.0					1																	232615474		2082	4253	6335	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232615474C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1984G>A	1.37:g.232615474C>T	ENSP00000355589:p.Asp662Asn						p.D662N	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			5	2142	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	662			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1984G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	36	5.669061	0.96754	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.93712	-3.27;-3.27	5.54	5.54	0.83059	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	L	0.45744	1.44	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95534	0.8606	10	0.62326	D	0.03	-29.4799	19.8424	0.96695	0.0:1.0:0.0:0.0	.	662	Q9P2F8	SI1L2_HUMAN	N	662	ENSP00000355589:D662N;ENSP00000262861:D662N	ENSP00000262861:D662N	D	-	1	0	SIPA1L2	230682097	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.764000	0.94973	0.655000	0.94253	GAT		0.398	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1		XM_045839		11	39	0	0	0	0.001368	0	11	39		
TOMM20	9804	broad.mit.edu	37	1	235292007	235292007	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:235292007G>A	ENST00000366607.4	-	1	244	c.24C>T	c.(22-24)atC>atT	p.I8I	SNORA14B_ENST00000384452.1_RNA|RBM34_ENST00000495224.1_5'Flank	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	8					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|unfolded protein binding (GO:0051082)			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			CACCGGCGGCGATGGCGCTGT	0.607																																						uc001hwl.2		NaN																	0					0						c.(22-24)ATC>ATT		translocase of outer mitochondrial membrane 20							103.0	106.0	105.0					1																	235292007		2203	4300	6503	SO:0001819	synonymous_variant	9804				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding	g.chr1:235292007G>A		CCDS1603.1	1q42	2008-07-18			ENSG00000173726	ENSG00000173726			20947	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type II"""	601848				7498524, 7589431, 15733919	Standard	NM_014765		Approved	KIAA0016, TOM20, MOM19, MAS20	uc001hwl.3	Q15388	OTTHUMG00000039619	ENST00000366607.4:c.24C>T	1.37:g.235292007G>A						SNORA14B_uc001hwm.1_5'Flank	p.I8I	NM_014765	NP_055580	Q15388	TOM20_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)		1	250	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	8			Helical; (Potential).		A8K195|Q498B3|Q6IBT4	Silent	SNP	ENST00000366607.4	37	c.24C>T	CCDS1603.1																																																																																				0.607	TOMM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095551.1		NM_014765		72	168	0	0	0	0.00361	0	72	168		
ARID4B	51742	broad.mit.edu	37	1	235345386	235345386	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:235345386C>T	ENST00000264183.3	-	20	3345	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Missense_Mutation_p.E864K|ARID4B_ENST00000366603.2_Missense_Mutation_p.E950K	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	950					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GCTGCAGCCTCAGTATCAGAG	0.517																																						uc001hwq.2		NaN																	0				ovary(2)|lung(1)	3						c.(2848-2850)GAG>AAG		AT rich interactive domain 4B isoform 1							64.0	67.0	66.0					1																	235345386		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345386C>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2848G>A	1.37:g.235345386C>T	ENSP00000264183:p.Glu950Lys					ARID4B_uc001hwr.2_Missense_Mutation_p.E864K|ARID4B_uc001hws.3_Missense_Mutation_p.E864K|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.E631K	p.E950K	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3346	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	950					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.2848G>A	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.788169	0.49997	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.29655	1.56;1.6;1.6	5.1	5.1	0.69264	.	0.102602	0.64402	D	0.000003	T	0.43634	0.1256	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.71674	0.998;0.99;0.998;0.982	D;D;D;D	0.78314	0.991;0.979;0.991;0.952	T	0.38628	-0.9652	10	0.51188	T	0.08	-15.6498	18.7115	0.91658	0.0:1.0:0.0:0.0	.	631;950;864;950	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	K	950;864;950;950	ENSP00000264184:E864K;ENSP00000355562:E950K;ENSP00000264183:E950K	ENSP00000264183:E950K	E	-	1	0	ARID4B	233412009	1.000000	0.71417	0.993000	0.49108	0.027000	0.11550	7.110000	0.77069	2.654000	0.90174	0.585000	0.79938	GAG		0.517	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3		NM_016374		14	59	0	0	0	0.004007	0	14	59		
LYST	1130	broad.mit.edu	37	1	235920623	235920623	+	Silent	SNP	G	G	A	rs201154390		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:235920623G>A	ENST00000389794.3	-	24	7191	c.7017C>T	c.(7015-7017)ctC>ctT	p.L2339L	LYST_ENST00000389793.2_Silent_p.L2339L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2339					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.L2339L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGTGGTTAACGAGGACCAAAA	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		16644	0.001		0.0	False		,,,				2504	0.0					uc001hxj.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(7015-7017)CTC>CTT		lysosomal trafficking regulator							107.0	98.0	101.0					1																	235920623		2203	4300	6503	SO:0001819	synonymous_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235920623G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7017C>T	1.37:g.235920623G>A							p.L2339L	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		24	7192	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2339					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.7017C>T	CCDS31062.1																																																																																				0.338	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				9	62	0	0	0	0.010729	0	9	62		
NID1	4811	broad.mit.edu	37	1	236212147	236212147	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:236212147C>T	ENST00000264187.6	-	2	450	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	NID1_ENST00000366595.3_Missense_Mutation_p.R123Q	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	123	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TAAGTCTTCTCGATAATAAAC	0.567																																						uc001hxo.2		NaN																	0				large_intestine(1)|pancreas(1)	2						c.(367-369)CGA>CAA		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						60.0	66.0	64.0					1																	236212147		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236212147C>T	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.368G>A	1.37:g.236212147C>T	ENSP00000264187:p.Arg123Gln					NID1_uc009xgd.2_Missense_Mutation_p.R123Q	p.R123Q	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		2	470	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	123			NIDO.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.368G>A	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623331	0.87460	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.90444	-1.93;-2.67	4.75	4.75	0.60458	Nidogen, extracellular domain (2);	0.000000	0.85682	D	0.000000	D	0.96024	0.8705	M	0.88979	2.995	0.49130	D	0.999757	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.96381	0.9281	10	0.56958	D	0.05	.	17.9258	0.88982	0.0:1.0:0.0:0.0	.	123;123	P14543-2;P14543	.;NID1_HUMAN	Q	123	ENSP00000264187:R123Q;ENSP00000355554:R123Q	ENSP00000264187:R123Q	R	-	2	0	NID1	234278770	1.000000	0.71417	0.987000	0.45799	0.563000	0.35712	6.933000	0.75874	2.459000	0.83118	0.655000	0.94253	CGA		0.567	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2		NM_002508		26	74	0	0	0	0.004656	0	26	74		
CEP170	9859	broad.mit.edu	37	1	243328189	243328189	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:243328189C>T	ENST00000366542.1	-	13	3124	c.3073G>A	c.(3073-3075)Gat>Aat	p.D1025N	RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366543.1_Missense_Mutation_p.D927N|CEP170_ENST00000366544.1_Missense_Mutation_p.D927N	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1025	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTTTGGTCATCATCTGTTAAG	0.423																																						uc001hzs.2		NaN																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(3073-3075)GAT>AAT		centrosomal protein 170kDa isoform alpha							108.0	99.0	102.0					1																	243328189		1880	4110	5990	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243328189C>T	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3073G>A	1.37:g.243328189C>T	ENSP00000355500:p.Asp1025Asn					CEP170_uc001hzt.2_Missense_Mutation_p.D927N|CEP170_uc001hzu.2_Missense_Mutation_p.D927N|CEP170_uc001hzv.1_Missense_Mutation_p.D403N	p.D1025N	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	3481	-	all_neural(11;0.101)	all_cancers(173;0.003)	1025			Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.3073G>A	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.59|18.59	3.657542|3.657542	0.67586|0.67586	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543|ENST00000336415	T;T;T|.	0.58940|.	0.45;0.41;0.3|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.049000|.	0.85682|.	D|.	0.000000|.	T|T	0.73598|0.73598	0.3607|0.3607	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.999;0.998;0.998;0.998|.	D;D;D;D|.	0.87578|.	0.998;0.991;0.991;0.993|.	T|T	0.72924|0.72924	-0.4144|-0.4144	10|5	0.44086|.	T|.	0.13|.	-14.6773|-14.6773	17.6292|17.6292	0.88102|0.88102	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	988;927;927;1025|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	N|I	1025;927;927|988	ENSP00000355500:D1025N;ENSP00000355502:D927N;ENSP00000355501:D927N|.	ENSP00000355500:D1025N|.	D|M	-|-	1|3	0|0	CEP170|CEP170	241394812|241394812	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.614000|0.614000	0.37383|0.37383	7.243000|7.243000	0.78219|0.78219	2.390000|2.390000	0.81377|0.81377	0.555000|0.555000	0.69702|0.69702	GAT|ATG		0.423	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2		NM_014812		8	41	0	0	0	0.006214	0	8	41		
DESI2	51029	broad.mit.edu	37	1	244868944	244868944	+	Silent	SNP	G	G	A	rs373367294		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:244868944G>A	ENST00000302550.11	+	5	817	c.438G>A	c.(436-438)ccG>ccA	p.P146P	DESI2_ENST00000263831.7_Silent_p.P113P	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	146	PPPDE peptidase.					cytoplasm (GO:0005737)	peptidase activity (GO:0008233)										GTTGCCTCCCGAAGGAGTGGC	0.537																																						uc001iao.2		NaN																	0				breast(3)	3						c.(436-438)CCG>CCA		PPPDE peptidase domain containing 1							98.0	103.0	102.0					1																	244868944		2203	4300	6503	SO:0001819	synonymous_variant	51029							g.chr1:244868944G>A	AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"""chromosome 1 open reading frame 121"", ""family with sequence similarity 152, member A"", ""PPPDE peptidase domain containing 1"""	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.438G>A	1.37:g.244868944G>A						PPPDE1_uc001iap.2_Silent_p.P113P|PPPDE1_uc001iaq.1_RNA	p.P146P	NM_016076	NP_057160	Q9BSY9	PPDE1_HUMAN			5	702	+			146			PPPDE peptidase.		B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Silent	SNP	ENST00000302550.11	37	c.438G>A	CCDS1626.1																																																																																				0.537	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097168.1		NM_016076		38	129	0	0	0	0.00361	0	38	129		
NLRP3	114548	broad.mit.edu	37	1	247587980	247587980	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:247587980C>T	ENST00000336119.3	+	3	1981	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.P412L|NLRP3_ENST00000366497.2_Missense_Mutation_p.P412L|NLRP3_ENST00000391827.2_Missense_Mutation_p.P412L|NLRP3_ENST00000348069.2_Missense_Mutation_p.P412L|NLRP3_ENST00000366496.2_Missense_Mutation_p.P412L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	412	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGCTTCATCCCCCTGGTCTGC	0.542																																						uc001icr.2		NaN																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1234-1236)CCC>CTC		NLR family, pyrin domain containing 3 isoform a							103.0	81.0	88.0					1																	247587980		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587980C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1235C>T	1.37:g.247587980C>T	ENSP00000337383:p.Pro412Leu					NLRP3_uc001ics.2_Missense_Mutation_p.P412L|NLRP3_uc001icu.2_Missense_Mutation_p.P412L|NLRP3_uc001icw.2_Missense_Mutation_p.P412L|NLRP3_uc001icv.2_Missense_Mutation_p.P412L|NLRP3_uc010pyw.1_Missense_Mutation_p.P410L|NLRP3_uc001ict.1_Missense_Mutation_p.P410L	p.P412L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1373	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	412			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1235C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211552	0.79240	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	4.17	4.17	0.49024	NACHT nucleoside triphosphatase (1);	0.000000	0.52532	D	0.000068	D	0.94218	0.8144	H	0.95850	3.73	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0	D	0.95010	0.8151	10	0.87932	D	0	.	12.2773	0.54744	0.0:1.0:0.0:0.0	.	412;412;412;412;412	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	L	412	ENSP00000375704:P412L;ENSP00000355453:P412L;ENSP00000337383:P412L;ENSP00000294752:P412L;ENSP00000355452:P412L;ENSP00000375703:P412L	ENSP00000337383:P412L	P	+	2	0	NLRP3	245654603	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	6.775000	0.75018	2.612000	0.88384	0.655000	0.94253	CCC		0.542	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1		NM_004895		5	91	0	0	0	0.001168	0	5	91		
SH3BP5L	80851	broad.mit.edu	37	1	249106422	249106422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:249106422G>A	ENST00000366472.5	-	7	2088	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R255W	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	287										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GAGGAGCGCCGAGGGCCCAGG	0.721																																						uc001iew.1		NaN																	0					0						c.(859-861)CGG>TGG		SH3-binding domain protein 5-like							16.0	18.0	18.0					1																	249106422		2199	4290	6489	SO:0001583	missense	80851							g.chr1:249106422G>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.859C>T	1.37:g.249106422G>A	ENSP00000355428:p.Arg287Trp					SH3BP5L_uc010pzp.1_Missense_Mutation_p.R180W|SH3BP5L_uc010pzq.1_Missense_Mutation_p.R255W|SH3BP5L_uc001iev.1_Missense_Mutation_p.R168W	p.R287W	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		7	1411	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	287					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	c.859C>T	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932050	0.34096	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	.	.	.	4.29	2.22	0.28083	.	0.063358	0.64402	D	0.000006	T	0.33876	0.0878	N	0.08118	0	0.28814	N	0.898045	D;D;D;D	0.76494	0.99;0.974;0.999;0.974	P;P;D;P	0.64410	0.568;0.568;0.925;0.568	T	0.20773	-1.0265	9	0.87932	D	0	-14.4037	10.8579	0.46810	0.0:0.0:0.6653:0.3347	.	255;180;287;145	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	W	287;255	.	ENSP00000355428:R287W	R	-	1	2	SH3BP5L	247073045	0.076000	0.21285	0.724000	0.30704	0.079000	0.17450	2.590000	0.46154	1.139000	0.42245	0.313000	0.20887	CGG		0.721	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1		NM_030645		5	39	0	0	0	0.00308	0	5	39		
GDI2	2665	broad.mit.edu	37	10	5810189	5810189	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:5810189G>C	ENST00000380191.4	-	8	1268	c.978C>G	c.(976-978)gtC>gtG	p.V326V	GDI2_ENST00000380132.4_Silent_p.V330V|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380181.3_Silent_p.V281V	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	326					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ACTTTCGATTGACTTGGTTCT	0.408																																						uc001iil.3		NaN																	0					0						c.(976-978)GTC>GTG		GDP dissociation inhibitor 2 isoform 1							135.0	130.0	132.0					10																	5810189		2203	4300	6503	SO:0001819	synonymous_variant	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5810189G>C	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.978C>G	10.37:g.5810189G>C						GDI2_uc001iim.3_Silent_p.V281V|GDI2_uc009xid.2_Silent_p.V330V	p.V326V	NM_001494	NP_001485	P50395	GDIB_HUMAN			8	1269	-			326					O43928|Q5SX88|Q9UQM6	Silent	SNP	ENST00000380191.4	37	c.978C>G	CCDS7071.1																																																																																				0.408	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1		NM_001494		17	89	0	0	0	0.012319	0	17	89		
NMT2	9397	broad.mit.edu	37	10	15175327	15175327	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:15175327C>G	ENST00000378165.4	-	4	507	c.427G>C	c.(427-429)Gat>Cat	p.D143H	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.D130H|NMT2_ENST00000540259.1_5'UTR|NMT2_ENST00000535341.1_Missense_Mutation_p.D130H	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	143					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.D143H(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTGTCTTTATCTGGTTCAATT	0.398																																					Melanoma(117;1345 1645 4130 12688 30625)	uc001inz.1		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(427-429)GAT>CAT		N-myristoyltransferase 2							168.0	163.0	165.0					10																	15175327		2203	4300	6503	SO:0001583	missense	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15175327C>G	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.427G>C	10.37:g.15175327C>G	ENSP00000367407:p.Asp143His					NMT2_uc001ioa.1_Missense_Mutation_p.D130H|NMT2_uc009xjo.1_Missense_Mutation_p.D143H|NMT2_uc010qbz.1_5'UTR	p.D143H	NM_004808	NP_004799	O60551	NMT2_HUMAN			4	511	-			143					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	c.427G>C	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200340	0.94997	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000535341	T	0.47177	0.85	5.81	5.81	0.92471	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.086043	0.85682	D	0.000000	T	0.73636	0.3612	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.71184	0.972;0.952;0.972	T	0.76399	-0.2973	10	0.66056	D	0.02	-30.0052	20.0726	0.97729	0.0:1.0:0.0:0.0	.	143;130;143	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	H	143;130;174;130	ENSP00000367407:D143H	ENSP00000367385:D174H	D	-	1	0	NMT2	15215333	1.000000	0.71417	0.510000	0.27712	0.957000	0.61999	7.818000	0.86416	2.738000	0.93877	0.655000	0.94253	GAT		0.398	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2		NM_004808		10	85	0	0	0	0.00245	0	10	85		
VIM	7431	broad.mit.edu	37	10	17276805	17276805	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:17276805C>T	ENST00000224237.5	+	5	1141	c.996C>T	c.(994-996)gcC>gcT	p.A332A	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Silent_p.A332A			P08670	VIME_HUMAN	vimentin	332	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGTGGATGCCCTTAAAGGAA	0.517																																						uc001iou.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(994-996)GCC>GCT		vimentin							66.0	59.0	62.0					10																	17276805		2203	4300	6503	SO:0001819	synonymous_variant	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17276805C>T	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.996C>T	10.37:g.17276805C>T						VIM_uc001iov.1_Silent_p.A332A|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.A332A|VIM_uc001ioy.1_Silent_p.A332A|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Silent_p.A332A	p.A332A	NM_003380	NP_003371	P08670	VIME_HUMAN			6	1409	+			332			Rod.|Coil 2.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	ENST00000224237.5	37	c.996C>T	CCDS7120.1																																																																																				0.517	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1		NM_003380		4	48	0	0	0	0.000602	0	4	48		
SKIDA1	387640	broad.mit.edu	37	10	21804708	21804708	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:21804708G>A	ENST00000449193.2	-	4	4296	c.2044C>T	c.(2044-2046)Ctg>Ttg	p.L682L	SKIDA1_ENST00000444772.3_Silent_p.L603L	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	601						nucleus (GO:0005634)											ATATTGTGCAGAAATGGCAAT	0.433																																						uc009xkd.2		NaN																	0				ovary(1)	1						c.(2044-2046)CTG>TTG		hypothetical protein LOC387640							70.0	72.0	71.0					10																	21804708		1936	4150	6086	SO:0001819	synonymous_variant	387640					nucleus	nucleotide binding	g.chr10:21804708G>A	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2044C>T	10.37:g.21804708G>A						uc001iqp.1_Intron	p.L682L	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	4297	-			601					B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	c.2044C>T	CCDS44363.1																																																																																				0.433	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2		NM_207371		6	48	0	0	0	0.001984	0	6	48		
ARMC3	219681	broad.mit.edu	37	10	23321936	23321936	+	Missense_Mutation	SNP	G	G	A	rs372574174		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:23321936G>A	ENST00000298032.5	+	18	2477	c.2393G>A	c.(2392-2394)cGa>cAa	p.R798Q	ARMC3_ENST00000376528.4_Missense_Mutation_p.R535Q|ARMC3_ENST00000409983.3_Missense_Mutation_p.R791Q	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	798						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCTACCATCGAGCTTTGCTT	0.363																																						uc001irm.3		NaN																	0					0						c.(2392-2394)CGA>CAA		armadillo repeat containing 3		G	GLN/ARG	0,4406		0,0,2203	118.0	112.0	114.0		2393	5.5	1.0	10		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARMC3	NM_173081.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	798/873	23321936	1,13005	2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23321936G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2393G>A	10.37:g.23321936G>A	ENSP00000298032:p.Arg798Gln					ARMC3_uc010qcv.1_Missense_Mutation_p.R791Q|ARMC3_uc010qcw.1_Missense_Mutation_p.R535Q	p.R798Q	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			18	2476	+			798					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.2393G>A	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962730	0.92791	0.0	1.16E-4	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	D;D;D	0.93547	-3.24;-3.19;-1.77	5.47	5.47	0.80525	.	0.277723	0.33364	N	0.004993	D	0.97748	0.9261	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98364	1.0550	10	0.87932	D	0	-15.7523	19.6916	0.96005	0.0:0.0:1.0:0.0	.	791;798	Q5W041-4;Q5W041	.;ARMC3_HUMAN	Q	798;791;535	ENSP00000298032:R798Q;ENSP00000386943:R791Q;ENSP00000365711:R535Q	ENSP00000298032:R798Q	R	+	2	0	ARMC3	23361942	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.217000	0.95160	2.722000	0.93159	0.555000	0.69702	CGA		0.363	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2		NM_173081		5	21	0	0	0	0.004482	0	5	21		
KIAA1462	57608	broad.mit.edu	37	10	30317490	30317490	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:30317490C>G	ENST00000375377.1	-	3	1688	c.1587G>C	c.(1585-1587)gtG>gtC	p.V529V		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	529					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGCTGCCTCTCACATCAGGCC	0.612																																						uc001iux.2		NaN																	0				ovary(4)	4						c.(1585-1587)GTG>GTC		hypothetical protein LOC57608							87.0	91.0	90.0					10																	30317490		2041	4192	6233	SO:0001819	synonymous_variant	57608							g.chr10:30317490C>G	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1587G>C	10.37:g.30317490C>G						KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.V391V|KIAA1462_uc009xle.1_Silent_p.V529V	p.V529V	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	1646	-			529					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.1587G>C	CCDS41500.1																																																																																				0.612	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1		NM_020848		32	217	0	0	0	0.00623	0	32	217		
LYZL2	119180	broad.mit.edu	37	10	30915075	30915075	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:30915075C>T	ENST00000375318.2	-	3	451	c.395G>A	c.(394-396)gGa>gAa	p.G132E		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	86					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CTTCAGCTTTCCGCGTCTGCA	0.572																																						uc001ivk.2		NaN																	0					0						c.(394-396)GGA>GAA		lysozyme-like 2							175.0	146.0	156.0					10																	30915075		2203	4300	6503	SO:0001583	missense	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30915075C>T	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.395G>A	10.37:g.30915075C>T	ENSP00000364467:p.Gly132Glu						p.G132E	NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN			3	408	-		Prostate(175;0.151)	86					Q6NZ69	Missense_Mutation	SNP	ENST00000375318.2	37	c.395G>A	CCDS7167.2	.	.	.	.	.	.	.	.	.	.	C	7.106	0.574993	0.13623	.	.	ENSG00000151033	ENST00000375318	T	0.76839	-1.05	2.04	-3.42	0.04825	.	1.743510	0.03458	N	0.211788	T	0.75012	0.3792	M	0.75777	2.31	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.58306	-0.7659	10	0.56958	D	0.05	-24.2749	6.7868	0.23677	0.0:0.5634:0.2623:0.1744	.	132	Q7Z4W2-2	.	E	132	ENSP00000364467:G132E	ENSP00000364467:G132E	G	-	2	0	LYZL2	30955081	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-3.317000	0.00514	-0.884000	0.03976	0.306000	0.20318	GGA		0.572	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1		NM_183058		17	139	0	0	0	0.012319	0	17	139		
PARD3	56288	broad.mit.edu	37	10	34420503	34420503	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:34420503G>C	ENST00000374789.3	-	23	3762	c.3437C>G	c.(3436-3438)tCa>tGa	p.S1146*	PARD3_ENST00000374790.3_Nonsense_Mutation_p.S1086*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.S1130*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.S1143*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.S1056*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.S1100*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.S1109*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.S1034*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1146					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCTAGGAGTTGATCTGTTACT	0.423																																						uc010qej.1		NaN																	0				ovary(1)	1						c.(3436-3438)TCA>TGA		partitioning-defective protein 3 homolog							168.0	145.0	153.0					10																	34420503		2203	4300	6503	SO:0001587	stop_gained	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34420503G>C	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3437C>G	10.37:g.34420503G>C	ENSP00000363921:p.Ser1146*					PARD3_uc010qek.1_Nonsense_Mutation_p.S1143*|PARD3_uc010qel.1_Nonsense_Mutation_p.S1109*|PARD3_uc010qem.1_Nonsense_Mutation_p.S1130*|PARD3_uc010qen.1_Nonsense_Mutation_p.S1100*|PARD3_uc010qeo.1_Nonsense_Mutation_p.S1063*|PARD3_uc010qep.1_Nonsense_Mutation_p.S1056*|PARD3_uc010qeq.1_Nonsense_Mutation_p.S1034*	p.S1146*	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			23	3437	-		Breast(68;0.0707)	1146					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Nonsense_Mutation	SNP	ENST00000374789.3	37	c.3437C>G	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	44	10.918232	0.99489	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	.	.	.	5.81	5.81	0.92471	.	0.302057	0.32935	N	0.005471	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	20.0812	0.97776	0.0:0.0:1.0:0.0	.	.	.	.	X	1130;1056;1146;1143;1109;1034;1100;1086	.	ENSP00000340591:S1109X	S	-	2	0	PARD3	34460509	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.847000	0.75404	2.752000	0.94435	0.557000	0.71058	TCA		0.423	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1		NM_019619		13	82	0	0	0	0.003163	0	13	82		
RBP3	5949	broad.mit.edu	37	10	48389979	48389979	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:48389979C>G	ENST00000224600.4	-	1	1012	c.899G>C	c.(898-900)gGg>gCg	p.G300A	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	300	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGCAGCACCCCGCTGCCCTC	0.677																																						uc001jez.2		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(898-900)GGG>GCG		retinol-binding protein 3 precursor	Vitamin A(DB00162)						22.0	23.0	23.0					10																	48389979		2199	4298	6497	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389979C>G	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.899G>C	10.37:g.48389979C>G	ENSP00000224600:p.Gly300Ala						p.G300A	NM_002900	NP_002891	P10745	RET3_HUMAN			1	1013	-			300			4 X approximate tandem repeats.|1.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.899G>C	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667951	0.88348	.	.	ENSG00000107618	ENST00000224600	D	0.90788	-2.73	5.43	5.43	0.79202	Interphotoreceptor retinol-binding (2);	0.057739	0.64402	D	0.000003	D	0.97059	0.9039	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98169	1.0451	10	0.87932	D	0	-33.4961	18.2231	0.89907	0.0:1.0:0.0:0.0	.	300	P10745	RET3_HUMAN	A	300	ENSP00000224600:G300A	ENSP00000224600:G300A	G	-	2	0	RBP3	48009985	1.000000	0.71417	0.870000	0.34147	0.972000	0.66771	7.202000	0.77856	2.571000	0.86741	0.561000	0.74099	GGG		0.677	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1		NM_002900		8	34	0	0	0	0.008291	0	8	34		
ERCC6	2074	broad.mit.edu	37	10	50740821	50740821	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:50740821C>T	ENST00000355832.5	-	2	268	c.190G>A	c.(190-192)Gca>Aca	p.A64T	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.A64T|PGBD3_ENST00000603152.1_Missense_Mutation_p.A64T|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.A64T	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	64					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTCGGAGCTGCTGATGCGCAC	0.607								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3		NaN																	0				lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(190-192)GCA>ACA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							120.0	103.0	109.0					10																	50740821		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50740821C>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.190G>A	10.37:g.50740821C>T	ENSP00000348089:p.Ala64Thr					PGBD3_uc009xoe.2_Missense_Mutation_p.A64T|PGBD3_uc001jhu.2_Missense_Mutation_p.A64T	p.A64T	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			2	344	-			64					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.190G>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855311	0.71719	.	.	ENSG00000225830;ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000462247;ENST00000515869;ENST00000447839	D;T;T;T	0.82984	-1.67;0.88;3.33;3.33	5.8	4.87	0.63330	.	.	.	.	.	T	0.71592	0.3358	N	0.22421	0.69	0.40987	D	0.984827	B;B	0.26744	0.158;0.003	B;B	0.20767	0.031;0.002	T	0.68957	-0.5272	9	0.41790	T	0.15	-1.6818	11.7674	0.51939	0.0:0.9146:0.0:0.0854	.	64;64	E7EV46;Q03468	.;ERCC6_HUMAN	T	64	ENSP00000348089:A64T;ENSP00000422827:A64T;ENSP00000423550:A64T;ENSP00000387966:A64T	ENSP00000348089:A64T	A	-	1	0	ERCC6;RP11-123B3.6	50410827	0.119000	0.22226	0.002000	0.10522	0.795000	0.44927	4.218000	0.58554	1.387000	0.46486	0.563000	0.77884	GCA		0.607	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1		NM_000124		24	76	0	0	0	0.003954	0	24	76		
ANK3	288	broad.mit.edu	37	10	61833285	61833285	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:61833285C>G	ENST00000280772.2	-	37	7545	c.7354G>C	c.(7354-7356)Gag>Cag	p.E2452Q	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2452					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGACAACTCATCGTCATGG	0.403																																						uc001jky.2		NaN																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(7354-7356)GAG>CAG		ankyrin 3 isoform 1							100.0	104.0	102.0					10																	61833285		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61833285C>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7354G>C	10.37:g.61833285C>G	ENSP00000280772:p.Glu2452Gln					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.E2452Q	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	7546	-			2452					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.7354G>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781164	0.70222	.	.	ENSG00000151150	ENST00000280772	T	0.70045	-0.45	5.69	5.69	0.88448	.	0.000000	0.42682	D	0.000676	T	0.74076	0.3669	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	P	0.55713	0.782	T	0.70193	-0.4939	10	0.32370	T	0.25	.	19.8006	0.96506	0.0:1.0:0.0:0.0	.	2452	Q12955	ANK3_HUMAN	Q	2452	ENSP00000280772:E2452Q	ENSP00000280772:E2452Q	E	-	1	0	ANK3	61503291	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.810000	0.86072	2.687000	0.91594	0.462000	0.41574	GAG		0.403	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987		8	39	0	0	0	0.00308	0	8	39		
NEUROG3	50674	broad.mit.edu	37	10	71332658	71332658	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:71332658C>T	ENST00000242462.4	-	2	171	c.142G>A	c.(142-144)Gag>Aag	p.E48K	RP11-343J3.2_ENST00000428753.1_RNA	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	48					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)	p.E48K(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TCTTCCGCCTCTGCGCAGTTC	0.721																																						uc001jpp.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(142-144)GAG>AAG		neurogenin 3							13.0	14.0	14.0					10																	71332658		2195	4292	6487	SO:0001583	missense	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332658C>T	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.142G>A	10.37:g.71332658C>T	ENSP00000242462:p.Glu48Lys						p.E48K	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN			2	300	-			48					Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	c.142G>A	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493247	0.44352	.	.	ENSG00000122859	ENST00000242462	D	0.94417	-3.42	4.69	3.77	0.43336	.	0.220878	0.23268	U	0.050053	D	0.89083	0.6614	L	0.27053	0.805	0.09310	N	1	P	0.35077	0.483	B	0.33339	0.162	T	0.80627	-0.1298	10	0.34782	T	0.22	-16.5028	12.9626	0.58466	0.0:0.6888:0.3112:0.0	.	48	Q9Y4Z2	NGN3_HUMAN	K	48	ENSP00000242462:E48K	ENSP00000242462:E48K	E	-	1	0	NEUROG3	71002664	0.002000	0.14202	0.024000	0.17045	0.098000	0.18820	1.086000	0.30853	1.145000	0.42336	0.655000	0.94253	GAG		0.721	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1		NM_020999		10	34	0	0	0	0.010729	0	10	34		
C10orf54	64115	broad.mit.edu	37	10	73521588	73521588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:73521588G>A	ENST00000394957.3	-	2	336	c.278C>T	c.(277-279)aCg>aTg	p.T93M	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.2_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	93	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTCCTGGAACGTGAGGTTGCG	0.652																																						uc001jsd.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(277-279)ACG>ATG		platelet receptor Gi24 precursor							105.0	105.0	105.0					10																	73521588		2203	4300	6503	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73521588G>A	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.278C>T	10.37:g.73521588G>A	ENSP00000378409:p.Thr93Met					CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Translation_Start_Site|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Missense_Mutation_p.T93M	p.T93M	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN			2	419	-			93			Ig-like.|Extracellular (Potential).		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.278C>T	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471933	0.84533	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.02763	4.17	5.75	4.84	0.62591	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.091416	0.85682	D	0.000000	T	0.12518	0.0304	L	0.59436	1.845	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.957	T	0.00512	-1.1696	10	0.87932	D	0	-10.3883	15.15	0.72689	0.0686:0.0:0.9314:0.0	.	89;93	Q2TA85;Q9H7M9	.;GI24_HUMAN	M	93;89	ENSP00000378409:T93M	ENSP00000263569:T89M	T	-	2	0	C10orf54	73191594	1.000000	0.71417	0.985000	0.45067	0.955000	0.61496	5.051000	0.64257	1.409000	0.46915	0.655000	0.94253	ACG		0.652	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1		NM_022153		20	64	0	0	0	0.012319	0	20	64		
KCNMA1	3778	broad.mit.edu	37	10	78708987	78708987	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:78708987G>C	ENST00000286628.8	-	22	2621	c.2622C>G	c.(2620-2622)ctC>ctG	p.L874L	RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372440.1_Silent_p.L816L|KCNMA1_ENST00000286627.5_Silent_p.L816L|KCNMA1_ENST00000372443.1_Silent_p.L816L|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404771.3_Silent_p.L874L|KCNMA1_ENST00000406533.3_Silent_p.L878L|KCNMA1_ENST00000354353.5_Silent_p.L877L|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404857.1_Silent_p.L857L|RP11-443A13.5_ENST00000426234.1_RNA|RP11-443A13.5_ENST00000608791.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	874					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CAATGTGCTTGAGCTCATGGT	0.527																																						uc001jxn.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(2620-2622)CTC>CTG		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						122.0	112.0	115.0					10																	78708987		2203	4300	6503	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78708987G>C	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2622C>G	10.37:g.78708987G>C						KCNMA1_uc001jxj.2_Silent_p.L820L|KCNMA1_uc001jxk.1_Silent_p.L492L|KCNMA1_uc009xrt.1_Silent_p.L665L|KCNMA1_uc001jxl.1_Silent_p.L499L|KCNMA1_uc001jxo.2_Silent_p.L857L|KCNMA1_uc001jxm.2_Silent_p.L816L|KCNMA1_uc001jxq.2_Silent_p.L819L	p.L874L	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		22	2799	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		874			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.2622C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.14|16.14	3.038474|3.038474	0.55003|0.55003	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	5.63|5.63	4.68|4.68	0.58851|0.58851	.|.	.|.	.|.	.|.	.|.	T|.	0.71204|.	0.3312|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69011|.	-0.5258|.	4|.	.|.	.|.	.|.	-13.2657|-13.2657	15.6931|15.6931	0.77469|0.77469	0.0:0.2434:0.7566:0.0|0.0:0.2434:0.7566:0.0	.|.	.|.	.|.	.|.	E|X	805;524|767	.|.	.|.	Q|S	-|-	1|2	0|0	KCNMA1|KCNMA1	78378993|78378993	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.379000|1.379000	0.34340|0.34340	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.527	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3		NM_002247		31	95	0	0	0	0.004289	0	31	95		
IFIT2	3433	broad.mit.edu	37	10	91066371	91066371	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:91066371C>T	ENST00000371826.3	+	2	827	c.658C>T	c.(658-660)Cat>Tat	p.H220Y	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	220					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TCTGAAGCTTCATAAGATGCG	0.502																																						uc009xts.2		NaN																	0				ovary(1)|skin(1)	2						c.(658-660)CAT>TAT		interferon-induced protein with							65.0	65.0	65.0					10																	91066371		1977	4174	6151	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066371C>T	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.658C>T	10.37:g.91066371C>T	ENSP00000360891:p.His220Tyr					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	p.H220Y	NM_001547	NP_001538	P09913	IFIT2_HUMAN			2	833	+		Colorectal(252;0.0161)	220					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.658C>T	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926423	0.34002	.	.	ENSG00000119922	ENST00000371826	T	0.36157	1.27	4.45	3.52	0.40303	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	1.648270	0.03465	U	0.212822	T	0.24547	0.0595	N	0.04508	-0.205	0.24449	N	0.994493	B	0.27656	0.184	B	0.25614	0.062	T	0.33828	-0.9853	10	0.72032	D	0.01	0.4584	12.8927	0.58080	0.0:0.674:0.326:0.0	.	220	P09913	IFIT2_HUMAN	Y	220	ENSP00000360891:H220Y	ENSP00000360891:H220Y	H	+	1	0	IFIT2	91056351	0.876000	0.30132	0.799000	0.32177	0.693000	0.40251	2.307000	0.43682	1.429000	0.47314	0.563000	0.77884	CAT		0.502	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1		NM_001547		4	39	0	0	0	0.001984	0	4	39		
CC2D2B	387707	broad.mit.edu	37	10	97772423	97772423	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:97772423C>G	ENST00000344386.3	+	4	419	c.255C>G	c.(253-255)atC>atG	p.I85M	CC2D2B_ENST00000371198.2_Intron|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.I85M|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	85										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CAAGATATATCAAGGCATTAA	0.299																																						uc001kll.2		NaN																	0				ovary(1)	1						c.(253-255)ATC>ATG		coiled-coil and C2 domain containing 2B isoform							95.0	93.0	94.0					10																	97772423		1847	4088	5935	SO:0001583	missense	387707							g.chr10:97772423C>G	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.255C>G	10.37:g.97772423C>G	ENSP00000343747:p.Ile85Met					uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Missense_Mutation_p.I85M	p.I85M	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	4	454	+		Colorectal(252;0.158)	85					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Missense_Mutation	SNP	ENST00000344386.3	37	c.255C>G	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.982400	0.53827	.	.	ENSG00000188649	ENST00000424464;ENST00000451649;ENST00000410012;ENST00000344386	D;D;T	0.85629	-2.01;-1.93;-1.25	5.19	4.29	0.51040	.	.	.	.	.	D	0.92034	0.7476	M	0.82323	2.585	0.24846	N	0.992432	D;D	0.76494	0.999;0.984	D;D	0.83275	0.996;0.939	D	0.84361	0.0538	9	0.72032	D	0.01	.	10.9834	0.47508	0.0:0.9115:0.0:0.0885	.	85;85	E9PCC3;Q6DHV5	.;C2D2B_HUMAN	M	146;85;85;85	ENSP00000391834:I146M;ENSP00000386988:I85M;ENSP00000343747:I85M	ENSP00000343747:I85M	I	+	3	3	CC2D2B	97762413	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.782000	0.26788	1.208000	0.43306	-0.236000	0.12185	ATC		0.299	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3		NM_001001732		9	26	0	0	0	0.008291	0	9	26		
TLL2	7093	broad.mit.edu	37	10	98205917	98205917	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:98205917C>G	ENST00000357947.3	-	3	520	c.295G>C	c.(295-297)Gaa>Caa	p.E99Q	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	99					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCCTGCTCTTCAAGCCCACCT	0.557																																						uc001kml.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(295-297)GAA>CAA		tolloid-like 2 precursor							188.0	160.0	169.0					10																	98205917		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98205917C>G	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.295G>C	10.37:g.98205917C>G	ENSP00000350630:p.Glu99Gln					TLL2_uc009xvf.1_Missense_Mutation_p.E99Q	p.E99Q	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	3	521	-		Colorectal(252;0.0846)	99					A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.295G>C	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	8.635	0.894682	0.17613	.	.	ENSG00000095587	ENST00000357947	T	0.14391	2.51	4.98	4.98	0.66077	.	1.036800	0.07770	N	0.951481	T	0.11067	0.0270	N	0.24115	0.695	0.26675	N	0.971658	B	0.27068	0.167	B	0.20184	0.028	T	0.15925	-1.0420	10	0.16896	T	0.51	.	14.1085	0.65107	0.0:1.0:0.0:0.0	.	99	Q9Y6L7	TLL2_HUMAN	Q	99	ENSP00000350630:E99Q	ENSP00000350630:E99Q	E	-	1	0	TLL2	98195907	0.744000	0.28250	0.927000	0.36925	0.605000	0.37080	1.552000	0.36244	2.476000	0.83614	0.555000	0.69702	GAA		0.557	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1				29	92	0	0	0	0.007291	0	29	92		
PI4K2A	55361	broad.mit.edu	37	10	99416092	99416092	+	Silent	SNP	G	G	A	rs371833877		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:99416092G>A	ENST00000370631.3	+	3	744	c.687G>A	c.(685-687)gtG>gtA	p.V229V	PI4K2A_ENST00000555577.1_Silent_p.V199V|PI4K2A_ENST00000370649.3_Silent_p.V199V	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	229	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TTGACCGAGTGAAGTCCAGGG	0.493																																						uc001kog.1		NaN																	0				lung(1)|skin(1)	2						c.(685-687)GTG>GTA		phosphatidylinositol 4-kinase type 2 alpha							87.0	81.0	83.0					10																	99416092		2203	4300	6503	SO:0001819	synonymous_variant	55361				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99416092G>A	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.687G>A	10.37:g.99416092G>A						PI4K2A_uc010qoy.1_Silent_p.V199V|PI4K2A_uc009xvw.1_5'UTR	p.V229V	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	3	744	+		Colorectal(252;0.162)	229			PI3K/PI4K.		D3DR59|Q9NSG8	Silent	SNP	ENST00000370631.3	37	c.687G>A	CCDS7469.1																																																																																				0.493	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1		NM_018425		13	74	0	0	0	0.003163	0	13	74		
PYROXD2	84795	broad.mit.edu	37	10	100174797	100174797	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:100174797C>T	ENST00000370575.4	-	1	144	c.96G>A	c.(94-96)aaG>aaA	p.K32K	HPS1_ENST00000467246.1_5'Flank	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	32							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CATACTCAGGCTTCAGACCTC	0.617																																						uc001kpc.2		NaN																	0				central_nervous_system(1)	1						c.(94-96)AAG>AAA		pyridine nucleotide-disulphide oxidoreductase							189.0	177.0	181.0					10																	100174797		2203	4300	6503	SO:0001819	synonymous_variant	84795						oxidoreductase activity	g.chr10:100174797C>T	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.96G>A	10.37:g.100174797C>T						PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Silent_p.K32K	p.K32K	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN			1	182	-			32					D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	37	c.96G>A	CCDS7474.1																																																																																				0.617	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2		NM_032709		67	249	0	0	0	0.00361	0	67	249		
ENTPD7	57089	broad.mit.edu	37	10	101464399	101464399	+	Missense_Mutation	SNP	G	G	A	rs200840103		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:101464399G>A	ENST00000370489.4	+	13	1952	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	592						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GCTGTGGCTTGAAGAGGTGGT	0.572																																						uc001kqa.3		NaN																	0				ovary(1)	1						c.(1774-1776)GAA>AAA		ectonucleoside triphosphate diphosphohydrolase							65.0	55.0	58.0					10																	101464399		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101464399G>A	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1774G>A	10.37:g.101464399G>A	ENSP00000359520:p.Glu592Lys					ENTPD7_uc009xwl.2_Missense_Mutation_p.E594K	p.E592K	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	13	1952	+		Colorectal(252;0.234)	592			Cytoplasmic (Potential).		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.1774G>A	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625597	0.87560	.	.	ENSG00000198018	ENST00000370489	T	0.16597	2.33	4.89	3.99	0.46301	.	0.059422	0.64402	D	0.000004	T	0.23766	0.0575	M	0.64404	1.975	0.80722	D	1	P	0.47762	0.9	P	0.45794	0.493	T	0.02736	-1.1117	10	0.48119	T	0.1	-31.3635	13.2071	0.59803	0.0768:0.0:0.9232:0.0	.	592	Q9NQZ7	ENTP7_HUMAN	K	592	ENSP00000359520:E592K	ENSP00000359520:E592K	E	+	1	0	ENTPD7	101454389	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.341000	0.72977	1.311000	0.45024	0.555000	0.69702	GAA		0.572	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2		NM_020354		12	20	0	0	0	0.003163	0	12	20		
PKD2L1	9033	broad.mit.edu	37	10	102058407	102058407	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:102058407C>G	ENST00000318222.3	-	4	1025	c.643G>C	c.(643-645)Gac>Cac	p.D215H	PKD2L1_ENST00000353274.3_Missense_Mutation_p.D215H|PKD2L1_ENST00000338519.3_Missense_Mutation_p.D215H	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	215					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCCGGAAGTCTTCATGCACC	0.542																																						uc001kqx.1		NaN																	0				ovary(4)	4						c.(643-645)GAC>CAC		polycystic kidney disease 2-like 1							114.0	105.0	108.0					10																	102058407		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102058407C>G	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.643G>C	10.37:g.102058407C>G	ENSP00000325296:p.Asp215His					PKD2L1_uc009xwm.1_Missense_Mutation_p.D168H	p.D215H	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	4	1026	-		Colorectal(252;0.117)	215			Extracellular (Potential).		O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.643G>C	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876666	0.91664	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.71222	-0.55;-0.55;-0.55	5.32	5.32	0.75619	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.83755	0.5323	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.985	D	0.85029	0.0916	10	0.62326	D	0.03	-26.1961	17.9939	0.89177	0.0:1.0:0.0:0.0	.	168;215	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	H	215	ENSP00000345068:D215H;ENSP00000266049:D215H;ENSP00000325296:D215H	ENSP00000325296:D215H	D	-	1	0	PKD2L1	102048397	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.963000	0.63694	2.490000	0.84030	0.561000	0.74099	GAC		0.542	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2		NM_016112		53	117	0	0	0	0.00361	0	53	117		
CNNM2	54805	broad.mit.edu	37	10	104678579	104678579	+	Silent	SNP	G	G	A	rs375416482	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:104678579G>A	ENST00000369878.4	+	1	530	c.342G>A	c.(340-342)acG>acA	p.T114T	CNNM2_ENST00000369875.3_Silent_p.T114T|CNNM2_ENST00000433628.2_Silent_p.T114T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	114					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ATAACGAGACGTGGTCCCGCA	0.721																																						uc001kwm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(340-342)ACG>ACA		cyclin M2 isoform 1							24.0	22.0	23.0					10																	104678579		2191	4296	6487	SO:0001819	synonymous_variant	54805				ion transport	integral to membrane		g.chr10:104678579G>A	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.342G>A	10.37:g.104678579G>A						CNNM2_uc001kwn.2_Silent_p.T114T|CNNM2_uc001kwl.2_Silent_p.T114T	p.T114T	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	466	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	114					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	37	c.342G>A	CCDS44474.1																																																																																				0.721	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3		NM_017649		10	32	0	0	0	0.001855	0	10	32		
PDCD11	22984	broad.mit.edu	37	10	105179396	105179396	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:105179396G>A	ENST00000369797.3	+	16	2302	c.2208G>A	c.(2206-2208)gtG>gtA	p.V736V		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	736	S1 motif 8. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGGTTTTGTGAAGAGCATCA	0.498																																						uc001kwy.1		NaN																	0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(2206-2208)GTG>GTA		programmed cell death 11							161.0	141.0	148.0					10																	105179396		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105179396G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2208G>A	10.37:g.105179396G>A							p.V736V	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	16	2295	+		Colorectal(252;0.0747)|Breast(234;0.128)	736			S1 motif 8.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.2208G>A	CCDS31276.1																																																																																				0.498	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1				19	73	0	0	0	0.002299	0	19	73		
CALHM2	51063	broad.mit.edu	37	10	105207266	105207266	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:105207266G>C	ENST00000260743.5	-	4	1138	c.615C>G	c.(613-615)ctC>ctG	p.L205L	CALHM2_ENST00000494180.1_5'Flank|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Silent_p.L205L	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	205					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						AGTAATGCTTGAGGCACTTGG	0.617																																						uc001kwz.2		NaN																	0				skin(1)	1						c.(613-615)CTC>CTG		calcium homeostasis modulator 2							44.0	43.0	44.0					10																	105207266		2203	4300	6503	SO:0001819	synonymous_variant	51063					integral to membrane		g.chr10:105207266G>C	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.615C>G	10.37:g.105207266G>C						CALHM2_uc001kxa.2_Silent_p.L205L|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Silent_p.L205L	p.L205L	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN			3	1001	-			205			Helical; (Potential).		D3DR94|O95893|Q6ZUV9	Silent	SNP	ENST00000260743.5	37	c.615C>G	CCDS7549.1																																																																																				0.617	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1		NM_015916		18	52	0	0	0	0.008871	0	18	52		
CFAP43	80217	broad.mit.edu	37	10	105942240	105942240	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:105942240G>C	ENST00000278064.2	-	17	2291	c.1966C>G	c.(1966-1968)Ctg>Gtg	p.L656V	WDR96_ENST00000357060.3_Missense_Mutation_p.L725V|WDR96_ENST00000428666.1_Missense_Mutation_p.L726V																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAATAGTCCAGAATTTCACTG	0.348																																						uc001kxw.2		NaN																	0					0						c.(2173-2175)CTG>GTG		hypothetical protein LOC80217							119.0	111.0	113.0					10																	105942240		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105942240G>C																												ENST00000278064.2:c.1966C>G	10.37:g.105942240G>C	ENSP00000278064:p.Leu656Val					C10orf79_uc009xxq.2_Missense_Mutation_p.L33V|C10orf79_uc001kxx.3_Missense_Mutation_p.L726V	p.L725V	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	17	2289	-		Colorectal(252;0.178)	725						Missense_Mutation	SNP	ENST00000278064.2	37	c.2173C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.104|0.104	-1.147957|-1.147957	0.01714|0.01714	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000434629|ENST00000357060;ENST00000428666;ENST00000278064	.|T;T;T	.|0.14766	.|2.49;2.48;2.51	4.95|4.95	-8.18|-8.18	0.01053|0.01053	.|.	.|1.727610	.|0.02871	.|N	.|0.131524	T|T	0.07098|0.07098	0.0180|0.0180	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.16802	.|0.007;0.019;0.013	.|B;B;B	.|0.15484	.|0.005;0.013;0.013	T|T	0.32241|0.32241	-0.9914|-0.9914	5|10	.|0.15066	.|T	.|0.55	.|.	1.276|1.276	0.02030|0.02030	0.2652:0.1038:0.1653:0.4657|0.2652:0.1038:0.1653:0.4657	.|.	.|726;726;725	.|G5E9L1;B4DHB6;Q8NDM7	.|.;.;WDR96_HUMAN	L|V	85|725;726;656	.|ENSP00000349568:L725V;ENSP00000400289:L726V;ENSP00000278064:L656V	.|ENSP00000278064:L656V	F|L	-|-	3|1	2|2	WDR96|WDR96	105932230|105932230	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.023000|0.023000	0.10783|0.10783	-0.819000|-0.819000	0.04462|0.04462	-0.902000|-0.902000	0.03886|0.03886	-0.262000|-0.262000	0.10625|0.10625	TTC|CTG		0.348	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1				7	38	0	0	0	0.00308	0	7	38		
PDZD8	118987	broad.mit.edu	37	10	119044035	119044035	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:119044035C>T	ENST00000334464.5	-	5	2448	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	737					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GCCACATCTTCAAGTTTTAAA	0.453																																						uc001lde.1		NaN																	0					0						c.(2209-2211)GAA>AAA		PDZ domain containing 8							126.0	113.0	117.0					10																	119044035		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119044035C>T	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2209G>A	10.37:g.119044035C>T	ENSP00000334642:p.Glu737Lys						p.E737K	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2408	-		Colorectal(252;0.19)	737					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.2209G>A	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549578	0.65311	.	.	ENSG00000165650	ENST00000334464	D	0.85955	-2.05	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.88811	0.6538	L	0.34521	1.04	0.52099	D	0.999944	D	0.76494	0.999	D	0.65987	0.94	D	0.88136	0.2841	10	0.49607	T	0.09	-20.1835	20.4116	0.99017	0.0:1.0:0.0:0.0	.	737	Q8NEN9	PDZD8_HUMAN	K	737	ENSP00000334642:E737K	ENSP00000334642:E737K	E	-	1	0	PDZD8	119034025	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.089000	0.71384	2.827000	0.97445	0.655000	0.94253	GAA		0.453	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1		NM_173791		9	30	0	0	0	0.004482	0	9	30		
FAM175B	23172	broad.mit.edu	37	10	126523473	126523473	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:126523473C>T	ENST00000298492.5	+	9	1226	c.1181C>T	c.(1180-1182)tCa>tTa	p.S394L		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	394					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						TACTCACATTCAAAGGATTCT	0.463																																						uc001lib.3		NaN																	0					0						c.(1180-1182)TCA>TTA		hypothetical protein LOC23172							52.0	52.0	52.0					10																	126523473		2203	4300	6503	SO:0001583	missense	23172					BRISC complex	polyubiquitin binding	g.chr10:126523473C>T	D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.1181C>T	10.37:g.126523473C>T	ENSP00000298492:p.Ser394Leu						p.S394L	NM_032182	NP_115558	Q15018	F175B_HUMAN			9	1226	+			394					B4DKR2|Q96H11	Missense_Mutation	SNP	ENST00000298492.5	37	c.1181C>T	CCDS31308.2	.	.	.	.	.	.	.	.	.	.	C	7.944	0.743317	0.15642	.	.	ENSG00000165660	ENST00000298492	T	0.47177	0.85	6.17	4.34	0.51931	.	1.071810	0.07265	N	0.868140	T	0.36717	0.0977	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32534	-0.9903	10	0.72032	D	0.01	-45.1488	10.0431	0.42171	0.0:0.7975:0.0:0.2025	.	394	Q15018	F175B_HUMAN	L	394	ENSP00000298492:S394L	ENSP00000298492:S394L	S	+	2	0	FAM175B	126513463	0.080000	0.21391	0.002000	0.10522	0.148000	0.21650	2.691000	0.47010	0.944000	0.37579	0.655000	0.94253	TCA		0.463	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2		NM_032182		14	47	0	0	0	0.00499	0	14	47		
RIC8A	60626	broad.mit.edu	37	11	209946	209946	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:209946C>T	ENST00000526104.1	+	3	2016	c.672C>T	c.(670-672)atC>atT	p.I224I	BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000486280.1_5'Flank|RIC8A_ENST00000325207.5_Silent_p.I224I|BET1L_ENST00000529614.2_5'Flank|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000410108.1_5'Flank|RIC8A_ENST00000527696.1_Silent_p.I218I|BET1L_ENST00000325147.9_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	224					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCATGGAGATCCTCAAAGTGC	0.577																																						uc001log.2		NaN																	0					0						c.(670-672)ATC>ATT		resistance to inhibitors of cholinesterase 8							50.0	48.0	49.0					11																	209946		2203	4300	6503	SO:0001819	synonymous_variant	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:209946C>T	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.672C>T	11.37:g.209946C>T						BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Silent_p.I224I|RIC8A_uc001loh.2_Silent_p.I217I	p.I224I	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	997	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	224					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Silent	SNP	ENST00000526104.1	37	c.672C>T		.	.	.	.	.	.	.	.	.	.	C	11.57	1.679430	0.29783	.	.	ENSG00000177963	ENST00000527728	.	.	.	4.28	3.36	0.38483	.	.	.	.	.	T	0.61961	0.2389	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59643	-0.7416	4	.	.	.	-27.3346	11.4607	0.50208	0.0:0.91:0.0:0.09	.	.	.	.	F	106	.	.	S	+	2	0	RIC8A	199946	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.516000	0.22817	1.096000	0.41439	0.561000	0.74099	TCC		0.577	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1		NM_021932		11	72	0	0	0	0.010729	0	11	72		
MUC5AC	4586	broad.mit.edu	37	11	1159327	1159327	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:1159327C>T	ENST00000356191.2	+	16	1295	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	435				D -> G (in Ref. 2; AAC15950). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGTACCTGCTCTGTGCTTGGA	0.637																																						uc009ycr.1		NaN																	0					0						c.(1303-1305)TCT>TTT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							82.0	84.0	83.0					11																	1159327		875	1990	2865	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1159327C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.1295C>T	11.37:g.1159327C>T	ENSP00000348519:p.Ser432Phe						p.S435F	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	12	1430	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	426			VWFD 2.		O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.1304C>T		.	.	.	.	.	.	.	.	.	.	c	16.34	3.095868	0.56075	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.62232	0.04;0.04	3.85	3.85	0.44370	.	.	.	.	.	T	0.81437	0.4822	M	0.89968	3.075	.	.	.	D	0.89917	1.0	D	0.91635	0.999	D	0.87554	0.2467	8	0.59425	D	0.04	.	13.1413	0.59436	0.0:0.8253:0.1747:0.0	.	435	A7Y9J9	.	F	435;432	ENSP00000435591:S435F;ENSP00000348519:S432F	ENSP00000348519:S432F	S	+	2	0	MUC5AC	1149327	0.009000	0.17119	0.878000	0.34440	0.523000	0.34469	1.816000	0.38992	1.863000	0.54032	0.546000	0.68486	TCT		0.637	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_001130382		19	105	0	0	0	0.010504	0	19	105		
MUC5B	727897	broad.mit.edu	37	11	1272547	1272547	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:1272547C>T	ENST00000529681.1	+	31	14495	c.14437C>T	c.(14437-14439)Ctg>Ttg	p.L4813L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.L4816L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4813	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCTCCACTCTGGGGACGAC	0.627																																						uc009ycr.1		NaN																	0					0						c.(15403-15405)CTG>TTG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							129.0	158.0	148.0					11																	1272547		2172	4251	6423	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272547C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14437C>T	11.37:g.1272547C>T						MUC5B_uc001ltb.2_Silent_p.L4816L	p.L5135L	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	52	15529	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4758			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.15403C>T	CCDS44515.2																																																																																				0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2		XM_001126093		20	130	0	0	0	0.002299	0	20	130		
TOLLIP	54472	broad.mit.edu	37	11	1298324	1298324	+	Missense_Mutation	SNP	C	C	T	rs528881976		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:1298324C>T	ENST00000317204.6	-	6	893	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	TOLLIP_ENST00000542915.1_Missense_Mutation_p.R207Q|TOLLIP_ENST00000525159.1_Missense_Mutation_p.R196Q|TOLLIP_ENST00000263646.7_Missense_Mutation_p.R229Q|TOLLIP_ENST00000527886.1_Missense_Mutation_p.R188Q|TOLLIP_ENST00000527938.1_3'UTR	NM_019009.3	NP_061882.2	Q9H0E2	TOLIP_HUMAN	toll interacting protein	257	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte activation (GO:0045321)|phosphorylation (GO:0016310)|positive regulation of protein sumoylation (GO:0033235)|protein localization to endosome (GO:0036010)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|interleukin-1 receptor complex (GO:0045323)|interleukin-18 receptor complex (GO:0045092)|nuclear body (GO:0016604)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|signal transducer activity (GO:0004871)|Toll-like receptor binding (GO:0035325)			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		CTTGTTCCCTCGCTGGGCTTC	0.627																																						uc001lte.2		NaN																	0					0						c.(769-771)CGA>CAA		toll interacting protein							118.0	110.0	113.0					11																	1298324		2202	4299	6501	SO:0001583	missense	54472				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding	g.chr11:1298324C>T	AJ242972	CCDS7723.1	11p	2008-02-05			ENSG00000078902	ENSG00000078902			16476	protein-coding gene	gene with protein product		606277				9426216, 10854325	Standard	NM_019009		Approved	IL-1RAcPIP	uc001lte.3	Q9H0E2	OTTHUMG00000133333	ENST00000317204.6:c.770G>A	11.37:g.1298324C>T	ENSP00000314733:p.Arg257Gln					TOLLIP_uc001ltd.2_Missense_Mutation_p.R188Q|TOLLIP_uc009ycu.2_Missense_Mutation_p.R196Q|TOLLIP_uc001ltf.2_Missense_Mutation_p.R207Q	p.R257Q	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)	6	881	-		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	257			CUE.		B3KXC6|Q9H9E6|Q9UJ69	Missense_Mutation	SNP	ENST00000317204.6	37	c.770G>A	CCDS7723.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262053	0.39995	.	.	ENSG00000078902	ENST00000317204;ENST00000527886;ENST00000525159;ENST00000263646;ENST00000542915;ENST00000382211	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.54	2.68	0.31781	Ubiquitin system component Cue (3);UBA-like (1);	1.232380	0.05762	N	0.604987	T	0.25494	0.0620	N	0.20530	0.585	0.32403	N	0.551738	P;B;B	0.46277	0.875;0.175;0.045	B;B;B	0.33960	0.173;0.013;0.011	T	0.24119	-1.0169	10	0.22109	T	0.4	-3.0795	10.2991	0.43642	0.0:0.841:0.0:0.159	.	196;207;257	F2Z2Y8;B3KR28;Q9H0E2	.;.;TOLIP_HUMAN	Q	257;188;196;229;207;288	ENSP00000314733:R257Q;ENSP00000434035:R188Q;ENSP00000432668:R196Q;ENSP00000263646:R229Q;ENSP00000437404:R207Q	ENSP00000263646:R229Q	R	-	2	0	TOLLIP	1254900	0.992000	0.36948	0.011000	0.14972	0.834000	0.47266	3.271000	0.51608	0.551000	0.29008	0.555000	0.69702	CGA		0.627	TOLLIP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257162.2		NM_019009		24	163	0	0	0	0.009535	0	24	163		
SYT9	143425	broad.mit.edu	37	11	7334658	7334658	+	Missense_Mutation	SNP	C	C	T	rs377386547		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:7334658C>T	ENST00000318881.6	+	3	767	c.530C>T	c.(529-531)tCa>tTa	p.S177L	SYT9_ENST00000396716.2_Missense_Mutation_p.S145L	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	177					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTCAACTTGTCAAACCCGGAC	0.378																																						uc001mfe.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(529-531)TCA>TTA		synaptotagmin IX		C	LEU/SER	0,4402		0,0,2201	52.0	50.0	51.0		530	5.8	1.0	11		51	1,8591	1.2+/-3.3	0,1,4295	no	missense	SYT9	NM_175733.3	145	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	177/492	7334658	1,12993	2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334658C>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.530C>T	11.37:g.7334658C>T	ENSP00000324419:p.Ser177Leu					SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	p.S177L	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	767	+			177			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000318881.6	37	c.530C>T	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722806	0.89298	0.0	1.16E-4	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.58210	0.35;0.45	5.85	5.85	0.93711	.	0.000000	0.56097	D	0.000023	T	0.57799	0.2078	M	0.70595	2.14	0.80722	D	1	B	0.33512	0.415	B	0.35899	0.213	T	0.59484	-0.7446	10	0.59425	D	0.04	.	18.0311	0.89285	0.0:1.0:0.0:0.0	.	177	Q86SS6	SYT9_HUMAN	L	145;177	ENSP00000379944:S145L;ENSP00000324419:S177L	ENSP00000324419:S177L	S	+	2	0	SYT9	7291234	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.769000	0.85360	2.932000	0.99384	0.643000	0.83706	TCA		0.378	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1		NM_175733		3	33	0	0	0	0.000602	0	3	33		
PPFIBP2	8495	broad.mit.edu	37	11	7647116	7647116	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:7647116G>C	ENST00000299492.4	+	8	1208	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.E131Q|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.E162Q|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.E116Q	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	274					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GAGTCACACAGAGAGAGGTGA	0.507																																						uc001mfj.3		NaN																	0				ovary(2)|breast(2)	4						c.(820-822)GAG>CAG		PTPRF interacting protein, binding protein 2							48.0	45.0	46.0					11																	7647116		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7647116G>C	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.820G>C	11.37:g.7647116G>C	ENSP00000299492:p.Glu274Gln					PPFIBP2_uc010rbb.1_Missense_Mutation_p.E197Q|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.E197Q|PPFIBP2_uc010rbd.1_Missense_Mutation_p.E116Q|PPFIBP2_uc010rbe.1_Missense_Mutation_p.E162Q|PPFIBP2_uc001mfl.3_Missense_Mutation_p.E131Q	p.E274Q	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	8	1208	+			274			Potential.		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.820G>C	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119348	0.56505	.	.	ENSG00000166387	ENST00000299492;ENST00000529575;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	6.15	6.15	0.99193	.	0.338779	0.29410	N	0.012222	T	0.67183	0.2866	M	0.71581	2.175	0.28699	N	0.904176	B;B;P;B;B	0.36249	0.068;0.011;0.545;0.011;0.086	B;B;B;B;B	0.36289	0.059;0.008;0.221;0.008;0.069	T	0.65821	-0.6075	10	0.33940	T	0.23	-5.4807	16.3388	0.83075	0.0:0.0:1.0:0.0	.	162;162;197;131;274	E9PK77;B7Z433;F5GWB0;E9PMU1;Q8ND30	.;.;.;.;LIPB2_HUMAN	Q	274;116;116;116;197;162;131	ENSP00000299492:E274Q;ENSP00000436498:E116Q;ENSP00000435469:E162Q;ENSP00000437321:E131Q	ENSP00000299492:E274Q	E	+	1	0	PPFIBP2	7603692	1.000000	0.71417	0.322000	0.25334	0.090000	0.18270	6.420000	0.73349	2.932000	0.99384	0.643000	0.83706	GAG		0.507	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2		NM_003621		3	38	0	0	0	0.009096	0	3	38		
NLRP10	338322	broad.mit.edu	37	11	7982410	7982410	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:7982410C>T	ENST00000328600.2	-	2	910	c.749G>A	c.(748-750)gGc>gAc	p.G250D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	250	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCATCAAAGCCATCCAGGAT	0.527																																						uc001mfv.1		NaN																	0				lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(748-750)GGC>GAC		NLR family, pyrin domain containing 10							49.0	50.0	49.0					11																	7982410		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982410C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.749G>A	11.37:g.7982410C>T	ENSP00000327763:p.Gly250Asp						p.G250D	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	766	-			250			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.749G>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942614	0.53079	.	.	ENSG00000182261	ENST00000328600	T	0.73789	-0.78	5.25	4.33	0.51752	NACHT nucleoside triphosphatase (1);	0.000000	0.41605	D	0.000853	T	0.81992	0.4940	L	0.60012	1.86	0.43545	D	0.995847	D	0.69078	0.997	D	0.75484	0.986	T	0.83066	-0.0145	10	0.87932	D	0	.	10.5167	0.44894	0.0:0.9089:0.0:0.0911	.	250	Q86W26	NAL10_HUMAN	D	250	ENSP00000327763:G250D	ENSP00000327763:G250D	G	-	2	0	NLRP10	7938986	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	3.203000	0.51075	1.357000	0.45904	0.655000	0.94253	GGC		0.527	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1		NM_176821		4	51	0	0	0	0.001168	0	4	51		
SCUBE2	57758	broad.mit.edu	37	11	9051467	9051467	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:9051467C>T	ENST00000309263.3	-	18	2452	c.2380G>A	c.(2380-2382)Gac>Aac	p.D794N	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.D766N|SCUBE2_ENST00000457346.2_Missense_Mutation_p.D823N|SCUBE2_ENST00000450649.2_Missense_Mutation_p.D668N			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	794						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CCATCAAAGTCAGTCGTAGTA	0.448																																						uc001mhh.1		NaN																	0				ovary(1)|skin(1)	2						c.(2380-2382)GAC>AAC		CEGP1 protein precursor							209.0	204.0	206.0					11																	9051467		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9051467C>T	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2380G>A	11.37:g.9051467C>T	ENSP00000310658:p.Asp794Asn					SCUBE2_uc001mhi.1_Missense_Mutation_p.D766N|SCUBE2_uc001mhj.1_Missense_Mutation_p.D668N	p.D794N	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	18	2460	-			794					Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.2380G>A		.	.	.	.	.	.	.	.	.	.	C	14.40	2.524762	0.44969	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.19	5.19	0.71726	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	M	0.83312	2.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.54629	-0.8265	10	0.87932	D	0	.	18.7036	0.91630	0.0:1.0:0.0:0.0	.	668;766;794	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	N	823;794;668;766	ENSP00000390481:D823N;ENSP00000310658:D794N;ENSP00000415187:D668N;ENSP00000429969:D766N	ENSP00000310658:D794N	D	-	1	0	SCUBE2	9008043	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.726000	0.84824	2.415000	0.81967	0.491000	0.48974	GAC		0.448	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2		NM_020974		22	156	0	0	0	0.00632	0	22	156		
AMPD3	272	broad.mit.edu	37	11	10500089	10500089	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:10500089A>G	ENST00000396554.3	+	3	606	c.265A>G	c.(265-267)Atg>Gtg	p.M89V	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	80					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AAGTTTCAAGATGATTCGGTC	0.532																																						uc001mio.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(238-240)ATG>GTG		adenosine monophosphate deaminase 3 isoform 1B							156.0	185.0	175.0					11																	10500089		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10500089A>G	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.265A>G	11.37:g.10500089A>G	ENSP00000379802:p.Met89Val					AMPD3_uc010rbz.1_Intron|AMPD3_uc001min.1_Missense_Mutation_p.M89V|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.M80V|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.M87V|AMPD3_uc009yfy.2_Missense_Mutation_p.M80V	p.M80V	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	3	573	+			80					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.238A>G	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894641	0.33442	.	.	ENSG00000133805	ENST00000532250;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.6	5.6	0.85130	.	0.070926	0.85682	D	0.000000	T	0.43964	0.1271	L	0.53249	1.67	0.80722	D	1	B;B;B	0.17465	0.022;0.013;0.022	B;B;B	0.16722	0.016;0.01;0.016	T	0.33420	-0.9869	10	0.15952	T	0.53	-30.2877	15.7767	0.78228	1.0:0.0:0.0:0.0	.	87;80;89	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	V	80;89;80;80;87;80	ENSP00000432707:M80V;ENSP00000379802:M89V;ENSP00000433284:M80V;ENSP00000379801:M80V;ENSP00000436987:M87V;ENSP00000431648:M80V	ENSP00000379801:M80V	M	+	1	0	AMPD3	10456665	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.427000	0.59888	2.131000	0.65755	0.523000	0.50628	ATG		0.532	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2		NM_000480		88	232	0	0	0	0.00361	0	88	232		
EIF4G2	1982	broad.mit.edu	37	11	10823911	10823911	+	Silent	SNP	G	G	A	rs142114099		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:10823911G>A	ENST00000526148.1	-	12	1578	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Silent_p.F356F|EIF4G2_ENST00000525995.1_5'Flank|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.F356F|EIF4G2_ENST00000339995.5_Silent_p.F356F	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGGGTGGCATGAACGGTCCCT	0.428																																						uc001mjc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1066-1068)TTC>TTT		eukaryotic translation initiation factor 4		G	,,	0,4402		0,0,2201	142.0	138.0	139.0		1068,1068,1068	-1.0	1.0	11	dbSNP_134	139	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	EIF4G2	NM_001042559.2,NM_001172705.1,NM_001418.3	,,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,,	356/870,356/908,356/908	10823911	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10823911G>A	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1068C>T	11.37:g.10823911G>A						EIF4G2_uc001mjb.2_Silent_p.F150F|EIF4G2_uc009ygf.2_Silent_p.F150F|EIF4G2_uc001mjd.2_Silent_p.F356F|EIF4G2_uc001mjf.1_Silent_p.F150F|SNORD97_uc009yge.2_5'Flank	p.F356F	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	12	1485	-			356						Silent	SNP	ENST00000526148.1	37	c.1068C>T	CCDS31428.1																																																																																				0.428	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1		NM_001418		21	130	0	0	0	0.00278	0	21	130		
SPON1	10418	broad.mit.edu	37	11	14280896	14280896	+	RNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:14280896G>A	ENST00000310358.7	+	0	2098							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GCATGGGCATGAGGTCCCGGG	0.627																																						uc001mle.2		NaN																	0					0						c.(1561-1563)ATG>ATA		spondin 1, extracellular matrix protein							37.0	40.0	39.0					11																	14280896		2142	4249	6391			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14280896G>A	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14280896G>A							p.M521I	NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	13	2101	+			521			TSP type-1 2.		A8K6W5|O94862|Q8NCD7|Q8WUR5	Missense_Mutation	SNP	ENST00000310358.7	37	c.1563G>A		.	.	.	.	.	.	.	.	.	.	G	9.967	1.224484	0.22457	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.87	5.87	0.94306	.	0.335037	0.35970	N	0.002861	T	0.47322	0.1439	.	.	.	0.28315	N	0.922509	B	0.02656	0.0	B	0.04013	0.001	T	0.44360	-0.9333	7	0.21540	T	0.41	.	17.7017	0.88296	0.0:0.0:1.0:0.0	.	521	Q9HCB6	SPON1_HUMAN	I	520	.	ENSP00000309297:M520I	M	+	3	0	SPON1	14237472	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	3.019000	0.49635	2.781000	0.95711	0.655000	0.94253	ATG		0.627	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript			NM_145584		7	46	0	0	0	0.008291	0	7	46		
SPON1	10418	broad.mit.edu	37	11	14280908	14280908	+	RNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:14280908G>A	ENST00000310358.7	+	0	2110							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGTCCCGGGAGAGGTATGTGA	0.632																																						uc001mle.2		NaN																	0					0						c.(1573-1575)GAG>GAA		spondin 1, extracellular matrix protein							37.0	40.0	39.0					11																	14280908		2146	4241	6387			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14280908G>A	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14280908G>A							p.E525E	NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	13	2113	+			525			TSP type-1 2.		A8K6W5|O94862|Q8NCD7|Q8WUR5	Silent	SNP	ENST00000310358.7	37	c.1575G>A																																																																																					0.632	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript			NM_145584		7	46	0	0	0	0.010729	0	7	46		
SPON1	10418	broad.mit.edu	37	11	14282247	14282247	+	RNA	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:14282247G>C	ENST00000534587.1	-	0	480				SPON1_ENST00000310358.7_RNA																							AGAACTTGGAGACTGCAATGA	0.577																																						uc001mle.2		NaN																	0					0						c.(1945-1947)GAC>CAC		spondin 1, extracellular matrix protein							83.0	87.0	86.0					11																	14282247		2065	4212	6277			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14282247G>C																													11.37:g.14282247G>C							p.D649H	NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	15	2483	+			649			TSP type-1 4.			Missense_Mutation	SNP	ENST00000534587.1	37	c.1945G>C		.	.	.	.	.	.	.	.	.	.	G	13.90	2.375031	0.42105	.	.	ENSG00000152268	ENST00000310358	.	.	.	4.57	4.57	0.56435	.	0.102918	0.64402	D	0.000004	T	0.65616	0.2708	.	.	.	0.49483	D	0.999790	P	0.49696	0.927	P	0.52267	0.694	T	0.75249	-0.3384	7	0.56958	D	0.05	.	14.9279	0.70893	0.0:0.0:1.0:0.0	.	649	Q9HCB6	SPON1_HUMAN	H	648	.	ENSP00000309297:D648H	D	+	1	0	SPON1	14238823	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.310000	0.78947	2.363000	0.80096	0.655000	0.94253	GAC		0.577	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1				20	76	0	0	0	0.003954	0	20	76		
COPB1	1315	broad.mit.edu	37	11	14487843	14487843	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:14487843C>G	ENST00000249923.3	-	17	2575	c.2275G>C	c.(2275-2277)Gaa>Caa	p.E759Q	COPB1_ENST00000439561.2_Missense_Mutation_p.E759Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	759					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GTAGCTAGTTCTAATGTGCAA	0.383																																						uc001mli.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2275-2277)GAA>CAA		coatomer protein complex, subunit beta 1							221.0	207.0	211.0					11																	14487843		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14487843C>G	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2275G>C	11.37:g.14487843C>G	ENSP00000249923:p.Glu759Gln					COPB1_uc001mlg.2_Missense_Mutation_p.E759Q|COPB1_uc001mlh.2_Missense_Mutation_p.E759Q	p.E759Q	NM_016451	NP_057535	P53618	COPB_HUMAN			17	2582	-			759					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.2275G>C	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789632	0.70337	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.57752	0.38;0.38	5.56	4.64	0.57946	Coatomer, beta subunit, C-terminal (1);	0.043668	0.85682	N	0.000000	T	0.73791	0.3632	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76672	-0.2873	10	0.46703	T	0.11	-0.218	16.4332	0.83860	0.0:0.8684:0.1316:0.0	.	759	P53618	COPB_HUMAN	Q	759	ENSP00000249923:E759Q;ENSP00000397873:E759Q	ENSP00000249923:E759Q	E	-	1	0	COPB1	14444419	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.818000	0.86416	1.333000	0.45449	-0.176000	0.13171	GAA		0.383	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1		NM_016451		22	96	0	0	0	0.004656	0	22	96		
TPH1	7166	broad.mit.edu	37	11	18057567	18057567	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:18057567C>T	ENST00000250018.2	-	2	802	c.240G>A	c.(238-240)ctG>ctA	p.L80L	TPH1_ENST00000341556.2_Silent_p.L80L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	80	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TATGAGACTTCAGCAGATGAA	0.318																																						uc001mnp.2		NaN																	0					0						c.(238-240)CTG>CTA		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						108.0	105.0	106.0					11																	18057567		2200	4293	6493	SO:0001819	synonymous_variant	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18057567C>T	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.240G>A	11.37:g.18057567C>T						TPH1_uc009yhe.2_RNA	p.L80L	NM_004179	NP_004170	P17752	TPH1_HUMAN			2	266	-			80			ACT.		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Silent	SNP	ENST00000250018.2	37	c.240G>A	CCDS7829.1																																																																																				0.318	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1		NM_004179		7	32	0	0	0	0.00308	0	7	32		
LRP4	4038	broad.mit.edu	37	11	46917828	46917828	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:46917828C>T	ENST00000378623.1	-	9	1223	c.981G>A	c.(979-981)caG>caA	p.Q327Q		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	327	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACAGCTTCCTCTGCCCAATGC	0.597																																						uc001ndn.3		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(979-981)CAG>CAA		low density lipoprotein receptor-related protein							95.0	88.0	90.0					11																	46917828		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46917828C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.981G>A	11.37:g.46917828C>T							p.Q327Q	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	9	1127	-			327			Extracellular (Potential).|LDL-receptor class A 8.		B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.981G>A	CCDS31478.1																																																																																				0.597	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1		NM_002334		23	122	0	0	0	0.00333	0	23	122		
MTCH2	23788	broad.mit.edu	37	11	47660529	47660529	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:47660529G>C	ENST00000302503.3	-	2	319	c.162C>G	c.(160-162)ctC>ctG	p.L54L	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	54					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CATAACTAAAGAGACCAGGAA	0.383																																						uc010rho.1		NaN																	0					0						c.(160-162)CTC>CTG		mitochondrial carrier 2							76.0	72.0	73.0					11																	47660529		2201	4298	6499	SO:0001819	synonymous_variant	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47660529G>C	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.162C>G	11.37:g.47660529G>C						MTCH2_uc001nge.2_5'UTR|MTCH2_uc010rhp.1_5'UTR	p.L54L	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN			2	351	-			54			Solcar 1.		B2R7L8	Silent	SNP	ENST00000302503.3	37	c.162C>G	CCDS7943.1																																																																																				0.383	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2		NM_014342		13	43	0	0	0	0.00499	0	13	43		
SSRP1	6749	broad.mit.edu	37	11	57100260	57100260	+	Missense_Mutation	SNP	G	G	A	rs368418155		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:57100260G>A	ENST00000278412.2	-	6	873	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	203					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TGCAGCTCCCGGAAGATGCAG	0.527																																					Colon(89;1000 1340 6884 23013 41819)	uc001njt.2		NaN																	0				ovary(2)	2						c.(607-609)CGG>TGG		structure specific recognition protein 1		G	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	72.0	70.0	71.0		607	5.1	1.0	11		71	0,8592		0,0,4296	no	missense	SSRP1	NM_003146.2	101	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	203/710	57100260	1,12993	2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57100260G>A	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.607C>T	11.37:g.57100260G>A	ENSP00000278412:p.Arg203Trp					SSRP1_uc010rjq.1_Missense_Mutation_p.R203W	p.R203W	NM_003146	NP_003137	Q08945	SSRP1_HUMAN			6	874	-			203					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.607C>T	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976549	0.74360	2.27E-4	0.0	ENSG00000149136	ENST00000278412;ENST00000526696;ENST00000529002	T;T;T	0.47177	0.85;0.85;0.85	5.97	5.06	0.68205	.	0.060121	0.64402	D	0.000004	T	0.61299	0.2336	L	0.54323	1.7	0.58432	D	0.999999	D	0.76494	0.999	P	0.61658	0.892	T	0.65080	-0.6255	10	0.72032	D	0.01	-16.3411	14.9654	0.71188	0.069:0.0:0.931:0.0	.	203	Q08945	SSRP1_HUMAN	W	203;106;106	ENSP00000278412:R203W;ENSP00000431154:R106W;ENSP00000434546:R106W	ENSP00000278412:R203W	R	-	1	2	SSRP1	56856836	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.598000	0.74122	1.541000	0.49316	0.561000	0.74099	CGG		0.527	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1		NM_003146		5	71	0	0	0	0.001984	0	5	71		
MS4A1	931	broad.mit.edu	37	11	60233575	60233575	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:60233575C>T	ENST00000534668.1	+	5	807	c.518C>T	c.(517-519)tCt>tTt	p.S173F	MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000345732.4_Missense_Mutation_p.S173F|MS4A1_ENST00000389939.2_Missense_Mutation_p.S173F|MS4A1_ENST00000532073.1_Missense_Mutation_p.S173F	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	173	Epitope 3 (recognized by antibodies, including Rituximab).				B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	GCTAATCCCTCTGAGAAAAAC	0.358																																						uc001npp.2		NaN																	0				ovary(3)|lung(2)	5						c.(517-519)TCT>TTT		membrane-spanning 4-domains, subfamily A, member	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						120.0	112.0	115.0					11																	60233575		2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60233575C>T	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.518C>T	11.37:g.60233575C>T	ENSP00000433277:p.Ser173Phe					MS4A1_uc001npq.2_Missense_Mutation_p.S173F|MS4A1_uc009yna.2_Missense_Mutation_p.S173F|MS4A1_uc009ymz.2_Missense_Mutation_p.S173F|MS4A1_uc010rlc.1_Intron	p.S173F	NM_152866	NP_690605	P11836	CD20_HUMAN			6	934	+			173			Epitope 3 (recognized by antibodies, including Rituximab).		A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.518C>T	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768635	0.49680	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000389939	T;T;T;T	0.02682	4.2;4.2;4.2;4.2	4.71	2.82	0.32997	.	0.826419	0.10533	N	0.663592	T	0.07728	0.0194	M	0.65498	2.005	0.09310	N	1	P;P	0.48998	0.918;0.918	P;P	0.52267	0.694;0.694	T	0.28681	-1.0036	10	0.66056	D	0.02	-30.7585	5.8987	0.18953	0.189:0.7131:0.0:0.0978	.	173;173	E9PKH8;P11836	.;CD20_HUMAN	F	173	ENSP00000314620:S173F;ENSP00000433519:S173F;ENSP00000433277:S173F;ENSP00000374589:S173F	ENSP00000314620:S173F	S	+	2	0	MS4A1	59990151	0.000000	0.05858	0.002000	0.10522	0.076000	0.17211	0.727000	0.25999	0.698000	0.31739	0.655000	0.94253	TCT		0.358	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1				29	72	0	0	0	0.009535	0	29	72		
VWCE	220001	broad.mit.edu	37	11	61026481	61026481	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:61026481G>A	ENST00000335613.5	-	20	2920	c.2534C>T	c.(2533-2535)tCa>tTa	p.S845L	VWCE_ENST00000535710.1_Missense_Mutation_p.S310L	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	845	Pro-rich.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGGCCCTGGTGAGAGTCGAGG	0.642																																						uc001nra.2		NaN																	0				ovary(1)	1						c.(2533-2535)TCA>TTA		von Willebrand factor C and EGF domains							35.0	40.0	39.0					11																	61026481		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61026481G>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2534C>T	11.37:g.61026481G>A	ENSP00000334186:p.Ser845Leu					VWCE_uc001nrb.2_RNA	p.S845L	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			20	2813	-			845			Pro-rich.		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.2534C>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576535	0.65878	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.70749	-0.51;3.36	4.41	3.48	0.39840	.	0.000000	0.34700	N	0.003744	T	0.61590	0.2359	L	0.50333	1.59	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.57974	-0.7718	10	0.66056	D	0.02	.	8.8305	0.35080	0.1126:0.0:0.8874:0.0	.	845	Q96DN2	VWCE_HUMAN	L	845;310	ENSP00000334186:S845L;ENSP00000442570:S310L	ENSP00000334186:S845L	S	-	2	0	VWCE	60783057	0.699000	0.27786	0.100000	0.21137	0.026000	0.11368	1.650000	0.37292	2.151000	0.67156	0.655000	0.94253	TCA		0.642	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1		NM_152718		10	32	0	0	0	0.010729	0	10	32		
PPP1R32	220004	broad.mit.edu	37	11	61252187	61252187	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:61252187G>C	ENST00000338608.2	+	5	534	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	PPP1R32_ENST00000432063.2_Missense_Mutation_p.E137Q|RP11-286N22.8_ENST00000544880.1_3'UTR	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	137							phosphatase binding (GO:0019902)										CGACACCCAGGAGCACGGGCC	0.642																																						uc001nru.1		NaN																	0				ovary(1)	1						c.(409-411)GAG>CAG		IIIG9 protein							34.0	30.0	32.0					11																	61252187		2202	4299	6501	SO:0001583	missense	220004							g.chr11:61252187G>C	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.409G>C	11.37:g.61252187G>C	ENSP00000344140:p.Glu137Gln					C11orf66_uc009ynq.1_Missense_Mutation_p.E137Q	p.E137Q	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN			5	534	+			137					Q4G0P4|Q96M77	Missense_Mutation	SNP	ENST00000338608.2	37	c.409G>C	CCDS8008.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902051	0.72754	.	.	ENSG00000162148	ENST00000432063;ENST00000338608	T;T	0.45276	0.9;1.48	5.33	5.33	0.75918	.	0.500078	0.18395	N	0.142541	T	0.40815	0.1132	L	0.36672	1.1	0.80722	D	1	P;P	0.44816	0.844;0.844	B;P	0.44359	0.354;0.447	T	0.23261	-1.0193	10	0.45353	T	0.12	-14.5828	15.9354	0.79698	0.0:0.0:1.0:0.0	.	137;137	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	Q	137	ENSP00000391560:E137Q;ENSP00000344140:E137Q	ENSP00000344140:E137Q	E	+	1	0	C11orf66	61008763	1.000000	0.71417	0.996000	0.52242	0.882000	0.50991	5.245000	0.65405	2.507000	0.84556	0.462000	0.41574	GAG		0.642	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1		NM_145017		5	30	0	0	0	0.004482	0	5	30		
MYRF	745	broad.mit.edu	37	11	61545871	61545871	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:61545871G>A	ENST00000278836.5	+	14	2019	c.1923G>A	c.(1921-1923)gtG>gtA	p.V641V	MYRF_ENST00000389602.4_Silent_p.V32V|MYRF_ENST00000265460.5_Silent_p.V632V|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Silent_p.V266V	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	641	Peptidase S74.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTCAGGAGGTGAAGGAGATCT	0.537																																						uc001nsc.1		NaN																	0				breast(1)	1						c.(1921-1923)GTG>GTA		myelin gene regulatory factor isoform 2							129.0	121.0	124.0					11																	61545871		2202	4299	6501	SO:0001819	synonymous_variant	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61545871G>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1923G>A	11.37:g.61545871G>A						C11orf9_uc001nse.1_Silent_p.V632V|C11orf9_uc010rll.1_Silent_p.V32V	p.V641V	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			14	2019	+			641					O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	c.1923G>A	CCDS44622.1																																																																																				0.537	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2		NM_013279		22	182	0	0	0	0.004656	0	22	182		
MYRF	745	broad.mit.edu	37	11	61545877	61545877	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:61545877G>A	ENST00000278836.5	+	14	2025	c.1929G>A	c.(1927-1929)gaG>gaA	p.E643E	MYRF_ENST00000389602.4_Silent_p.E34E|MYRF_ENST00000265460.5_Silent_p.E634E|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Silent_p.E268E	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	643	Peptidase S74.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGGTGAAGGAGATCTTGCCTG	0.547																																						uc001nsc.1		NaN																	0				breast(1)	1						c.(1927-1929)GAG>GAA		myelin gene regulatory factor isoform 2							137.0	127.0	131.0					11																	61545877		2202	4299	6501	SO:0001819	synonymous_variant	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61545877G>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1929G>A	11.37:g.61545877G>A						C11orf9_uc001nse.1_Silent_p.E634E|C11orf9_uc010rll.1_Silent_p.E34E	p.E643E	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			14	2025	+			643					O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	c.1929G>A	CCDS44622.1																																																																																				0.547	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2		NM_013279		24	182	0	0	0	0.007291	0	24	182		
AHNAK	79026	broad.mit.edu	37	11	62296070	62296070	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:62296070A>G	ENST00000378024.4	-	5	6093	c.5819T>C	c.(5818-5820)gTg>gCg	p.V1940A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1940					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGACACATCCACATCCCCTTT	0.502																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(5818-5820)GTG>GCG		AHNAK nucleoprotein isoform 1							212.0	223.0	219.0					11																	62296070		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296070A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5819T>C	11.37:g.62296070A>G	ENSP00000367263:p.Val1940Ala					AHNAK_uc001ntk.1_Intron	p.V1940A	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	6119	-		Melanoma(852;0.155)	1940					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5819T>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	4.561	0.104230	0.08731	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.01347	4.99	2.29	0.902	0.19290	.	.	.	.	.	T	0.03651	0.0104	M	0.91663	3.23	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21861	-1.0233	9	0.46703	T	0.11	.	7.4842	0.27423	0.8688:0.0:0.1312:0.0	.	1940	Q09666	AHNK_HUMAN	A	29;1940	ENSP00000367263:V1940A	ENSP00000244934:V29A	V	-	2	0	AHNAK	62052646	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.071000	0.14594	-0.202000	0.10268	-2.704000	0.00135	GTG		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		9	314	0	0	0	0.004482	0	9	314		
NXF1	10482	broad.mit.edu	37	11	62569489	62569489	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:62569489G>C	ENST00000532297.1	-	6	1112	c.483C>G	c.(481-483)ttC>ttG	p.F161L	NXF1_ENST00000531131.1_Missense_Mutation_p.F24L|NXF1_ENST00000439713.2_Missense_Mutation_p.F161L|NXF1_ENST00000294172.2_Missense_Mutation_p.F161L|NXF1_ENST00000531709.2_Missense_Mutation_p.F161L			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	161	Interaction with ALYREF/THOC4.|RRM.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTCAACGAAGAACTGGGCCC	0.522																																						uc001nvf.1		NaN																	0				skin(3)	3						c.(481-483)TTC>TTG		nuclear RNA export factor 1 isoform 1							92.0	96.0	95.0					11																	62569489		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62569489G>C	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.483C>G	11.37:g.62569489G>C	ENSP00000436679:p.Phe161Leu					NXF1_uc001nvg.1_Missense_Mutation_p.F161L|NXF1_uc009yog.1_Missense_Mutation_p.F204L|NXF1_uc010rmh.1_Missense_Mutation_p.F24L	p.F161L	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			5	619	-			161			Interaction with THOC4.|RRM.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.483C>G	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300441	0.81136	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713;ENST00000533671	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.31	0.287	0.15714	Nuclear RNA export factor Tap, RNA-binding domain (2);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.77948	0.4207	M	0.82132	2.575	0.58432	D	0.999999	D;D;D;D	0.89917	0.996;0.999;0.999;1.0	D;D;D;D	0.91635	0.991;0.996;0.992;0.999	T	0.75235	-0.3389	10	0.56958	D	0.05	-21.6275	8.1748	0.31275	0.4212:0.0:0.5788:0.0	.	24;204;174;161	B4E227;E9PIN3;Q59E96;Q9UBU9	.;.;.;NXF1_HUMAN	L	161;161;204;161;101	ENSP00000294172:F161L;ENSP00000436679:F161L;ENSP00000435742:F204L;ENSP00000408864:F161L;ENSP00000431381:F101L	ENSP00000294172:F161L	F	-	3	2	NXF1	62326065	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	2.027000	0.41078	0.053000	0.16036	-0.258000	0.10820	TTC		0.522	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2		NM_006362		17	105	0	0	0	0.00278	0	17	105		
NXF1	10482	broad.mit.edu	37	11	62570909	62570909	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:62570909C>T	ENST00000532297.1	-	4	980	c.351G>A	c.(349-351)aaG>aaA	p.K117K	NXF1_ENST00000531131.1_Intron|NXF1_ENST00000439713.2_Silent_p.K117K|NXF1_ENST00000294172.2_Silent_p.K117K|NXF1_ENST00000531709.2_Silent_p.K117K			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	117	Interaction with ALYREF/THOC4.|Major non-specific RNA-binding.|RNA-binding (RBD).				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAACCAGTTCTTTGAGGTCC	0.473																																						uc001nvf.1		NaN																	0				skin(3)	3						c.(349-351)AAG>AAA		nuclear RNA export factor 1 isoform 1							129.0	131.0	130.0					11																	62570909		2201	4299	6500	SO:0001819	synonymous_variant	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62570909C>T	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.351G>A	11.37:g.62570909C>T						NXF1_uc001nvg.1_Silent_p.K117K|NXF1_uc009yog.1_Silent_p.K160K|NXF1_uc010rmh.1_Intron	p.K117K	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			3	487	-			117			Interaction with THOC4.		B4E269|Q99799|Q9UQL2	Silent	SNP	ENST00000532297.1	37	c.351G>A	CCDS8037.1																																																																																				0.473	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2		NM_006362		25	185	0	0	0	0.007291	0	25	185		
STX5	6811	broad.mit.edu	37	11	62575050	62575050	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:62575050G>C	ENST00000294179.3	-	11	1112	c.959C>G	c.(958-960)tCa>tGa	p.S320*	STX5_ENST00000394690.1_Nonsense_Mutation_p.S266*|NXF1_ENST00000531131.1_5'Flank|NXF1_ENST00000439713.2_5'Flank|NXF1_ENST00000532297.1_5'Flank|NXF1_ENST00000294172.2_5'Flank|RP11-727F15.13_ENST00000596971.1_RNA|NXF1_ENST00000531709.2_5'Flank|STX5_ENST00000541317.1_Nonsense_Mutation_p.S224*|STX5_ENST00000377897.4_3'UTR	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	320	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GAGGATCTCTGAATGGGCGGC	0.507																																						uc001nvh.2		NaN																	0				ovary(1)|breast(1)	2						c.(958-960)TCA>TGA		syntaxin 5							152.0	129.0	137.0					11																	62575050		2201	4299	6500	SO:0001587	stop_gained	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62575050G>C	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.959C>G	11.37:g.62575050G>C	ENSP00000294179:p.Ser320*					NXF1_uc001nvf.1_5'Flank|NXF1_uc001nvg.1_5'Flank|NXF1_uc009yog.1_5'Flank|NXF1_uc010rmh.1_5'Flank|STX5_uc010rmi.1_Nonsense_Mutation_p.S224*|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Nonsense_Mutation_p.S266*|STX5_uc010rmj.1_3'UTR|STX5_uc001nvj.2_Nonsense_Mutation_p.S135*	p.S320*	NM_003164	NP_003155	Q13190	STX5_HUMAN			11	1113	-			320			t-SNARE coiled-coil homology.|Cytoplasmic (Potential).		B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Nonsense_Mutation	SNP	ENST00000294179.3	37	c.959C>G	CCDS8038.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000023	0.74818	.	.	ENSG00000162236	ENST00000294179;ENST00000394690;ENST00000541317	.	.	.	5.1	5.1	0.69264	.	0.449637	0.23861	N	0.043848	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-44.3429	11.4864	0.50356	0.0:0.0:0.8205:0.1795	.	.	.	.	X	320;266;224	.	ENSP00000294179:S320X	S	-	2	0	STX5	62331626	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	2.703000	0.47110	2.561000	0.86390	0.462000	0.41574	TCA		0.507	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1		NM_003164		11	32	0	0	0	0.010729	0	11	32		
SLC22A10	387775	broad.mit.edu	37	11	63072312	63072312	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:63072312G>A	ENST00000332793.6	+	9	1551	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_3'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	517						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CCTCCTACCAGAAACCAAGAA	0.433																																						uc009yor.2		NaN																	0				ovary(2)	2						c.(1549-1551)GAA>AAA		solute carrier family 22, member 10							160.0	141.0	147.0					11																	63072312		1914	4125	6039	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63072312G>A	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1549G>A	11.37:g.63072312G>A	ENSP00000327569:p.Glu517Lys					SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_3'UTR	p.E517K	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			9	1757	+			517			Extracellular (Potential).		Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.1549G>A	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835207	0.71373	.	.	ENSG00000184999	ENST00000332793	T	0.80653	-1.4	2.73	2.73	0.32206	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	D	0.92815	0.7715	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94071	0.7335	10	0.87932	D	0	.	11.3654	0.49668	0.0:0.0:1.0:0.0	.	517	Q63ZE4	S22AA_HUMAN	K	517	ENSP00000327569:E517K	ENSP00000327569:E517K	E	+	1	0	SLC22A10	62828888	1.000000	0.71417	0.506000	0.27664	0.265000	0.26407	5.198000	0.65147	1.566000	0.49654	0.579000	0.79373	GAA		0.433	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3		NM_001039752		12	55	0	0	0	0.001855	0	12	55		
RTN3	10313	broad.mit.edu	37	11	63486675	63486675	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:63486675C>T	ENST00000377819.5	+	3	855	c.701C>T	c.(700-702)tCa>tTa	p.S234L	RTN3_ENST00000339997.4_Missense_Mutation_p.S215L|RTN3_ENST00000540798.1_Missense_Mutation_p.S122L|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	234					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCCAAAGTTTCAGGAGATGAT	0.373																																						uc001nxq.2		NaN																	0				ovary(1)	1						c.(700-702)TCA>TTA		reticulon 3 isoform b							78.0	83.0	81.0					11																	63486675		2200	4298	6498	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63486675C>T	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.701C>T	11.37:g.63486675C>T	ENSP00000367050:p.Ser234Leu					RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.S215L|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.S122L|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	p.S234L	NM_201428	NP_958831	O95197	RTN3_HUMAN			3	888	+			234					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.701C>T	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746674	0.49257	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.24151	1.87;1.87;1.87	5.74	4.83	0.62350	.	2.113750	0.02630	N	0.104196	T	0.27454	0.0674	N	0.24115	0.695	0.27140	N	0.961672	P;P;P	0.43938	0.822;0.728;0.822	B;B;B	0.43916	0.436;0.253;0.436	T	0.31916	-0.9926	10	0.56958	D	0.05	-0.1913	10.83	0.46654	0.0:0.9131:0.0:0.0869	.	122;234;215	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	L	234;215;122	ENSP00000367050:S234L;ENSP00000344106:S215L;ENSP00000442733:S122L	ENSP00000344106:S215L	S	+	2	0	RTN3	63243251	0.000000	0.05858	0.033000	0.17914	0.711000	0.40976	0.099000	0.15210	1.443000	0.47586	0.591000	0.81541	TCA		0.373	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1		NM_006054		13	44	0	0	0	0.007413	0	13	44		
RTN3	10313	broad.mit.edu	37	11	63486765	63486765	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:63486765C>G	ENST00000377819.5	+	3	945	c.791C>G	c.(790-792)tCa>tGa	p.S264*	RTN3_ENST00000339997.4_Nonsense_Mutation_p.S245*|RTN3_ENST00000540798.1_Nonsense_Mutation_p.S152*|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	264					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTTAAAGACTCATATAAGGAG	0.368																																						uc001nxq.2		NaN																	0				ovary(1)	1						c.(790-792)TCA>TGA		reticulon 3 isoform b							76.0	78.0	77.0					11																	63486765		2201	4298	6499	SO:0001587	stop_gained	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63486765C>G	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.791C>G	11.37:g.63486765C>G	ENSP00000367050:p.Ser264*					RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Nonsense_Mutation_p.S245*|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Nonsense_Mutation_p.S152*|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	p.S264*	NM_201428	NP_958831	O95197	RTN3_HUMAN			3	978	+			264					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Nonsense_Mutation	SNP	ENST00000377819.5	37	c.791C>G	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320797	0.60634	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	.	.	.	5.98	2.04	0.26737	.	0.753612	0.11317	N	0.576412	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	0.0118	7.7524	0.28904	0.0:0.6601:0.0:0.3399	.	.	.	.	X	264;245;152	.	ENSP00000344106:S245X	S	+	2	0	RTN3	63243341	0.000000	0.05858	0.000000	0.03702	0.769000	0.43574	0.353000	0.20130	0.125000	0.18397	0.591000	0.81541	TCA		0.368	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1		NM_006054		16	28	0	0	0	0.006122	0	16	28		
ESRRA	2101	broad.mit.edu	37	11	64082560	64082560	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:64082560C>G	ENST00000405666.1	+	6	1064	c.830C>G	c.(829-831)tCa>tGa	p.S277*	ESRRA_ENST00000406310.1_Nonsense_Mutation_p.S276*|ESRRA_ENST00000000442.6_Nonsense_Mutation_p.S277*|PRDX5_ENST00000265462.4_5'Flank	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	277	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GCCCAGCGCTCACTGCCACTG	0.647																																						uc001nzq.1		NaN																	0					0						c.(829-831)TCA>TGA		estrogen-related receptor alpha							19.0	21.0	21.0					11																	64082560		2124	4235	6359	SO:0001587	stop_gained	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64082560C>G	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.830C>G	11.37:g.64082560C>G	ENSP00000384851:p.Ser277*					ESRRA_uc001nzr.1_Nonsense_Mutation_p.S276*|ESRRA_uc001nzs.1_Nonsense_Mutation_p.S277*|ESRRA_uc009ypn.1_RNA	p.S277*	NM_004451	NP_004442	P11474	ERR1_HUMAN			6	1007	+			277			Ligand binding domain.		Q14514	Nonsense_Mutation	SNP	ENST00000405666.1	37	c.830C>G	CCDS41667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.37|16.37	3.103783|3.103783	0.56291|0.56291	.|.	.|.	ENSG00000173153|ENSG00000173153	ENST00000545035|ENST00000406310;ENST00000000442;ENST00000539594;ENST00000405666	.|.	.|.	.|.	4.14|4.14	4.14|4.14	0.48551|0.48551	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.69762|.	0.3147|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79485|.	-0.1784|.	3|.	.|0.87932	.|D	.|0	.|.	14.3272|14.3272	0.66528|0.66528	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	58|276;277;134;277	.|.	.|ENSP00000000442:S277X	H|S	+|+	1|2	0|0	ESRRA|ESRRA	63839136|63839136	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.975000|0.975000	0.68041|0.68041	7.606000|7.606000	0.82863|0.82863	2.309000|2.309000	0.77851|0.77851	0.462000|0.462000	0.41574|0.41574	CAC|TCA		0.647	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1		NM_004451		13	71	0	0	0	0.006122	0	13	71		
RASGRP2	10235	broad.mit.edu	37	11	64508453	64508453	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:64508453C>T	ENST00000354024.3	-	5	590	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	RASGRP2_ENST00000377494.1_Missense_Mutation_p.R113Q|RASGRP2_ENST00000377489.1_Missense_Mutation_p.R113Q|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000377497.3_Missense_Mutation_p.R113Q|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000377486.3_Missense_Mutation_p.R113Q|RASGRP2_ENST00000377487.1_Missense_Mutation_p.R113Q|RASGRP2_ENST00000394432.3_Missense_Mutation_p.R113Q|RASGRP2_ENST00000394430.1_Missense_Mutation_p.R113Q	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	113	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.R175Q(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGTGCCGTCGGTTCCCTTC	0.557											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc009ypu.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(337-339)CGA>CAA		RAS guanyl releasing protein 2							75.0	60.0	65.0					11																	64508453		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64508453C>T	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.338G>A	11.37:g.64508453C>T	ENSP00000338864:p.Arg113Gln		OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077	RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'UTR|RASGRP2_uc009ypv.2_Missense_Mutation_p.R113Q|RASGRP2_uc009ypw.2_Missense_Mutation_p.R113Q	p.R113Q	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN			5	565	-			113			N-terminal Ras-GEF.		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.338G>A	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288320	0.40494	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822;ENST00000377486;ENST00000377487;ENST00000377489;ENST00000394430;ENST00000439594	T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	4.17	3.26	0.37387	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.124638	0.52532	D	0.000061	T	0.19927	0.0479	L	0.29908	0.895	0.27386	N	0.955262	B	0.28082	0.2	B	0.18871	0.023	T	0.10894	-1.0610	10	0.28530	T	0.3	-2.0811	11.4556	0.50181	0.1819:0.8181:0.0:0.0	.	113	Q7LDG7	GRP2_HUMAN	Q	113	ENSP00000366714:R113Q;ENSP00000377953:R113Q;ENSP00000366717:R113Q;ENSP00000338864:R113Q;ENSP00000399114:R113Q;ENSP00000366706:R113Q;ENSP00000366707:R113Q;ENSP00000366709:R113Q;ENSP00000377951:R113Q	ENSP00000338864:R113Q	R	-	2	0	RASGRP2	64265029	0.928000	0.31464	0.915000	0.36163	0.781000	0.44180	1.742000	0.38248	0.879000	0.35944	-0.678000	0.03780	CGA		0.557	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1		NM_153819		12	66	0	0	0	0.00245	0	12	66		
PPP2R5B	5526	broad.mit.edu	37	11	64694350	64694350	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:64694350C>T	ENST00000164133.2	+	3	988	c.366C>T	c.(364-366)atC>atT	p.I122I		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	122					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.I122I(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GTGTCCTCATCGAGCCCGTCT	0.662																																						uc001oby.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(364-366)ATC>ATT		beta isoform of regulatory subunit B56, protein							95.0	82.0	86.0					11																	64694350		2201	4297	6498	SO:0001819	synonymous_variant	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64694350C>T	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.366C>T	11.37:g.64694350C>T						PPP2R5B_uc001obz.2_Silent_p.I122I	p.I122I	NM_006244	NP_006235	Q15173	2A5B_HUMAN			3	951	+			122					Q13853	Silent	SNP	ENST00000164133.2	37	c.366C>T	CCDS8085.1																																																																																				0.662	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1		NM_006244		10	76	0	0	0	0.008291	0	10	76		
SNX15	29907	broad.mit.edu	37	11	64795031	64795031	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:64795031G>A	ENST00000377244.3	+	1	152	c.22G>A	c.(22-24)Gac>Aac	p.D8N	RP11-399J13.3_ENST00000301886.3_3'UTR|SNX15_ENST00000352068.5_Missense_Mutation_p.D8N	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	8	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						GGCGAAGGATGACTTCCTGCG	0.692											OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(56;269 1304 3324 8253)	uc001oci.3		NaN																	0				ovary(1)	1						c.(22-24)GAC>AAC		sorting nexin 15 isoform A							60.0	58.0	59.0					11																	64795031		2201	4297	6498	SO:0001583	missense	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64795031G>A	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.22G>A	11.37:g.64795031G>A	ENSP00000366452:p.Asp8Asn		OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1079	SNX15_uc009ypy.2_Missense_Mutation_p.D8N|SNX15_uc001ocj.2_Missense_Mutation_p.D8N|SNX15_uc001ock.2_Missense_Mutation_p.D8N	p.D8N	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN			4	675	+			8			PX.		E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	c.22G>A	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338479	0.81911	.	.	ENSG00000110025	ENST00000377244;ENST00000534637;ENST00000524831;ENST00000352068	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.32	5.32	0.75619	Phox homologous domain (3);	0.171637	0.50627	D	0.000101	T	0.52933	0.1765	L	0.46157	1.445	0.53005	D	0.999964	D;P;D	0.64830	0.994;0.955;0.994	D;P;D	0.66716	0.946;0.677;0.946	T	0.51537	-0.8693	10	0.66056	D	0.02	0.0978	16.5456	0.84444	0.0:0.0:1.0:0.0	.	8;8;8	E5KQS5;E5KQS6;Q9NRS6	.;.;SNX15_HUMAN	N	8	ENSP00000366452:D8N;ENSP00000437277:D8N;ENSP00000431690:D8N;ENSP00000316410:D8N	ENSP00000316410:D8N	D	+	1	0	SNX15	64551607	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	8.232000	0.89796	2.775000	0.95449	0.637000	0.83480	GAC		0.692	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3				35	236	0	0	0	0.006999	0	35	236		
SIPA1	6494	broad.mit.edu	37	11	65417656	65417656	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:65417656G>A	ENST00000394224.3	+	14	3192	c.2896G>A	c.(2896-2898)Gat>Aat	p.D966N	MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000527525.1_Missense_Mutation_p.D864N|SIPA1_ENST00000534313.1_Missense_Mutation_p.D966N|SIPA1_ENST00000394227.3_Missense_Mutation_p.D864N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	966					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TCCAAAATCTGATGCTGAGTA	0.602																																						uc001ofb.2		NaN																	0					0						c.(2896-2898)GAT>AAT		signal-induced proliferation-associated protein							86.0	86.0	86.0					11																	65417656		2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65417656G>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2896G>A	11.37:g.65417656G>A	ENSP00000377771:p.Asp966Asn					SIPA1_uc010rom.1_Missense_Mutation_p.D864N|SIPA1_uc001ofd.2_Missense_Mutation_p.D966N	p.D966N	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN			14	3063	+			966					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.2896G>A	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703133	0.68501	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	4.18	3.24	0.37175	.	0.684728	0.11577	N	0.550140	T	0.77280	0.4107	L	0.36672	1.1	0.24340	N	0.994968	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.63102	-0.6712	10	0.33141	T	0.24	-8.1226	8.2877	0.31939	0.1162:0.0:0.8838:0.0	.	864;966	F6RY50;Q96FS4	.;SIPA1_HUMAN	N	966;864;966;864	ENSP00000436269:D966N;ENSP00000433686:D864N;ENSP00000377771:D966N;ENSP00000377774:D864N	ENSP00000377771:D966N	D	+	1	0	SIPA1	65174232	0.994000	0.37717	0.982000	0.44146	0.835000	0.47333	2.649000	0.46656	0.712000	0.32039	0.313000	0.20887	GAT		0.602	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1		NM_006747		34	113	0	0	0	0.007835	0	34	113		
KDM2A	22992	broad.mit.edu	37	11	67021043	67021043	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:67021043C>G	ENST00000529006.2	+	19	3498	c.3052C>G	c.(3052-3054)Caa>Gaa	p.Q1018E	KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.Q579E|KDM2A_ENST00000308783.5_Missense_Mutation_p.Q476E|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1018					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CAAGGACCCTCAAATTCGGGA	0.552																																						uc001ojw.2		NaN																	0				ovary(4)|lung(3)|breast(1)|skin(1)	9						c.(3052-3054)CAA>GAA		F-box and leucine-rich repeat protein 11							99.0	100.0	99.0					11																	67021043		1972	4139	6111	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67021043C>G	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3052C>G	11.37:g.67021043C>G	ENSP00000432786:p.Gln1018Glu					KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.Q712E|KDM2A_uc001ojz.1_Missense_Mutation_p.Q476E|KDM2A_uc001oka.2_Missense_Mutation_p.Q142E	p.Q1018E	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN			19	3916	+			1018					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.3052C>G	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116047	0.77323	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.34859	1.34;1.34;1.34	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	L	0.55834	1.745	0.58432	D	0.999999	D;D;P	0.63880	0.981;0.993;0.956	P;P;P	0.62184	0.884;0.829;0.899	T	0.38243	-0.9670	10	0.24483	T	0.36	-11.2745	18.4487	0.90695	0.0:1.0:0.0:0.0	.	579;476;1018	E9PIL6;D4QA03;Q9Y2K7	.;.;KDM2A_HUMAN	E	1018;579;476	ENSP00000432786:Q1018E;ENSP00000435776:Q579E;ENSP00000309302:Q476E	ENSP00000309302:Q476E	Q	+	1	0	KDM2A	66777619	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.625000	0.83145	2.580000	0.87095	0.650000	0.86243	CAA		0.552	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2		NM_012308		17	81	0	0	0	0.006122	0	17	81		
SUV420H1	51111	broad.mit.edu	37	11	67925239	67925239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:67925239C>G	ENST00000304363.4	-	11	2927	c.2574G>C	c.(2572-2574)ttG>ttC	p.L858F		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	858					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.L858F(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTATTAACCTCAAGCGCTTAG	0.403																																						uc001onm.1		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|kidney(1)	3						c.(2572-2574)TTG>TTC		suppressor of variegation 4-20 homolog 1 isoform							61.0	62.0	62.0					11																	67925239		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925239C>G	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2574G>C	11.37:g.67925239C>G	ENSP00000305899:p.Leu858Phe					SUV420H1_uc009yse.1_Missense_Mutation_p.L444F|SUV420H1_uc001onn.1_Missense_Mutation_p.L686F|SUV420H1_uc009ysf.2_Missense_Mutation_p.L618F	p.L858F	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	2830	-			858					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2574G>C	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943944	0.53079	.	.	ENSG00000110066	ENST00000304363	T	0.64085	-0.08	5.71	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66999	-0.5781	10	0.87932	D	0	-13.6599	6.601	0.22701	0.0:0.6606:0.147:0.1923	.	858	Q4FZB7	SV421_HUMAN	F	858	ENSP00000305899:L858F	ENSP00000305899:L858F	L	-	3	2	SUV420H1	67681815	0.995000	0.38212	0.884000	0.34674	0.983000	0.72400	0.375000	0.20518	1.434000	0.47414	0.491000	0.48974	TTG		0.403	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1		NM_017635		7	20	0	0	0	0.001984	0	7	20		
SUV420H1	51111	broad.mit.edu	37	11	67925604	67925604	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:67925604C>T	ENST00000304363.4	-	11	2562	c.2209G>A	c.(2209-2211)Gga>Aga	p.G737R		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	737					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAGTTCATTCCATCATTCTCT	0.373																																						uc001onm.1		NaN																	0				ovary(2)|kidney(1)	3						c.(2209-2211)GGA>AGA		suppressor of variegation 4-20 homolog 1 isoform							210.0	209.0	210.0					11																	67925604		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925604C>T	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2209G>A	11.37:g.67925604C>T	ENSP00000305899:p.Gly737Arg					SUV420H1_uc009yse.1_Missense_Mutation_p.G323R|SUV420H1_uc001onn.1_Missense_Mutation_p.G565R|SUV420H1_uc009ysf.2_Missense_Mutation_p.G497R	p.G737R	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	2465	-			737					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2209G>A	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413865	0.42817	.	.	ENSG00000110066	ENST00000304363	T	0.54279	0.58	4.65	3.73	0.42828	.	0.376338	0.30028	N	0.010586	T	0.41213	0.1149	N	0.24115	0.695	0.80722	D	1	P	0.52577	0.954	B	0.43508	0.422	T	0.43523	-0.9386	10	0.62326	D	0.03	-11.8887	13.1995	0.59758	0.0:0.9218:0.0:0.0782	.	737	Q4FZB7	SV421_HUMAN	R	737	ENSP00000305899:G737R	ENSP00000305899:G737R	G	-	1	0	SUV420H1	67682180	0.514000	0.26202	0.027000	0.17364	0.736000	0.42039	1.653000	0.37323	1.156000	0.42514	0.313000	0.20887	GGA		0.373	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1		NM_017635		17	190	0	0	0	0.006122	0	17	190		
SUV420H1	51111	broad.mit.edu	37	11	67925754	67925754	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:67925754C>A	ENST00000304363.4	-	11	2412	c.2059G>T	c.(2059-2061)Gac>Tac	p.D687Y		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	687					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTAAAGCTGTCTTTTGTTTTG	0.443																																						uc001onm.1		NaN																	0				ovary(2)|kidney(1)	3						c.(2059-2061)GAC>TAC		suppressor of variegation 4-20 homolog 1 isoform							131.0	120.0	124.0					11																	67925754		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925754C>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2059G>T	11.37:g.67925754C>A	ENSP00000305899:p.Asp687Tyr					SUV420H1_uc009yse.1_Missense_Mutation_p.D273Y|SUV420H1_uc001onn.1_Missense_Mutation_p.D515Y|SUV420H1_uc009ysf.2_Missense_Mutation_p.D447Y	p.D687Y	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	2315	-			687					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2059G>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541745	0.45280	.	.	ENSG00000110066	ENST00000304363	T	0.49139	0.79	4.82	4.82	0.62117	.	0.297862	0.41396	D	0.000899	T	0.39733	0.1089	N	0.24115	0.695	0.80722	D	1	P	0.41131	0.739	P	0.46629	0.522	T	0.32079	-0.9920	10	0.62326	D	0.03	-29.4702	8.9317	0.35675	0.0:0.8366:0.0:0.1634	.	687	Q4FZB7	SV421_HUMAN	Y	687	ENSP00000305899:D687Y	ENSP00000305899:D687Y	D	-	1	0	SUV420H1	67682330	1.000000	0.71417	0.880000	0.34516	0.989000	0.77384	1.755000	0.38379	2.505000	0.84491	0.491000	0.48974	GAC		0.443	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1		NM_017635		16	33	1	0	1.02788e-11	0.00499	1.09461e-11	16	33		
MRGPRD	116512	broad.mit.edu	37	11	68748225	68748225	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:68748225G>A	ENST00000309106.3	-	1	230	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	77						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAGCCATGCTGAAGAGGAAGA	0.552																																						uc010rqf.1		NaN																	0				pancreas(1)	1						c.(229-231)TTC>TTT		MAS-related GPR, member D							69.0	67.0	68.0					11																	68748225		2200	4294	6494	SO:0001819	synonymous_variant	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68748225G>A	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.231C>T	11.37:g.68748225G>A							p.F77F	NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	231	-			77			Helical; Name=2; (Potential).		Q8NGK7	Silent	SNP	ENST00000309106.3	37	c.231C>T	CCDS31625.1																																																																																				0.552	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1		NM_198923		24	69	0	0	0	0.008361	0	24	69		
NUMA1	4926	broad.mit.edu	37	11	71725723	71725723	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:71725723C>T	ENST00000393695.3	-	15	3157	c.2826G>A	c.(2824-2826)gcG>gcA	p.A942A	NUMA1_ENST00000358965.6_Silent_p.A942A|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTCCTGCCCTCGCAGGCTCCT	0.642			T	RARA	APL																																	uc001orl.1		NaN		Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(2824-2826)GCG>GCA		nuclear mitotic apparatus protein 1							50.0	55.0	53.0					11																	71725723		2200	4293	6493	SO:0001819	synonymous_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725723C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2826G>A	11.37:g.71725723C>T						NUMA1_uc009ysw.1_Silent_p.A505A|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.A942A|NUMA1_uc001orn.2_Silent_p.A505A|NUMA1_uc009ysx.1_Silent_p.A942A|NUMA1_uc001oro.1_Silent_p.A942A	p.A942A	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			15	2998	-			942			Potential.			Silent	SNP	ENST00000393695.3	37	c.2826G>A	CCDS31633.1																																																																																				0.642	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1				25	95	0	0	0	0.007291	0	25	95		
FOLR2	2350	broad.mit.edu	37	11	71932542	71932542	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:71932542C>T	ENST00000298223.6	+	5	691	c.504C>T	c.(502-504)ctC>ctT	p.L168L	FOLR2_ENST00000449475.2_Intron|FOLR2_ENST00000454954.2_Silent_p.L127L	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	168					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	CTGGGGCTCTCTGCCGCACCT	0.597																																						uc009ytd.2		NaN																	0				breast(2)|ovary(1)	3						c.(502-504)CTC>CTT		folate receptor 2 precursor	Folic Acid(DB00158)						113.0	121.0	118.0					11																	71932542		2200	4293	6493	SO:0001819	synonymous_variant	2350				folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity	g.chr11:71932542C>T	AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.504C>T	11.37:g.71932542C>T						FOLR2_uc009yte.2_Silent_p.L168L|FOLR2_uc001ose.3_Silent_p.L168L|FOLR2_uc009ytf.2_Silent_p.L168L	p.L168L	NM_001113534	NP_001107006	P14207	FOLR2_HUMAN			5	673	+			168					Q05CA5|Q6GTE8	Silent	SNP	ENST00000298223.6	37	c.504C>T	CCDS8212.1	.	.	.	.	.	.	.	.	.	.	c	0.534	-0.856751	0.02630	.	.	ENSG00000165457	ENST00000413873	.	.	.	4.68	-0.89	0.10577	.	.	.	.	.	T	0.56426	0.1984	.	.	.	0.46241	D	0.998946	.	.	.	.	.	.	T	0.55655	-0.8107	5	0.62326	D	0.03	.	4.7527	0.13068	0.2356:0.2305:0.4547:0.0792	.	.	.	.	F	182	.	ENSP00000412980:S182F	S	+	2	0	FOLR2	71610190	0.013000	0.17824	0.001000	0.08648	0.301000	0.27625	0.022000	0.13511	-0.066000	0.12998	-0.521000	0.04368	TCT		0.597	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2		NM_000803		38	316	0	0	0	0.00361	0	38	316		
PPME1	51400	broad.mit.edu	37	11	73882471	73882471	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:73882471C>G	ENST00000328257.8	+	1	328	c.5C>G	c.(4-6)tCg>tGg	p.S2W	C2CD3_ENST00000334126.7_5'Flank|C2CD3_ENST00000539061.1_5'Flank|PPME1_ENST00000542710.1_3'UTR|C2CD3_ENST00000313663.7_5'Flank|PPME1_ENST00000398427.4_Missense_Mutation_p.S2W			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	2					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					CCCTCGATGTCGGCCCTCGAA	0.642																																						uc001ouw.2		NaN																	0					0						c.(4-6)TCG>TGG		protein phosphatase methylesterase 1							33.0	36.0	35.0					11																	73882471		2113	4209	6322	SO:0001583	missense	51400				protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	g.chr11:73882471C>G		CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.5C>G	11.37:g.73882471C>G	ENSP00000329867:p.Ser2Trp					C2CD3_uc001ouu.2_5'Flank|C2CD3_uc001ouv.2_5'Flank	p.S2W	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN			1	104	+	Breast(11;3.29e-05)		2					B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Missense_Mutation	SNP	ENST00000328257.8	37	c.5C>G	CCDS44678.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219080	0.79464	.	.	ENSG00000214517	ENST00000328257;ENST00000398427;ENST00000544401	.	.	.	4.97	4.97	0.65823	.	0.172689	0.39544	N	0.001332	T	0.75796	0.3898	M	0.64170	1.965	0.80722	D	1	D	0.69078	0.997	D	0.64410	0.925	T	0.79087	-0.1947	9	0.87932	D	0	-20.5882	16.979	0.86322	0.0:1.0:0.0:0.0	.	2	Q9Y570	PPME1_HUMAN	W	2	.	ENSP00000329867:S2W	S	+	2	0	PPME1	73560119	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.484000	0.60271	2.294000	0.77228	0.491000	0.48974	TCG		0.642	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398254.1		NM_016147		8	35	0	0	0	0.00308	0	8	35		
CHRDL2	25884	broad.mit.edu	37	11	74419417	74419417	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:74419417G>C	ENST00000376332.3	-	5	952	c.456C>G	c.(454-456)ctC>ctG	p.L152L	CHRDL2_ENST00000263671.5_Silent_p.L152L|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	152	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GGCAGGTTGTGAGGCCGCAGT	0.622																																						uc001ovi.2		NaN																	0					0						c.(454-456)CTC>CTG		RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;							44.0	40.0	41.0					11																	74419417		2198	4293	6491	SO:0001819	synonymous_variant	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74419417G>C	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.456C>G	11.37:g.74419417G>C						CHRDL2_uc001ovg.2_Silent_p.L36L|CHRDL2_uc001ovh.2_Silent_p.L152L|CHRDL2_uc001ovk.1_Silent_p.L152L	p.L152L			Q6WN34	CRDL2_HUMAN			5	709	-	Hepatocellular(1;0.098)		152			VWFC 2.		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	37	c.456C>G																																																																																					0.622	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1				5	36	0	0	0	0.00308	0	5	36		
XRRA1	143570	broad.mit.edu	37	11	74651851	74651851	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:74651851G>A	ENST00000340360.6	-	3	404	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	XRRA1_ENST00000527087.1_Silent_p.L25L|XRRA1_ENST00000533598.1_Intron|XRRA1_ENST00000321448.8_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						ACGCGAAGCAGATTTCTGGCT	0.498																																						uc009yub.2		NaN																	0				central_nervous_system(1)	1						c.(73-75)CTG>TTG		X-ray radiation resistance associated 1							52.0	53.0	53.0					11																	74651851		2175	4283	6458	SO:0001819	synonymous_variant	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74651851G>A	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.73C>T	11.37:g.74651851G>A						XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Silent_p.L25L|XRRA1_uc001ovp.3_Intron|XRRA1_uc001ovr.2_Intron	p.L25L	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN			3	405	-			25						Silent	SNP	ENST00000340360.6	37	c.73C>T	CCDS44680.1																																																																																				0.498	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1		NM_182969		4	14	0	0	0	0.001168	0	4	14		
PCF11	51585	broad.mit.edu	37	11	82879595	82879595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:82879595C>T	ENST00000298281.4	+	8	2670	c.2218C>T	c.(2218-2220)Cag>Tag	p.Q740*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	740	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GGATACAAATCAGCGACTTAC	0.433																																						uc001ozx.3		NaN																	0				ovary(1)	1						c.(2218-2220)CAG>TAG		pre-mRNA cleavage complex II protein Pcf11							112.0	109.0	110.0					11																	82879595		1895	4118	6013	SO:0001587	stop_gained	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82879595C>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2218C>T	11.37:g.82879595C>T	ENSP00000298281:p.Gln740*					PCF11_uc010rsu.1_Nonsense_Mutation_p.Q871*	p.Q740*	NM_015885	NP_056969	O94913	PCF11_HUMAN			8	2563	+			740			Gly-rich.		A6H8W7|O43671|Q6P0X8	Nonsense_Mutation	SNP	ENST00000298281.4	37	c.2218C>T	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	41	8.773804	0.98948	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	.	.	.	6.16	6.16	0.99307	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	740;871;740	.	.	Q	+	1	0	PCF11	82557243	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.359000	0.66074	2.937000	0.99478	0.650000	0.86243	CAG		0.433	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2		NM_015885		18	67	0	0	0	0.00333	0	18	67		
DLG2	1740	broad.mit.edu	37	11	83195224	83195224	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:83195224G>A	ENST00000398309.2	-	17	2396	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000280241.8_Silent_p.F681F|DLG2_ENST00000376104.2_Silent_p.F747F|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000543673.1_Silent_p.F747F|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000531015.1_Silent_p.F609F|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000330014.6_Intron	NM_001364.3	NP_001355.2	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	350					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTAGAATGGGAATTTTCGTG	0.398																																						uc001paj.2		NaN																	0				ovary(3)|pancreas(2)|skin(1)	6						c.(1924-1926)TTC>TTT		chapsyn-110 isoform 2							125.0	127.0	126.0					11																	83195224		2195	4299	6494	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83195224G>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398309.2:c.1926C>T	11.37:g.83195224G>A						DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Silent_p.F747F|DLG2_uc010rtb.1_Silent_p.F609F|DLG2_uc010rsw.1_Intron|DLG2_uc010rsx.1_Intron	p.F642F	NM_001364	NP_001355	Q15700	DLG2_HUMAN			17	2229	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	642					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000398309.2	37	c.1926C>T	CCDS41696.1																																																																																				0.398	DLG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259243.3		NM_001364		4	33	0	0	0	0.004482	0	4	33		
PANX1	24145	broad.mit.edu	37	11	93912933	93912933	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:93912933C>T	ENST00000227638.3	+	4	1096	c.711C>T	c.(709-711)ctC>ctT	p.L237L	PANX1_ENST00000436171.2_Silent_p.L237L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	237					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	ACTTCAGCCTCTCCTCACTCT	0.453																																						uc001per.2		NaN																	0					0						c.(709-711)CTC>CTT		pannexin 1							126.0	112.0	116.0					11																	93912933		2201	4298	6499	SO:0001819	synonymous_variant	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93912933C>T	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.711C>T	11.37:g.93912933C>T						PANX1_uc001peq.2_Silent_p.L237L	p.L237L	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN			4	1096	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	237			Helical; (Potential).		O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Silent	SNP	ENST00000227638.3	37	c.711C>T	CCDS8296.1																																																																																				0.453	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1		NM_015368		12	49	0	0	0	0.010729	0	12	49		
AMOTL1	154810	broad.mit.edu	37	11	94533394	94533394	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:94533394C>G	ENST00000433060.2	+	3	1179	c.1038C>G	c.(1036-1038)gtC>gtG	p.V346V	AMOTL1_ENST00000317829.8_Silent_p.V296V|AMOTL1_ENST00000317837.9_Silent_p.V346V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	346					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ACGAGATGGTCAAGCCCTACC	0.567																																						uc001pfb.2		NaN																	0				ovary(1)|breast(1)	2						c.(1036-1038)GTC>GTG		angiomotin like 1							113.0	114.0	114.0					11																	94533394		2014	4167	6181	SO:0001819	synonymous_variant	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94533394C>G	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1038C>G	11.37:g.94533394C>G						AMOTL1_uc001pfc.2_Silent_p.V296V	p.V346V	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			3	1208	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	346					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	c.1038C>G	CCDS44712.1																																																																																				0.567	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3		NM_130847		31	201	0	0	0	0.003755	0	31	201		
KIAA1377	57562	broad.mit.edu	37	11	101828992	101828992	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:101828992G>C	ENST00000263468.8	+	5	870	c.600G>C	c.(598-600)atG>atC	p.M200I	KIAA1377_ENST00000537689.1_Start_Codon_SNP_p.M1I	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	200										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGAAAGAAATGAATGAAAACA	0.378																																						uc001pgm.2		NaN																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(598-600)ATG>ATC		hypothetical protein LOC57562							169.0	180.0	176.0					11																	101828992		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101828992G>C	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.600G>C	11.37:g.101828992G>C	ENSP00000263468:p.Met200Ile					KIAA1377_uc001pgn.2_Missense_Mutation_p.M156I|KIAA1377_uc010run.1_Missense_Mutation_p.M1I|KIAA1377_uc009yxa.1_Missense_Mutation_p.M1I	p.M200I	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	5	870	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	200					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.600G>C	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867638	0.51588	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08458	3.09;3.09	5.56	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.11965	0.0291	M	0.74881	2.28	0.80722	D	1	B	0.28783	0.222	B	0.25759	0.063	T	0.03060	-1.1077	10	0.49607	T	0.09	-8.2155	11.5182	0.50536	0.1519:0.0:0.8481:0.0	.	200	Q9P2H0	K1377_HUMAN	I	200;1	ENSP00000263468:M200I;ENSP00000443184:M1I	ENSP00000263468:M200I	M	+	3	0	KIAA1377	101334202	0.999000	0.42202	1.000000	0.80357	0.335000	0.28730	0.260000	0.18424	1.339000	0.45563	0.650000	0.86243	ATG		0.378	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1		NM_020802		16	117	0	0	0	0.004007	0	16	117		
TMEM123	114908	broad.mit.edu	37	11	102272700	102272700	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:102272700G>A	ENST00000398136.2	-	3	815	c.395C>T	c.(394-396)aCa>aTa	p.T132I	TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000532161.1_Missense_Mutation_p.T44I|TMEM123_ENST00000361236.3_Missense_Mutation_p.T113I	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	132	Thr-rich.				oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		TACGGTCATTGTGGATGTTGA	0.388																																						uc001pha.2		NaN																	0				breast(2)	2						c.(394-396)ACA>ATA		transmembrane protein 123 precursor							406.0	373.0	384.0					11																	102272700		1994	4169	6163	SO:0001583	missense	114908				oncosis	external side of plasma membrane|integral to membrane	receptor activity	g.chr11:102272700G>A	AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"""pro oncosis receptor inducing membrane injury gene"""	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.395C>T	11.37:g.102272700G>A	ENSP00000381204:p.Thr132Ile					TMEM123_uc009yxc.2_Missense_Mutation_p.T113I	p.T132I	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)	3	816	-	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	132			Thr-rich.|Extracellular (Potential).		Q8IWS2|Q96QV2	Missense_Mutation	SNP	ENST00000398136.2	37	c.395C>T	CCDS41702.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439808	0.43326	.	.	ENSG00000152558	ENST00000361236;ENST00000398136;ENST00000532161;ENST00000528969	T;T;T;T	0.49139	0.79;1.74;0.81;0.81	4.33	1.29	0.21616	.	0.956346	0.08633	N	0.916730	T	0.42653	0.1212	L	0.39898	1.24	0.09310	N	1	B;P	0.50066	0.386;0.931	B;P	0.47430	0.167;0.547	T	0.30060	-0.9991	10	0.72032	D	0.01	-0.9612	4.7201	0.12913	0.1961:0.1873:0.6166:0.0	.	113;132	Q8N131-2;Q8N131	.;PORIM_HUMAN	I	113;132;44;44	ENSP00000355285:T113I;ENSP00000381204:T132I;ENSP00000435331:T44I;ENSP00000434976:T44I	ENSP00000355285:T113I	T	-	2	0	TMEM123	101777910	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.081000	0.14823	0.150000	0.19136	0.563000	0.77884	ACA		0.388	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394178.1		NM_052932		16	140	0	0	0	0.010504	0	16	140		
MMP20	9313	broad.mit.edu	37	11	102479695	102479695	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:102479695C>T	ENST00000260228.2	-	5	796	c.784G>A	c.(784-786)Gat>Aat	p.D262N	RP11-817J15.2_ENST00000544115.1_RNA|RP11-817J15.2_ENST00000542119.1_RNA|MMP20_ENST00000544938.1_5'Flank	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	271					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	CCTTTCACATCATCTTTGGGG	0.468																																						uc001phc.2		NaN																	0				urinary_tract(1)|skin(1)	2						c.(784-786)GAT>AAT		matrix metalloproteinase 20 preproprotein							151.0	135.0	140.0					11																	102479695		2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102479695C>T	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.784G>A	11.37:g.102479695C>T	ENSP00000260228:p.Asp262Asn						p.D262N	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	5	797	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	262					D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.784G>A	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045028	0.75846	.	.	ENSG00000137674	ENST00000260228	T	0.73258	-0.73	5.38	5.38	0.77491	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90317	0.6971	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93249	0.6633	10	0.87932	D	0	.	18.9412	0.92605	0.0:1.0:0.0:0.0	.	262	O60882	MMP20_HUMAN	N	262	ENSP00000260228:D262N	ENSP00000260228:D262N	D	-	1	0	MMP20	101984905	1.000000	0.71417	0.982000	0.44146	0.089000	0.18198	7.376000	0.79658	2.793000	0.96121	0.655000	0.94253	GAT		0.468	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1				11	119	0	0	0	0.00499	0	11	119		
CASP4	837	broad.mit.edu	37	11	104821781	104821781	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:104821781G>A	ENST00000444739.2	-	4	1327	c.417C>T	c.(415-417)ctC>ctT	p.L139L	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_Silent_p.L83L	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	139					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGCATATGATGAGAGCCAGGC	0.453																																						uc001pid.1		NaN																	0				lung(2)|ovary(1)|skin(1)	4						c.(415-417)CTC>CTT		caspase 4 isoform alpha precursor							213.0	193.0	200.0					11																	104821781		2202	4299	6501	SO:0001819	synonymous_variant	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104821781G>A	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.417C>T	11.37:g.104821781G>A						CASP4_uc001pib.1_Silent_p.L83L|CASP4_uc009yxg.1_Silent_p.L48L|CASP4_uc010rux.1_Silent_p.L139L	p.L139L	NM_001225	NP_001216	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	4	490	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	139					A2NHL8|A2NHM0	Silent	SNP	ENST00000444739.2	37	c.417C>T	CCDS8327.1																																																																																				0.453	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1		NM_001225		5	38	0	0	0	0.001984	0	5	38		
VPS11	55823	broad.mit.edu	37	11	118948904	118948904	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:118948904C>T	ENST00000300793.6	+	12	1822	c.1780C>T	c.(1780-1782)Ccc>Tcc	p.P594S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	595					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GGAGTTCATCCCCATCTTTGC	0.527																																						uc010ryx.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1783-1785)CCC>TCC		vacuolar protein sorting 11							151.0	151.0	151.0					11																	118948904		1985	4164	6149	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118948904C>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1780C>T	11.37:g.118948904C>T	ENSP00000475301:p.Pro594Ser					VPS11_uc010ryy.1_Missense_Mutation_p.P441S	p.P595S	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	12	1825	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	595					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.1783C>T																																																																																					0.527	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_021729		23	260	0	0	0	0.00632	0	23	260		
MFRP	83552	broad.mit.edu	37	11	119212284	119212284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:119212284C>T	ENST00000530681.1	-	13	1858	c.1714G>A	c.(1714-1716)Gac>Aac	p.D572N	C1QTNF5_ENST00000445041.2_5'UTR|C1QTNF5_ENST00000528368.1_5'Flank|C1QTNF5_ENST00000525657.1_5'Flank|MFRP_ENST00000555262.1_Missense_Mutation_p.D572N|MFRP_ENST00000449574.2_Missense_Mutation_p.D572N|MFRP_ENST00000360167.4_Missense_Mutation_p.D454N	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	572	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D572Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCTTCCAGGTCAGCTGCCTCT	0.662																																						uc001pwj.2		NaN																	1	Substitution - Missense(1)		kidney(1)		0						c.(1714-1716)GAC>AAC		membrane frizzled-related protein							19.0	24.0	23.0					11																	119212284		2192	4284	6476	SO:0001583	missense	83552					collagen		g.chr11:119212284C>T	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1714G>A	11.37:g.119212284C>T	ENSP00000456533:p.Asp572Asn					MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.D454N	p.D572N	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	13	1874	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Error:Variant_position_missing_in_Q9BXJ0_after_alignment					B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.1714G>A	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434977	0.43224	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.56776	0.44;0.44;0.44	4.22	3.29	0.37713	Frizzled domain (4);	0.272990	0.35646	N	0.003073	T	0.44767	0.1309	L	0.45744	1.44	0.28144	N	0.929665	P;P	0.40578	0.722;0.505	B;B	0.43990	0.438;0.305	T	0.26608	-1.0098	10	0.19147	T	0.46	-9.4655	7.2081	0.25919	0.0:0.734:0.1723:0.0936	.	454;572	B4DHN8;Q9BY79	.;MFRP_HUMAN	N	572;572;454	ENSP00000450509:D572N;ENSP00000391664:D572N;ENSP00000353291:D454N	ENSP00000353291:D454N	D	-	1	0	MFRP	118717494	0.998000	0.40836	0.992000	0.48379	0.661000	0.39034	3.428000	0.52792	0.942000	0.37525	0.561000	0.74099	GAC		0.662	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1		NM_031433		9	54	0	0	0	0.001368	0	9	54		
TECTA	7007	broad.mit.edu	37	11	120996548	120996548	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:120996548C>A	ENST00000392793.1	+	8	2012	c.1741C>A	c.(1741-1743)Cca>Aca	p.P581T	TECTA_ENST00000264037.2_Missense_Mutation_p.P581T			O75443	TECTA_HUMAN	tectorin alpha	581					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTTGGCATTCCAATTGGAGA	0.592																																						uc010rzo.1		NaN																	0				breast(6)|ovary(2)|skin(2)	10						c.(1741-1743)CCA>ACA		tectorin alpha precursor							59.0	48.0	51.0					11																	120996548		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996548C>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1741C>A	11.37:g.120996548C>A	ENSP00000376543:p.Pro581Thr						p.P581T	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	1741	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	581						Missense_Mutation	SNP	ENST00000392793.1	37	c.1741C>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	2.551	-0.304113	0.05495	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.75477	-0.94;-0.94	5.04	4.12	0.48240	Uncharacterised domain, cysteine-rich (2);	0.121598	0.56097	D	0.000024	T	0.57301	0.2044	N	0.20685	0.6	0.39426	D	0.966998	B	0.10296	0.003	B	0.16289	0.015	T	0.51725	-0.8669	10	0.19147	T	0.46	.	11.1949	0.48707	0.0:0.8001:0.1281:0.0718	.	581	O75443	TECTA_HUMAN	T	581	ENSP00000376543:P581T;ENSP00000264037:P581T	ENSP00000264037:P581T	P	+	1	0	TECTA	120501758	0.998000	0.40836	0.975000	0.42487	0.975000	0.68041	2.727000	0.47311	1.250000	0.43966	0.655000	0.94253	CCA		0.592	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		NM_005422		6	52	1	0	2.0095e-06	0.001984	2.09856e-06	6	52		
C11orf63	79864	broad.mit.edu	37	11	122805215	122805215	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:122805215C>G	ENST00000531316.1	+	4	1158	c.1066C>G	c.(1066-1068)Caa>Gaa	p.Q356E	C11orf63_ENST00000227349.2_Missense_Mutation_p.Q356E			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	356					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAATGACCATCAACCTTCCAG	0.448																																						uc001pym.2		NaN																	0				ovary(3)	3						c.(1066-1068)CAA>GAA		hypothetical protein LOC79864 isoform 1							75.0	62.0	66.0					11																	122805215		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122805215C>G	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1066C>G	11.37:g.122805215C>G	ENSP00000431669:p.Gln356Glu						p.Q356E	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	5	1363	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	356					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.1066C>G	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355173	0.24512	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.25414	1.8;1.8	4.93	4.02	0.46733	.	0.748702	0.12192	N	0.491154	T	0.32585	0.0834	M	0.70595	2.14	0.09310	N	1	P	0.46784	0.884	B	0.43658	0.426	T	0.15037	-1.0451	10	0.49607	T	0.09	-1.3997	10.2959	0.43625	0.0:0.9082:0.0:0.0918	.	356	Q6NUN7	CK063_HUMAN	E	356	ENSP00000227349:Q356E;ENSP00000431669:Q356E	ENSP00000227349:Q356E	Q	+	1	0	C11orf63	122310425	0.570000	0.26651	0.067000	0.19924	0.013000	0.08279	1.616000	0.36933	1.305000	0.44909	0.585000	0.79938	CAA		0.448	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1		NM_024806		6	24	0	0	0	0.004482	0	6	24		
ESAM	90952	broad.mit.edu	37	11	124623758	124623758	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:124623758G>A	ENST00000278927.5	-	7	1086	c.957C>T	c.(955-957)ctC>ctT	p.L319L	VSIG2_ENST00000326621.5_5'Flank|ESAM_ENST00000442070.2_Intron|VSIG2_ENST00000403470.1_5'Flank	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	319					blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGGGTGGCCGGAGGGCTCGTG	0.662																																						uc001qav.3		NaN																	0					0						c.(955-957)CTC>CTT		endothelial cell adhesion molecule precursor							64.0	74.0	71.0					11																	124623758		2201	4299	6500	SO:0001819	synonymous_variant	90952				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction		g.chr11:124623758G>A	AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.957C>T	11.37:g.124623758G>A						VSIG2_uc001qas.2_5'Flank|VSIG2_uc001qat.2_5'Flank|ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_Silent_p.L246L|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.S318F	p.L319L	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)	7	1130	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	319			Cytoplasmic (Potential).		B4DVN8|Q96T50	Silent	SNP	ENST00000278927.5	37	c.957C>T	CCDS8453.1																																																																																				0.662	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1		NM_138961		6	64	0	0	0	0.00308	0	6	64		
CACNA2D4	93589	broad.mit.edu	37	12	2017150	2017150	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:2017150G>A	ENST00000382722.5	-	5	902	c.540C>T	c.(538-540)ttC>ttT	p.F180F	CACNA2D4_ENST00000586184.1_Silent_p.F180F|CACNA2D4_ENST00000585732.1_Silent_p.F180F|CACNA2D4_ENST00000585708.1_Silent_p.F116F|CACNA2D4_ENST00000587995.1_Silent_p.F180F|CACNA2D4_ENST00000588077.1_Silent_p.F116F	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	180					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCAGCTCCACGAAGTTGCCCT	0.627																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2		NaN																	0				ovary(1)	1						c.(538-540)TTC>TTT		voltage-gated calcium channel alpha(2)delta-4							59.0	64.0	62.0					12																	2017150		2066	4210	6276	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2017150G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.540C>T	12.37:g.2017150G>A						CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.F180F	p.F180F	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	5	771	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	180			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.540C>T	CCDS44785.1																																																																																				0.627	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2				18	100	0	0	0	0.008871	0	18	100		
TEAD4	7004	broad.mit.edu	37	12	3104006	3104006	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:3104006C>T	ENST00000359864.2	+	3	264	c.74C>T	c.(73-75)tCt>tTt	p.S25F	TEAD4_ENST00000397122.2_Intron|TEAD4_ENST00000358409.2_Missense_Mutation_p.S25F	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	25					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			AGCACCGCCTCTGGGGGCAGT	0.647																																						uc010sej.1		NaN																	0					0						c.(70-72)TCT>TTT		TEA domain family member 4 isoform 1							78.0	82.0	81.0					12																	3104006		2203	4300	6503	SO:0001583	missense	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3104006C>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.74C>T	12.37:g.3104006C>T	ENSP00000352926:p.Ser25Phe					TEAD4_uc010sek.1_Missense_Mutation_p.S24F|TEAD4_uc001qln.2_Intron	p.S24F	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		3	348	+	Ovarian(42;0.211)		25					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000359864.2	37	c.71C>T	CCDS31729.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973548	0.74246	.	.	ENSG00000197905	ENST00000358409;ENST00000536826;ENST00000359864;ENST00000543035	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.34	5.34	0.76211	.	0.143302	0.50627	D	0.000106	T	0.44414	0.1292	L	0.54323	1.7	0.80722	D	1	D	0.61080	0.989	P	0.58331	0.837	T	0.37150	-0.9718	10	0.72032	D	0.01	-13.3727	11.5486	0.50708	0.0:0.919:0.0:0.081	.	25	Q15561	TEAD4_HUMAN	F	25	ENSP00000351184:S25F;ENSP00000438453:S25F;ENSP00000352926:S25F;ENSP00000444528:S25F	ENSP00000351184:S25F	S	+	2	0	TEAD4	2974267	0.997000	0.39634	0.998000	0.56505	0.760000	0.43138	2.368000	0.44222	2.513000	0.84729	0.650000	0.86243	TCT		0.647	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398475.1		NM_003213		27	202	0	0	0	0.004289	0	27	202		
CRACR2A	84766	broad.mit.edu	37	12	3789434	3789434	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:3789434G>C	ENST00000252322.1	-	5	778	c.310C>G	c.(310-312)Ctg>Gtg	p.L104V	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.L104V|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.L104V	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		104	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TGTGGGGTCAGATAGCCATTG	0.512																																						uc001qmj.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(310-312)CTG>GTG		EF-hand calcium binding domain 4B isoform c							126.0	100.0	109.0					12																	3789434		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3789434G>C																												ENST00000252322.1:c.310C>G	12.37:g.3789434G>C	ENSP00000252322:p.Leu104Val					EFCAB4B_uc010sen.1_Missense_Mutation_p.L104V|EFCAB4B_uc010seo.1_Missense_Mutation_p.L104V	p.L104V	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		5	882	-			104			EF-hand 2.|		B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.310C>G	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279542	0.80692	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.78364	-1.17;1.67;-1.17	4.69	4.69	0.59074	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	D	0.84647	0.5518	L	0.49778	1.585	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.86184	0.1608	10	0.87932	D	0	-18.6215	15.1607	0.72782	0.0:0.0:1.0:0.0	.	104;104;104	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	V	104	ENSP00000409382:L104V;ENSP00000412496:L104V;ENSP00000252322:L104V	ENSP00000252322:L104V	L	-	1	2	EFCAB4B	3659695	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.038000	0.93771	2.460000	0.83146	0.561000	0.74099	CTG		0.512	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1				15	97	0	0	0	0.010504	0	15	97		
CHD4	1108	broad.mit.edu	37	12	6692090	6692090	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:6692090G>A	ENST00000357008.2	-	28	4323	c.4160C>T	c.(4159-4161)cCc>cTc	p.P1387L	CHD4_ENST00000309577.6_Missense_Mutation_p.P1415L|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Missense_Mutation_p.P1412L|CHD4_ENST00000544040.1_Missense_Mutation_p.P1380L|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000540960.1_5'UTR	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1387					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CTTACGACTGGGCCTACGGGG	0.448																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NaN																	0				central_nervous_system(2)	2						c.(4159-4161)CCC>CTC		chromodomain helicase DNA binding protein 4							104.0	108.0	106.0					12																	6692090		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6692090G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4160C>T	12.37:g.6692090G>A	ENSP00000349508:p.Pro1387Leu					CHD4_uc001qpn.2_Missense_Mutation_p.P1380L|CHD4_uc001qpp.2_Missense_Mutation_p.P1412L|uc001qpq.1_Missense_Mutation_p.G98E|SCARNA11_uc001qpr.1_5'Flank	p.P1387L	NM_001273	NP_001264	Q14839	CHD4_HUMAN			28	4324	-			1387					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4160C>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207484	0.58343	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90385	-2.66;-2.59;-2.66;-2.59	5.96	5.96	0.96718	Domain of unknown function DUF1086 (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	L	0.38175	1.15	0.80722	D	1	P;P;D	0.89917	0.887;0.633;1.0	B;B;D	0.83275	0.427;0.378;0.996	D	0.91538	0.5247	10	0.34782	T	0.22	-7.0784	20.422	0.99049	0.0:0.0:1.0:0.0	.	1415;1387;1380	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	L	1412;1380;1415;1387;1361	ENSP00000440392:P1412L;ENSP00000440542:P1380L;ENSP00000312419:P1415L;ENSP00000349508:P1387L	ENSP00000312419:P1415L	P	-	2	0	CHD4	6562351	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.498000	0.81546	2.832000	0.97577	0.655000	0.94253	CCC		0.448	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273		18	89	0	0	0	0.006122	0	18	89		
CD163L1	283316	broad.mit.edu	37	12	7527246	7527246	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:7527246C>G	ENST00000313599.3	-	13	3258	c.3201G>C	c.(3199-3201)ctG>ctC	p.L1067L	CD163L1_ENST00000396630.1_Silent_p.L1067L|CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Silent_p.L1077L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1067	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.L1067L(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GGGCATCGCTCAGGTCCCAGC	0.622											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qsy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(3199-3201)CTG>CTC		scavenger receptor cysteine-rich type 1							71.0	63.0	65.0					12																	7527246		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7527246C>G	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3201G>C	12.37:g.7527246C>G			OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	642	CD163L1_uc010sge.1_Silent_p.L1077L	p.L1067L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			13	3227	-			1067			SRCR 10.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.3201G>C	CCDS8577.1																																																																																				0.622	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1		NM_174941		13	81	0	0	0	0.00245	0	13	81		
RIMKLB	57494	broad.mit.edu	37	12	8866535	8866535	+	Missense_Mutation	SNP	G	G	A	rs377131188		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:8866535G>A	ENST00000538135.1	+	2	898	c.73G>A	c.(73-75)Gag>Aag	p.E25K	RIMKLB_ENST00000535829.1_Missense_Mutation_p.E25K|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000357529.3_Missense_Mutation_p.E25K			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	25					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCCTCAAAAAGAGATTTTACG	0.478																																						uc001quu.2		NaN																	0					0						c.(73-75)GAG>AAG		ribosomal modification protein rimK-like family							138.0	141.0	140.0					12																	8866535		1978	4150	6128	SO:0001583	missense	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8866535G>A	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.73G>A	12.37:g.8866535G>A	ENSP00000440943:p.Glu25Lys					RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.E25K|RIMKLB_uc010sgl.1_Missense_Mutation_p.E25K|RIMKLB_uc001quw.2_Missense_Mutation_p.E25K	p.E25K	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN			2	324	+			25					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	c.73G>A	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963595	0.74016	.	.	ENSG00000166532	ENST00000541044;ENST00000539923;ENST00000537189;ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.54	5.54	0.83059	.	0.077421	0.52532	U	0.000062	T	0.51432	0.1674	N	0.22421	0.69	0.48341	D	0.99963	B;B	0.24920	0.114;0.042	B;B	0.21151	0.033;0.01	T	0.49476	-0.8936	9	0.54805	T	0.06	.	18.0417	0.89321	0.0:0.0:1.0:0.0	.	25;25	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	K	25;25;86;25;25;25	.	ENSP00000350136:E25K	E	+	1	0	RIMKLB	8757802	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.473000	0.73572	2.601000	0.87937	0.650000	0.86243	GAG		0.478	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1		NM_020734		7	39	0	0	0	0.006214	0	7	39		
CLEC1B	51266	broad.mit.edu	37	12	10149469	10149469	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:10149469C>A	ENST00000298527.6	-	4	593	c.414G>T	c.(412-414)ctG>ctT	p.L138L	CLEC1B_ENST00000348658.4_Silent_p.L105L|CLEC1B_ENST00000428126.2_Silent_p.L105L	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	138	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TGTCAATCTTCAGGAGAGTAG	0.398																																						uc001qwu.2		NaN																	0					0						c.(412-414)CTG>CTT		C-type lectin domain family 1, member B isoform							167.0	149.0	154.0					12																	10149469		1880	4123	6003	SO:0001819	synonymous_variant	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10149469C>A	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.414G>T	12.37:g.10149469C>A						CLEC1B_uc009zhd.2_Silent_p.L105L	p.L138L	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN			4	614	-			138			C-type lectin.|Extracellular (Potential).		Q6UWX7|Q8NHR6	Silent	SNP	ENST00000298527.6	37	c.414G>T	CCDS41752.1																																																																																				0.398	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1		NM_016509		9	74	1	0	3.86212e-05	0.008291	3.98512e-05	9	74		
WBP11	51729	broad.mit.edu	37	12	14946788	14946788	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:14946788G>C	ENST00000261167.2	-	8	1023	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	264	Asp-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TGCTTATCTTGATCCATGTCC	0.463																																						uc001rci.2		NaN																	0				ovary(1)|lung(1)	2						c.(790-792)CAA>GAA		WW domain binding protein 11							255.0	211.0	225.0					12																	14946788		2203	4300	6503	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14946788G>C	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.790C>G	12.37:g.14946788G>C	ENSP00000261167:p.Gln264Glu						p.Q264E	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN			8	951	-			264			Asp-rich.		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.790C>G	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801262	0.31869	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	D	0.89196	-2.48	5.38	5.38	0.77491	.	0.339482	0.30940	N	0.008575	D	0.91825	0.7413	M	0.64997	1.995	0.46609	D	0.999129	P	0.34587	0.458	P	0.48654	0.585	D	0.91828	0.5473	10	0.62326	D	0.03	-21.8566	16.6127	0.84892	0.0:0.0:1.0:0.0	.	264	Q9Y2W2	WBP11_HUMAN	E	264	ENSP00000442868:Q264E	ENSP00000261167:Q264E	Q	-	1	0	WBP11	14838055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.753000	0.62183	2.536000	0.85505	0.655000	0.94253	CAA		0.463	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1		NM_016312		15	136	0	0	0	0.00499	0	15	136		
AEBP2	121536	broad.mit.edu	37	12	19593295	19593295	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:19593295C>A	ENST00000398864.3	+	1	688	c.662C>A	c.(661-663)tCg>tAg	p.S221*	AEBP2_ENST00000541908.1_Intron|AEBP2_ENST00000266508.9_Nonsense_Mutation_p.S221*|AEBP2_ENST00000360995.4_5'Flank	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	221	Interaction with RBBP4.|Ser-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					CGCATGGACTCGGAGGACAGG	0.677																																						uc001ref.2		NaN																	0				ovary(1)	1						c.(661-663)TCG>TAG		AE binding protein 2 isoform b							28.0	32.0	31.0					12																	19593295		1661	3738	5399	SO:0001587	stop_gained	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19593295C>A		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.662C>A	12.37:g.19593295C>A	ENSP00000381840:p.Ser221*					AEBP2_uc001ree.2_Nonsense_Mutation_p.S221*|AEBP2_uc001reg.1_5'Flank	p.S221*	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN			1	688	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		221			Ser-rich.|Interaction with RBBP4.		Q59FS5|Q6ZN62|Q96BG3	Nonsense_Mutation	SNP	ENST00000398864.3	37	c.662C>A	CCDS44841.1	.	.	.	.	.	.	.	.	.	.	C	38	6.921591	0.97936	.	.	ENSG00000139154	ENST00000398864;ENST00000435841;ENST00000266508	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3335	14.2671	0.66126	0.0:1.0:0.0:0.0	.	.	.	.	X	221;155;221	.	ENSP00000266508:S221X	S	+	2	0	AEBP2	19484562	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.925000	0.70062	1.991000	0.58162	0.511000	0.50034	TCG		0.677	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1		NM_153207		5	68	1	0	8.12818e-05	0.001984	8.37371e-05	5	68		
SLCO1B1	10599	broad.mit.edu	37	12	21392055	21392055	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:21392055T>A	ENST00000256958.2	+	15	2104	c.2008T>A	c.(2008-2010)Tta>Ata	p.L670I		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	670					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TGAAGCAAACTTAGAATCCTT	0.318																																						uc001req.3		NaN																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(2008-2010)TTA>ATA		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						47.0	52.0	50.0					12																	21392055		2202	4300	6502	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21392055T>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.2008T>A	12.37:g.21392055T>A	ENSP00000256958:p.Leu670Ile						p.L670I	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			15	2112	+			670			Cytoplasmic (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.2008T>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.152533	0.38021	.	.	ENSG00000134538	ENST00000256958	T	0.37752	1.18	3.17	-0.708	0.11241	.	3.448920	0.00610	N	0.000409	T	0.32346	0.0826	L	0.58101	1.795	0.09310	N	1	B	0.28552	0.215	B	0.25614	0.062	T	0.11179	-1.0598	10	0.42905	T	0.14	.	2.1656	0.03836	0.234:0.2922:0.0:0.4738	.	670	Q9Y6L6	SO1B1_HUMAN	I	670	ENSP00000256958:L670I	ENSP00000256958:L670I	L	+	1	2	SLCO1B1	21283322	0.032000	0.19561	0.084000	0.20598	0.653000	0.38743	-0.159000	0.10056	-0.138000	0.11434	0.260000	0.18958	TTA		0.318	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1		NM_006446		3	13	0	0	0	0.009096	0	3	13		
ITPR2	3709	broad.mit.edu	37	12	26589263	26589263	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:26589263G>A	ENST00000381340.3	-	48	7076	c.6660C>T	c.(6658-6660)ttC>ttT	p.F2220F		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2220					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCGAGAACCAGAACAGTGCAG	0.418																																						uc001rhg.2		NaN																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(6658-6660)TTC>TTT		inositol 1,4,5-triphosphate receptor, type 2							69.0	71.0	70.0					12																	26589263		1922	4122	6044	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26589263G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6660C>T	12.37:g.26589263G>A						ITPR2_uc009zjg.1_Silent_p.F371F	p.F2220F	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			48	7077	-	Colorectal(261;0.0847)		2220			Cytoplasmic (Potential).		O94773	Silent	SNP	ENST00000381340.3	37	c.6660C>T	CCDS41764.1																																																																																				0.418	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223		4	45	0	0	0	0.000602	0	4	45		
ARNTL2	56938	broad.mit.edu	37	12	27523108	27523108	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:27523108C>T	ENST00000266503.5	+	3	247	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S	ARNTL2_ENST00000542388.1_Intron|ARNTL2_ENST00000546179.1_Intron|ARNTL2_ENST00000261178.5_Intron|ARNTL2_ENST00000395901.2_Intron|ARNTL2_ENST00000539558.1_3'UTR|ARNTL2_ENST00000544915.1_Intron|ARNTL2_ENST00000311001.5_Missense_Mutation_p.P77S			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	77	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TTCTCAGAATCCCCTTACCTA	0.483																																						uc001rht.1		NaN																	0				ovary(1)|skin(1)	2						c.(229-231)CCC>TCC		aryl hydrocarbon receptor nuclear							155.0	150.0	152.0					12																	27523108		2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27523108C>T	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.229C>T	12.37:g.27523108C>T	ENSP00000266503:p.Pro77Ser					ARNTL2_uc001rhw.2_Intron|ARNTL2_uc010sjp.1_Intron|ARNTL2_uc001rhu.1_Missense_Mutation_p.P77S|ARNTL2_uc009zji.1_Intron|ARNTL2_uc001rhv.1_Intron	p.P77S	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN			3	247	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		77					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.229C>T	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999437	0.35320	.	.	ENSG00000029153	ENST00000311001;ENST00000266503	T;T	0.05580	3.42;3.46	3.13	3.13	0.36017	.	3.044690	0.01419	N	0.014289	T	0.06416	0.0165	L	0.27053	0.805	0.80722	D	1	P;B	0.40731	0.728;0.421	B;B	0.35770	0.21;0.083	T	0.42783	-0.9431	10	0.30854	T	0.27	.	10.0132	0.41999	0.0:1.0:0.0:0.0	.	77;77	Q8WYA1-2;Q8WYA1	.;BMAL2_HUMAN	S	77	ENSP00000312247:P77S;ENSP00000266503:P77S	ENSP00000266503:P77S	P	+	1	0	ARNTL2	27414375	0.181000	0.23161	0.516000	0.27786	0.972000	0.66771	2.096000	0.41738	2.048000	0.60808	0.585000	0.79938	CCC		0.483	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1		NM_020183		14	91	0	0	0	0.007413	0	14	91		
BICD1	636	broad.mit.edu	37	12	32480797	32480797	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:32480797G>C	ENST00000281474.5	+	5	1511	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	BICD1_ENST00000548411.1_Missense_Mutation_p.E470Q	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	470					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GACAAGCCTTGAGAAGACCAC	0.418																																						uc001rku.2		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1408-1410)GAG>CAG		bicaudal D homolog 1 isoform 1							96.0	83.0	87.0					12																	32480797		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32480797G>C	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1408G>C	12.37:g.32480797G>C	ENSP00000281474:p.Glu470Gln					BICD1_uc001rkv.2_Missense_Mutation_p.E470Q|BICD1_uc010skd.1_RNA	p.E470Q	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	1489	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		470			Potential.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1408G>C	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406778	0.62399	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.52295	0.67;0.67	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.72415	0.3457	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.69698	-0.5075	10	0.24483	T	0.36	.	19.543	0.95281	0.0:0.0:1.0:0.0	.	470;470	F8W113;Q96G01	.;BICD1_HUMAN	Q	470	ENSP00000446793:E470Q;ENSP00000281474:E470Q	ENSP00000281474:E470Q	E	+	1	0	BICD1	32372064	1.000000	0.71417	0.990000	0.47175	0.904000	0.53231	7.776000	0.85560	2.617000	0.88574	0.655000	0.94253	GAG		0.418	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1		NM_001714		3	40	0	0	0	0.004672	0	3	40		
ARID2	196528	broad.mit.edu	37	12	46245498	46245498	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:46245498C>G	ENST00000334344.6	+	15	3764	c.3592C>G	c.(3592-3594)Cca>Gca	p.P1198A	ARID2_ENST00000444670.1_Missense_Mutation_p.P808A|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Missense_Mutation_p.P1049A|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1198					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1198A(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCTCATTGCTCCAGCAGGAAT	0.498			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NaN		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(3592-3594)CCA>GCA		AT rich interactive domain 2 (ARID, RFX-like)							71.0	68.0	69.0					12																	46245498		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245498C>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3592C>G	12.37:g.46245498C>G	ENSP00000335044:p.Pro1198Ala					ARID2_uc001ror.2_Missense_Mutation_p.P1198A|ARID2_uc009zkg.1_Missense_Mutation_p.P654A|ARID2_uc009zkh.1_Missense_Mutation_p.P825A|ARID2_uc001rou.1_Missense_Mutation_p.P532A	p.P1198A	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3592	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1198					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3592C>G	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	8.381	0.837634	0.16891	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.35421	1.31	6.17	4.35	0.52113	.	0.225505	0.45867	D	0.000337	T	0.44095	0.1277	L	0.29908	0.895	0.80722	D	1	B;D;B	0.63880	0.144;0.993;0.026	B;D;B	0.63488	0.066;0.915;0.018	T	0.34030	-0.9845	10	0.54805	T	0.06	-4.915	11.9676	0.53044	0.1221:0.8152:0.0:0.0627	.	1198;808;1198	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	A	1198;315;315;1049;808	ENSP00000335044:P1198A	ENSP00000335044:P1198A	P	+	1	0	ARID2	44531765	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	4.220000	0.58567	0.931000	0.37242	0.655000	0.94253	CCA		0.498	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875		5	51	0	0	0	0.000602	0	5	51		
H1FNT	341567	broad.mit.edu	37	12	48723735	48723735	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:48723735G>A	ENST00000335017.1	+	1	973	c.661G>A	c.(661-663)Gtg>Atg	p.V221M		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	221					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						AGGACAGGCCGTGAAGGAAGA	0.662																																						uc001rrm.2		NaN																	0				pancreas(1)	1						c.(661-663)GTG>ATG		H1 histone family, member N, testis-specific							57.0	63.0	61.0					12																	48723735		2190	4292	6482	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723735G>A	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.661G>A	12.37:g.48723735G>A	ENSP00000334805:p.Val221Met						p.V221M	NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN			1	973	+			221					Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.661G>A	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378829	0.24944	.	.	ENSG00000187166	ENST00000335017	T	0.19105	2.17	4.55	-9.1	0.00714	.	.	.	.	.	T	0.06735	0.0172	N	0.14661	0.345	0.09310	N	1	B	0.22604	0.072	B	0.13407	0.009	T	0.26883	-1.0090	9	0.15499	T	0.54	.	0.8475	0.01165	0.1741:0.3045:0.2344:0.287	.	221	Q75WM6	H1FNT_HUMAN	M	221	ENSP00000334805:V221M	ENSP00000334805:V221M	V	+	1	0	H1FNT	47010002	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.773000	0.04689	-2.635000	0.00432	-0.302000	0.09304	GTG		0.662	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1		NM_181788		4	16	0	0	0	0.009096	0	4	16		
TUBA1A	7846	broad.mit.edu	37	12	49579554	49579554	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:49579554C>T	ENST00000295766.5	-	4	1074	c.595G>A	c.(595-597)Gat>Aat	p.D199N	TUBA1A_ENST00000546918.1_3'UTR|TUBA1A_ENST00000550767.1_Missense_Mutation_p.D164N|TUBA1A_ENST00000301071.7_Missense_Mutation_p.D199N	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	199					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	AAGGCACAATCAGAGTGCTCC	0.498																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	uc009zlf.2		NaN																	0					0						c.(595-597)GAT>AAT		tubulin, alpha 1a							59.0	57.0	57.0					12																	49579554		2203	4297	6500	SO:0001583	missense	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49579554C>T	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.595G>A	12.37:g.49579554C>T	ENSP00000439020:p.Asp199Asn					TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.D199N|TUBA1A_uc001rtq.2_Missense_Mutation_p.D46N|TUBA1A_uc001rtr.2_Missense_Mutation_p.D46N|TUBA1A_uc009zlg.2_Missense_Mutation_p.D46N	p.D199N	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN			4	867	-			199					A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	c.595G>A	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586627	0.66105	.	.	ENSG00000167552	ENST00000301071;ENST00000548405;ENST00000295766;ENST00000550767;ENST00000547939	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.25	5.25	0.73442	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000001	D	0.92577	0.7642	H	0.94808	3.585	0.80722	D	1	D	0.62365	0.991	D	0.74348	0.983	D	0.94528	0.7733	10	0.87932	D	0	.	17.6261	0.88095	0.0:1.0:0.0:0.0	.	199	Q71U36	TBA1A_HUMAN	N	199;46;199;164;164	ENSP00000301071:D199N;ENSP00000439020:D199N;ENSP00000446637:D164N;ENSP00000450268:D164N	ENSP00000439020:D199N	D	-	1	0	TUBA1A	47865821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.334000	0.79224	2.443000	0.82685	0.462000	0.41574	GAT		0.498	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2		NM_006009		12	103	0	0	0	0.001855	0	12	103		
KCNH3	23416	broad.mit.edu	37	12	49934725	49934725	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:49934725C>T	ENST00000257981.6	+	2	380	c.120C>T	c.(118-120)ttC>ttT	p.F40F		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	40	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CGGGGCTCTTCCCCGTGGTCT	0.632																																						uc001ruh.1		NaN																	0					0						c.(118-120)TTC>TTT		potassium voltage-gated channel, subfamily H							64.0	63.0	63.0					12																	49934725		2203	4300	6503	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49934725C>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.120C>T	12.37:g.49934725C>T						KCNH3_uc010smj.1_5'UTR	p.F40F	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			2	380	+			40			Cytoplasmic (Potential).|PAS.		Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.120C>T	CCDS8786.1																																																																																				0.632	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2		NM_012284		9	72	0	0	0	0.001368	0	9	72		
KCNH3	23416	broad.mit.edu	37	12	49935417	49935417	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:49935417C>A	ENST00000257981.6	+	3	575	c.315C>A	c.(313-315)ctC>ctA	p.L105L	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	105	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCCCAGGGCTCCCGTTCTGGT	0.547																																						uc001ruh.1		NaN																	0					0						c.(313-315)CTC>CTA		potassium voltage-gated channel, subfamily H							178.0	187.0	184.0					12																	49935417		2203	4300	6503	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49935417C>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.315C>A	12.37:g.49935417C>A						KCNH3_uc010smj.1_Silent_p.L45L	p.L105L	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			3	575	+			105			PAC.|Cytoplasmic (Potential).		Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.315C>A	CCDS8786.1																																																																																				0.547	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2		NM_012284		16	151	1	0	2.35188e-11	0.006122	2.50044e-11	16	151		
LIMA1	51474	broad.mit.edu	37	12	50616148	50616148	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:50616148C>A	ENST00000341247.4	-	4	435	c.286G>T	c.(286-288)Gag>Tag	p.E96*	LIMA1_ENST00000552909.1_5'Flank|LIMA1_ENST00000552823.1_5'Flank|LIMA1_ENST00000552008.1_5'Flank|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Nonsense_Mutation_p.E96*|RP3-405J10.4_ENST00000551284.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	96					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TGCCTAATCTCAGTGCTGCTG	0.527																																						uc001rwj.3		NaN																	0				ovary(1)	1						c.(286-288)GAG>TAG		LIM domain and actin binding 1 isoform b							185.0	154.0	164.0					12																	50616148		2203	4300	6503	SO:0001587	stop_gained	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50616148C>A	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.286G>T	12.37:g.50616148C>A	ENSP00000340184:p.Glu96*					LIMA1_uc001rwh.3_5'UTR|LIMA1_uc001rwi.3_5'UTR|LIMA1_uc001rwk.3_Nonsense_Mutation_p.E96*|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.E96*	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			4	460	-			96					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Nonsense_Mutation	SNP	ENST00000341247.4	37	c.286G>T	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945458	0.73672	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691;ENST00000550592	.	.	.	5.53	3.68	0.42216	.	0.633028	0.16889	N	0.195366	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	15.6781	0.77344	0.0:0.6607:0.3393:0.0	.	.	.	.	X	96	.	ENSP00000340184:E96X	E	-	1	0	LIMA1	48902415	0.995000	0.38212	0.090000	0.20809	0.819000	0.46315	1.895000	0.39778	0.857000	0.35407	0.655000	0.94253	GAG		0.527	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2		NM_016357		16	173	1	0	4.96729e-08	0.008871	5.21686e-08	16	173		
KRT6B	3854	broad.mit.edu	37	12	52845454	52845454	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:52845454C>G	ENST00000252252.3	-	1	456	c.409G>C	c.(409-411)Gag>Cag	p.E137Q		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	137	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.E137Q(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		ACAGTGACCTCTTGGATGCCT	0.642																																						uc001sak.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(409-411)GAG>CAG		keratin 6B							127.0	170.0	156.0					12																	52845454		2201	4300	6501	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52845454C>G	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.409G>C	12.37:g.52845454C>G	ENSP00000252252:p.Glu137Gln						p.E137Q	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	1	457	-			137			Head.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.409G>C	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681518	0.47991	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.91792	-2.91	3.28	3.28	0.37604	.	0.000000	0.64402	D	0.000010	D	0.90120	0.6913	L	0.53561	1.675	0.38951	D	0.958356	P	0.45212	0.853	B	0.44163	0.443	D	0.89290	0.3618	10	0.23302	T	0.38	.	15.9007	0.79373	0.0:1.0:0.0:0.0	.	137	P04259	K2C6B_HUMAN	Q	137	ENSP00000252252:E137Q	ENSP00000252252:E137Q	E	-	1	0	KRT6B	51131721	.	.	1.000000	0.80357	0.926000	0.56050	.	.	2.160000	0.67779	0.298000	0.19748	GAG		0.642	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1		NM_005555		12	176	0	0	0	0.003163	0	12	176		
KRT6A	3853	broad.mit.edu	37	12	52886480	52886480	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:52886480C>T	ENST00000330722.6	-	1	561	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	165	Coil 1A.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGATCTGTTCACGCTCCTCA	0.592																																						uc001sam.2		NaN																	0				ovary(4)|skin(1)	5						c.(493-495)GAA>AAA		keratin 6A							179.0	164.0	169.0					12																	52886480		2203	4300	6503	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52886480C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.493G>A	12.37:g.52886480C>T	ENSP00000369317:p.Glu165Lys						p.E165K	NM_005554	NP_005545	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	702	-			165			Coil 1A.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.493G>A	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519535	0.96416	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.91631	-2.88	5.31	5.31	0.75309	Filament (1);	0.000000	0.64402	D	0.000011	D	0.96642	0.8904	M	0.89287	3.02	0.58432	D	0.999999	D	0.69078	0.997	D	0.67382	0.951	D	0.97099	0.9796	10	0.87932	D	0	.	19.3675	0.94469	0.0:1.0:0.0:0.0	.	165	P02538	K2C6A_HUMAN	K	165;121	ENSP00000369317:E165K	ENSP00000369317:E165K	E	-	1	0	KRT6A	51172747	1.000000	0.71417	0.956000	0.39512	0.959000	0.62525	7.724000	0.84798	2.652000	0.90054	0.650000	0.86243	GAA		0.592	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2		NM_005554		41	290	0	0	0	0.00361	0	41	290		
RARG	5916	broad.mit.edu	37	12	53607028	53607028	+	Splice_Site	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:53607028C>T	ENST00000425354.2	-	9	1506		c.e9-1		RARG_ENST00000543762.1_Splice_Site|RARG_ENST00000543726.1_Splice_Site|RARG_ENST00000327550.3_Splice_Site|RARG_ENST00000394426.1_Splice_Site|RARG_ENST00000338561.5_Splice_Site	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma						anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCCATGCGGTCTATGGGGACA	0.607											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sce.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.e9-1		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						33.0	36.0	35.0					12																	53607028		2203	4300	6503	SO:0001630	splice_region_variant	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607028C>T	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.1019-1G>A	12.37:g.53607028C>T			OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_uc001scd.2_Splice_Site_p.D329_splice|RARG_uc010sob.1_Splice_Site_p.D318_splice|RARG_uc001scf.2_Splice_Site_p.D340_splice|RARG_uc001scg.2_Splice_Site_p.D268_splice|RARG_uc010soc.1_Splice_Site_p.D219_splice|RARG_uc010sod.1_3'UTR	p.D340_splice	NM_000966	NP_000957	P13631	RARG_HUMAN			9	1504	-								B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Splice_Site	SNP	ENST00000425354.2	37	c.1019_splice	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678075	0.68042	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0691	0.86568	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RARG	51893295	1.000000	0.71417	0.997000	0.53966	0.719000	0.41307	7.794000	0.85869	2.643000	0.89663	0.462000	0.41574	.		0.607	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		NM_000966	Intron	7	64	0	0	0	0.008291	0	7	64		
NPFF	8620	broad.mit.edu	37	12	53897505	53897505	+	IGR	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:53897505C>T	ENST00000267017.3	-	0	592				TARBP2_ENST00000456234.2_Missense_Mutation_p.S91F|TARBP2_ENST00000394357.2_Missense_Mutation_p.S91F|TARBP2_ENST00000552857.1_Missense_Mutation_p.S21F|RP11-793H13.11_ENST00000602306.1_RNA|TARBP2_ENST00000266987.2_Missense_Mutation_p.S112F	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						AGTTCTTTTTCTCCCCTAGAC	0.562																																						uc001sdo.2		NaN																	0				central_nervous_system(1)	1						c.(334-336)TCT>TTT		TAR RNA binding protein 2 isoform a							106.0	109.0	108.0					12																	53897505		2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53897505C>T	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53897505C>T						TARBP2_uc009znb.2_Missense_Mutation_p.S112F|TARBP2_uc001sdp.2_Missense_Mutation_p.S91F|TARBP2_uc001sdq.2_5'UTR|TARBP2_uc001sdr.2_Intron|TARBP2_uc001sds.2_Missense_Mutation_p.S112F|TARBP2_uc001sdt.2_Missense_Mutation_p.S91F|TARBP2_uc001sdu.2_Intron|TARBP2_uc001sdv.2_RNA	p.S112F	NM_134323	NP_599150	Q15633	TRBP2_HUMAN			4	823	+			112					Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.335C>T	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306516	0.60305	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000552857;ENST00000549610;ENST00000394357;ENST00000550407	T;T;T	0.65549	-0.16;-0.16;-0.16	3.83	3.83	0.44106	.	0.833712	0.10282	U	0.693376	T	0.61825	0.2378	N	0.08118	0	0.47621	D	0.999476	D;D;B	0.65815	0.991;0.995;0.438	D;D;B	0.78314	0.991;0.979;0.108	T	0.62487	-0.6844	10	0.56958	D	0.05	-11.0688	11.521	0.50551	0.0:1.0:0.0:0.0	.	112;112;112	F8VWR8;A8K3X2;Q15633	.;.;TRBP2_HUMAN	F	112;91;21;112;91;13	ENSP00000266987:S112F;ENSP00000416077:S91F;ENSP00000377885:S91F	ENSP00000266987:S112F	S	+	2	0	TARBP2	52183772	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.180000	0.50895	2.430000	0.82344	0.591000	0.81541	TCT		0.562	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1		NM_003717		10	106	0	0	0	0.001368	0	10	106		
NPFF	8620	broad.mit.edu	37	12	53900643	53900643	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:53900643C>T	ENST00000267017.3	-	3	422	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	RP11-793H13.10_ENST00000591834.1_Silent_p.*464*|NPFF_ENST00000609999.1_Missense_Mutation_p.E90K	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	87					acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CTCAGCCATTCATTCCTCCAG	0.552																																						uc001sdw.1		NaN																	0					0						c.(259-261)GAA>AAA		neuropeptide FF-amide peptide preproprotein							114.0	120.0	118.0					12																	53900643		2203	4300	6503	SO:0001583	missense	8620				neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr12:53900643C>T	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856	ENST00000267017.3:c.259G>A	12.37:g.53900643C>T	ENSP00000267017:p.Glu87Lys						p.E87K	NM_003717	NP_003708	O15130	NPFF_HUMAN			3	423	-			87					Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.259G>A	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745554	0.30955	.	.	ENSG00000139574	ENST00000267017	T	0.53640	0.61	4.59	-6.15	0.02105	.	0.877259	0.09826	N	0.750821	T	0.25865	0.0630	N	0.20401	0.57	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.18429	-1.0337	10	0.33940	T	0.23	-0.0332	8.246	0.31689	0.0:0.1497:0.3282:0.5221	.	87	O15130	NPFF_HUMAN	K	87	ENSP00000267017:E87K	ENSP00000267017:E87K	E	-	1	0	NPFF	52186910	0.000000	0.05858	0.000000	0.03702	0.792000	0.44763	-1.345000	0.02637	-0.985000	0.03503	0.491000	0.48974	GAA		0.552	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1		NM_003717		31	195	0	0	0	0.005524	0	31	195		
ITGA5	3678	broad.mit.edu	37	12	54795249	54795249	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:54795249C>T	ENST00000293379.4	-	24	2662	c.2401G>A	c.(2401-2403)Gag>Aag	p.E801K	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	801					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGCACTGCCTCAGGCTTGGAG	0.567																																						uc001sga.2		NaN																	0				ovary(2)	2						c.(2401-2403)GAG>AAG		integrin alpha 5 precursor							115.0	116.0	116.0					12																	54795249		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54795249C>T		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2401G>A	12.37:g.54795249C>T	ENSP00000293379:p.Glu801Lys						p.E801K	NM_002205	NP_002196	P08648	ITA5_HUMAN			24	2469	-			801			Extracellular (Potential).		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.2401G>A	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130132	0.77549	.	.	ENSG00000161638	ENST00000293379	T	0.52295	0.67	4.45	4.45	0.53987	Integrin alpha-2 (1);	0.053416	0.64402	D	0.000001	T	0.50769	0.1635	L	0.53249	1.67	0.52099	D	0.999948	D	0.55172	0.97	P	0.50192	0.634	T	0.48502	-0.9030	10	0.36615	T	0.2	.	13.3078	0.60363	0.0:1.0:0.0:0.0	.	801	P08648	ITA5_HUMAN	K	801	ENSP00000293379:E801K	ENSP00000293379:E801K	E	-	1	0	ITGA5	53081516	0.997000	0.39634	0.932000	0.37286	0.986000	0.74619	5.765000	0.68834	2.418000	0.82041	0.563000	0.77884	GAG		0.567	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1				27	183	0	0	0	0.00632	0	27	183		
OR6C3	254786	broad.mit.edu	37	12	55726281	55726281	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:55726281C>T	ENST00000379667.1	+	1	797	c.797C>T	c.(796-798)tCa>tTa	p.S266L		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	266					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GAAAAGGCATCATTGACAAAA	0.383																																						uc010spj.1		NaN																	0				skin(1)	1						c.(796-798)TCA>TTA		olfactory receptor, family 6, subfamily C,							95.0	92.0	93.0					12																	55726281		2203	4300	6503	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55726281C>T	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.797C>T	12.37:g.55726281C>T	ENSP00000368989:p.Ser266Leu						p.S266L	NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN			1	797	+			266			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000379667.1	37	c.797C>T	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	C	8.963	0.970974	0.18659	.	.	ENSG00000205329	ENST00000379667	T	0.00169	8.63	5.13	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40222	N	0.001147	T	0.00144	0.0004	L	0.35593	1.075	0.09310	N	1	B	0.15473	0.013	B	0.25614	0.062	T	0.48948	-0.8989	10	0.62326	D	0.03	.	3.4649	0.07547	0.2219:0.588:0.0:0.1902	.	266	Q9NZP0	OR6C3_HUMAN	L	266	ENSP00000368989:S266L	ENSP00000368989:S266L	S	+	2	0	OR6C3	54012548	0.000000	0.05858	0.015000	0.15790	0.007000	0.05969	0.634000	0.24614	2.815000	0.96918	0.650000	0.86243	TCA		0.383	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1				4	34	0	0	0	0.009096	0	4	34		
COQ10A	93058	broad.mit.edu	37	12	56663988	56663988	+	Missense_Mutation	SNP	G	G	C	rs375511213		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:56663988G>C	ENST00000308197.5	+	5	892	c.631G>C	c.(631-633)Gat>Cat	p.D211H	COQ10A_ENST00000546544.1_Missense_Mutation_p.D194H|COQ10A_ENST00000433805.2_Missense_Mutation_p.D179H|RP11-977G19.14_ENST00000546464.1_RNA	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	211						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						CATGTTTTTTGATGAGGTTGT	0.493																																						uc001sko.3		NaN																	0				ovary(1)	1						c.(631-633)GAT>CAT		coenzyme Q10 homolog A isoform a							196.0	191.0	192.0					12																	56663988		1981	4144	6125	SO:0001583	missense	93058					mitochondrial inner membrane		g.chr12:56663988G>C	AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog A (yeast)"""				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.631G>C	12.37:g.56663988G>C	ENSP00000312587:p.Asp211His					COQ10A_uc001skp.3_Missense_Mutation_p.D179H|COQ10A_uc001skq.3_Missense_Mutation_p.D194H	p.D211H	NM_144576	NP_653177	Q96MF6	CQ10A_HUMAN			5	892	+			211					Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Missense_Mutation	SNP	ENST00000308197.5	37	c.631G>C	CCDS41796.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.760542|4.760542	0.89932|0.89932	.|.	.|.	ENSG00000135469|ENSG00000135469	ENST00000308197;ENST00000433805;ENST00000546544|ENST00000553234;ENST00000551814	T;T;T|.	0.27557|.	1.66;1.71;1.67|.	4.96|4.96	4.96|4.96	0.65561|0.65561	START-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83087|0.83087	0.5178|0.5178	M|M	0.87682|0.87682	2.9|2.9	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.997;0.998;0.998|.	D|D	0.85308|0.85308	0.1077|0.1077	10|5	0.87932|.	D|.	0|.	.|.	17.5173|17.5173	0.87777|0.87777	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	194;216;211|.	Q96MF6-2;Q8TAL2;Q96MF6|.	.;.;CQ10A_HUMAN|.	H|F	211;179;194|116;27	ENSP00000312587:D211H;ENSP00000407843:D179H;ENSP00000446723:D194H|.	ENSP00000312587:D211H|.	D|L	+|+	1|3	0|2	COQ10A|COQ10A	54950255|54950255	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	7.416000|7.416000	0.80143|0.80143	2.746000|2.746000	0.94184|0.94184	0.655000|0.655000	0.94253|0.94253	GAT|TTG		0.493	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1		NM_144576		27	204	0	0	0	0.003271	0	27	204		
TIMELESS	8914	broad.mit.edu	37	12	56816720	56816720	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:56816720G>C	ENST00000553532.1	-	19	2499	c.2349C>G	c.(2347-2349)gtC>gtG	p.V783V	TIMELESS_ENST00000229201.4_Silent_p.V782V|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTTTTTGGTTGACTGCAGCCA	0.493																																						uc001slf.2		NaN																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(2347-2349)GTC>GTG		timeless homolog							90.0	93.0	92.0					12																	56816720		2203	4300	6503	SO:0001819	synonymous_variant	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56816720G>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2349C>G	12.37:g.56816720G>C							p.V783V	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			19	2517	-			783						Silent	SNP	ENST00000553532.1	37	c.2349C>G	CCDS8918.1																																																																																				0.493	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1		NM_003920		6	85	0	0	0	0.00308	0	6	85		
TIMELESS	8914	broad.mit.edu	37	12	56817142	56817142	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:56817142G>C	ENST00000553532.1	-	18	2358	c.2208C>G	c.(2206-2208)ctC>ctG	p.L736L	TIMELESS_ENST00000229201.4_Silent_p.L735L|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTTCCATTTTGAGGTCATGGG	0.507																																						uc001slf.2		NaN																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(2206-2208)CTC>CTG		timeless homolog							148.0	136.0	140.0					12																	56817142		2203	4300	6503	SO:0001819	synonymous_variant	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56817142G>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2208C>G	12.37:g.56817142G>C							p.L736L	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			18	2376	-			736						Silent	SNP	ENST00000553532.1	37	c.2208C>G	CCDS8918.1																																																																																				0.507	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1		NM_003920		6	109	0	0	0	0.001984	0	6	109		
TIMELESS	8914	broad.mit.edu	37	12	56817207	56817207	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:56817207G>C	ENST00000553532.1	-	18	2293	c.2143C>G	c.(2143-2145)Cag>Gag	p.Q715E	TIMELESS_ENST00000229201.4_Missense_Mutation_p.Q714E|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTATTCTGCTGGTAGCTCCTT	0.488																																						uc001slf.2		NaN																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(2143-2145)CAG>GAG		timeless homolog							150.0	131.0	137.0					12																	56817207		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56817207G>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2143C>G	12.37:g.56817207G>C	ENSP00000450607:p.Gln715Glu						p.Q715E	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			18	2311	-			715						Missense_Mutation	SNP	ENST00000553532.1	37	c.2143C>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.864566	0.00547	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.05649	3.41;3.41	5.61	1.47	0.22746	.	0.806616	0.11849	N	0.523556	T	0.03871	0.0109	N	0.05078	-0.115	0.80722	D	1	B	0.14805	0.011	B	0.16289	0.015	T	0.45454	-0.9260	10	0.20046	T	0.44	-2.013	14.9907	0.71387	0.0:0.0:0.4506:0.5494	.	715	Q9UNS1	TIM_HUMAN	E	714;715	ENSP00000229201:Q714E;ENSP00000450607:Q715E	ENSP00000229201:Q715E	Q	-	1	0	TIMELESS	55103474	0.427000	0.25514	0.500000	0.27589	0.028000	0.11728	0.756000	0.26419	0.053000	0.16036	0.561000	0.74099	CAG		0.488	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1		NM_003920		5	103	0	0	0	0.000602	0	5	103		
TIMELESS	8914	broad.mit.edu	37	12	56827390	56827390	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:56827390G>A	ENST00000553532.1	-	4	448	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	TIMELESS_ENST00000229201.4_Silent_p.L100L|TIMELESS_ENST00000554616.1_Silent_p.L100L					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCCTTAGGCAGATTGCCAAAA	0.483																																						uc001slf.2		NaN																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(298-300)CTG>TTG		timeless homolog							81.0	86.0	84.0					12																	56827390		2203	4300	6503	SO:0001819	synonymous_variant	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56827390G>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.298C>T	12.37:g.56827390G>A						TIMELESS_uc001slg.2_Silent_p.L100L	p.L100L	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			4	466	-			100						Silent	SNP	ENST00000553532.1	37	c.298C>T	CCDS8918.1																																																																																				0.483	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1		NM_003920		14	80	0	0	0	0.00245	0	14	80		
STAT6	6778	broad.mit.edu	37	12	57501056	57501056	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:57501056G>C	ENST00000300134.3	-	4	622	c.297C>G	c.(295-297)ttC>ttG	p.F99L	STAT6_ENST00000454075.3_Missense_Mutation_p.F99L|STAT6_ENST00000556155.1_Missense_Mutation_p.F99L|STAT6_ENST00000543873.2_Missense_Mutation_p.F99L|STAT6_ENST00000538913.2_5'UTR|STAT6_ENST00000537215.2_5'UTR	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	99					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GTATTTGTCTGAAAGTGGCCA	0.478																																						uc009zpe.2		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(295-297)TTC>TTG		signal transducer and activator of transcription							120.0	124.0	123.0					12																	57501056		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57501056G>C	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.297C>G	12.37:g.57501056G>C	ENSP00000300134:p.Phe99Leu					STAT6_uc009zpf.2_Missense_Mutation_p.F99L|STAT6_uc001sna.2_Missense_Mutation_p.F99L|STAT6_uc010srb.1_5'UTR|STAT6_uc010src.1_5'UTR|STAT6_uc010srd.1_5'UTR|STAT6_uc009zpg.2_Missense_Mutation_p.F148L	p.F99L	NM_003153	NP_003144	P42226	STAT6_HUMAN			4	548	-			99					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.297C>G	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553007	0.45487	.	.	ENSG00000166888	ENST00000300134;ENST00000543873;ENST00000556155;ENST00000454075;ENST00000542516;ENST00000555849;ENST00000556259;ENST00000553499;ENST00000553397;ENST00000554663;ENST00000554825	T;T;T;T;T;T;T;T;T;T	0.43294	1.02;1.02;1.02;1.02;1.02;0.95;1.02;1.02;1.02;1.02	5.18	3.29	0.37713	STAT transcription factor, protein interaction (4);	0.506931	0.19907	N	0.103364	T	0.19005	0.0456	N	0.03608	-0.345	0.80722	D	1	B;B	0.12630	0.006;0.001	B;B	0.15870	0.014;0.003	T	0.03608	-1.1020	10	0.41790	T	0.15	-6.763	7.2923	0.26372	0.2121:0.0:0.7879:0.0	.	99;99	A8K4S9;P42226	.;STAT6_HUMAN	L	99;99;99;99;99;99;81;99;99;99;99	ENSP00000300134:F99L;ENSP00000438451:F99L;ENSP00000451742:F99L;ENSP00000401486:F99L;ENSP00000452394:F99L;ENSP00000452373:F81L;ENSP00000451074:F99L;ENSP00000452203:F99L;ENSP00000450665:F99L;ENSP00000451209:F99L	ENSP00000300134:F99L	F	-	3	2	STAT6	55787323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.066000	0.30604	0.524000	0.28502	0.655000	0.94253	TTC		0.478	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3		NM_003153		14	107	0	0	0	0.00499	0	14	107		
LRP1	4035	broad.mit.edu	37	12	57586683	57586683	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:57586683C>T	ENST00000243077.3	+	45	7951	c.7485C>T	c.(7483-7485)ctC>ctT	p.L2495L	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2495	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGTCTGCTCACTCACCAGG	0.647																																						uc001snd.2		NaN																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(7483-7485)CTC>CTT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						152.0	111.0	125.0					12																	57586683		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57586683C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7485C>T	12.37:g.57586683C>T						MIR1228_hsa-mir-1228|MI0006318_5'Flank	p.L2495L	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	45	7951	+			2495			EGF-like 10.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.7485C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575849	0.45902	.	.	ENSG00000123384	ENST00000554118	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	T	0.53818	0.1820	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52472	-0.8571	4	.	.	.	.	5.3373	0.15965	0.2031:0.6951:0.0:0.1018	.	.	.	.	Y	117	.	.	H	+	1	0	LRP1	55872950	0.972000	0.33761	1.000000	0.80357	0.997000	0.91878	0.098000	0.15189	2.243000	0.73865	0.514000	0.50259	CAC		0.647	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332		40	323	0	0	0	0.00874	0	40	323		
R3HDM2	22864	broad.mit.edu	37	12	57677750	57677750	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:57677750C>T	ENST00000347140.3	-	13	1376	c.986G>A	c.(985-987)aGc>aAc	p.S329N	R3HDM2_ENST00000403821.2_Missense_Mutation_p.S329N|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S329N|R3HDM2_ENST00000413953.2_Missense_Mutation_p.S56N|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Missense_Mutation_p.S343N|R3HDM2_ENST00000441731.2_5'UTR			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	329	Ser-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GTCTGTGCTGCTCCAAGGGCG	0.597																																						uc009zpm.1		NaN																	0				ovary(2)	2						c.(985-987)AGC>AAC		R3H domain containing 2							64.0	60.0	62.0					12																	57677750		2203	4300	6503	SO:0001583	missense	22864					nucleus	nucleic acid binding	g.chr12:57677750C>T	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.986G>A	12.37:g.57677750C>T	ENSP00000317903:p.Ser329Asn					R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_5'UTR|R3HDM2_uc001snr.2_Missense_Mutation_p.S56N|R3HDM2_uc001sns.2_Missense_Mutation_p.S329N|R3HDM2_uc001snt.2_Missense_Mutation_p.S343N	p.S329N	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN			11	1021	-			329			Ser-rich.		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	c.986G>A	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735081	0.89482	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000429355;ENST00000403821;ENST00000547262	T;T;T;T;T;T;T;T	0.74002	-0.19;-0.22;1.3;1.44;1.3;0.82;1.24;-0.8	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	L	0.51422	1.61	0.80722	D	1	D;D;D	0.76494	0.993;0.993;0.999	D;D;D	0.87578	0.968;0.968;0.998	D	0.83556	0.0104	10	0.52906	T	0.07	-9.0014	16.3994	0.83633	0.0:1.0:0.0:0.0	.	343;329;56	B5MCU0;Q9Y2K5;E9PAL1	.;R3HD2_HUMAN;.	N	56;56;329;343;329;94;329;199	ENSP00000409146:S56N;ENSP00000377400:S56N;ENSP00000317903:S329N;ENSP00000385839:S343N;ENSP00000351784:S329N;ENSP00000394676:S94N;ENSP00000385169:S329N;ENSP00000450411:S199N	ENSP00000317903:S329N	S	-	2	0	R3HDM2	55964017	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.629000	0.83207	2.394000	0.81467	0.555000	0.69702	AGC		0.597	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2		NM_014925		9	47	0	0	0	0.004482	0	9	47		
GLI1	2735	broad.mit.edu	37	12	57865639	57865639	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:57865639C>T	ENST00000228682.2	+	12	3207	c.3116C>T	c.(3115-3117)tCt>tTt	p.S1039F	GLI1_ENST00000546141.1_Missense_Mutation_p.S998F|GLI1_ENST00000543426.1_Missense_Mutation_p.S911F	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1039	Asp/Glu-rich (acidic).				cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCCCTGGACTCTCTTGATCTT	0.592																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NaN																	0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(3115-3117)TCT>TTT		GLI family zinc finger 1 isoform 1							158.0	149.0	152.0					12																	57865639		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57865639C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.3116C>T	12.37:g.57865639C>T	ENSP00000228682:p.Ser1039Phe					GLI1_uc009zpq.2_Missense_Mutation_p.S911F	p.S1039F	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	3194	+			1039			Asp/Glu-rich (acidic).		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.3116C>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954938	0.53293	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.14144	2.64;2.53;2.61;2.61	5.04	5.04	0.67666	.	0.000000	0.45606	D	0.000345	T	0.27205	0.0667	L	0.60455	1.87	0.35836	D	0.825675	D	0.67145	0.996	P	0.56700	0.804	T	0.12578	-1.0542	10	0.87932	D	0	.	13.4243	0.61015	0.0:0.842:0.1579:0.0	.	1039	P08151	GLI1_HUMAN	F	911;1039;998;998;507	ENSP00000437607:S911F;ENSP00000228682:S1039F;ENSP00000441006:S998F;ENSP00000434408:S998F	ENSP00000228682:S1039F	S	+	2	0	GLI1	56151906	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.664000	0.54525	2.793000	0.96121	0.655000	0.94253	TCT		0.592	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1		NM_005269		42	251	0	0	0	0.00361	0	42	251		
ARHGEF25	115557	broad.mit.edu	37	12	58010154	58010154	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:58010154G>T	ENST00000286494.4	+	14	1968	c.1508G>T	c.(1507-1509)gGa>gTa	p.G503V	ARHGEF25_ENST00000333972.7_Missense_Mutation_p.G542V|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	503						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GGGAGCCCTGGAAGAATTCAG	0.607																																						uc001spb.2		NaN																	0					0						c.(1507-1509)GGA>GTA		RhoA/RAC/CDC42 exchange factor isoform 1							71.0	71.0	71.0					12																	58010154		2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58010154G>T		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1508G>T	12.37:g.58010154G>T	ENSP00000286494:p.Gly503Val					GEFT_uc009zpy.2_Missense_Mutation_p.G542V|GEFT_uc001spa.2_Missense_Mutation_p.G397V|uc001spc.2_Intron|GEFT_uc001spd.2_Missense_Mutation_p.G208V	p.G503V	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN			14	1968	+	Melanoma(17;0.122)		503					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.1508G>T	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	g	14.44	2.535813	0.45176	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.31769	1.48;1.48	4.88	4.88	0.63580	.	0.000000	0.38492	N	0.001668	T	0.43743	0.1261	L	0.38175	1.15	0.58432	D	0.99999	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.922	T	0.10965	-1.0607	10	0.38643	T	0.18	.	13.7401	0.62842	0.0:0.0:1.0:0.0	.	542;503	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	V	542;503	ENSP00000335560:G542V;ENSP00000286494:G503V	ENSP00000286494:G503V	G	+	2	0	ARHGEF25	56296421	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	4.552000	0.60747	2.712000	0.92718	0.650000	0.86243	GGA		0.607	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1		NM_133483		17	77	1	0	4.75885e-15	0.00499	5.1013e-15	17	77		
XPOT	11260	broad.mit.edu	37	12	64812872	64812872	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:64812872G>C	ENST00000332707.5	+	6	1016	c.487G>C	c.(487-489)Gag>Cag	p.E163Q		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	163	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GCATACATCAGAGGCAAGTAA	0.393																																						uc001ssb.2		NaN																	0				ovary(2)	2						c.(487-489)GAG>CAG		tRNA exportin							94.0	96.0	95.0					12																	64812872		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64812872G>C	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.487G>C	12.37:g.64812872G>C	ENSP00000327821:p.Glu163Gln					XPOT_uc009zqm.1_Missense_Mutation_p.E73Q	p.E163Q	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	6	913	+			163			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.487G>C	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833992	0.50951	.	.	ENSG00000184575	ENST00000332707;ENST00000400935	T;T	0.49432	0.78;0.78	4.89	4.89	0.63831	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.050359	0.85682	D	0.000000	T	0.42200	0.1192	L	0.41236	1.265	0.80722	D	1	B	0.29612	0.251	B	0.29862	0.108	T	0.22452	-1.0216	9	.	.	.	.	18.9399	0.92601	0.0:0.0:1.0:0.0	.	163	O43592	XPOT_HUMAN	Q	163	ENSP00000327821:E163Q;ENSP00000383722:E163Q	.	E	+	1	0	XPOT	63099139	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	9.731000	0.98807	2.633000	0.89246	0.557000	0.71058	GAG		0.393	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1		NM_007235		11	91	0	0	0	0.001368	0	11	91		
XPOT	11260	broad.mit.edu	37	12	64833030	64833030	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:64833030G>A	ENST00000332707.5	+	23	3269	c.2740G>A	c.(2740-2742)Gaa>Aaa	p.E914K		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	914	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TCAGGGCCCAGAATGTGTTCA	0.363																																						uc001ssb.2		NaN																	0				ovary(2)	2						c.(2740-2742)GAA>AAA		tRNA exportin							104.0	95.0	98.0					12																	64833030		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64833030G>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2740G>A	12.37:g.64833030G>A	ENSP00000327821:p.Glu914Lys						p.E914K	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	23	3166	+			914			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.2740G>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479999	0.84747	.	.	ENSG00000184575	ENST00000332707	T	0.27402	1.67	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.42200	0.1192	M	0.79805	2.47	0.80722	D	1	D	0.53151	0.958	B	0.42386	0.386	T	0.49670	-0.8915	9	.	.	.	.	19.4369	0.94799	0.0:0.0:1.0:0.0	.	914	O43592	XPOT_HUMAN	K	914	ENSP00000327821:E914K	.	E	+	1	0	XPOT	63119297	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.233000	0.95337	2.692000	0.91855	0.484000	0.47621	GAA		0.363	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1		NM_007235		7	59	0	0	0	0.008291	0	7	59		
HELB	92797	broad.mit.edu	37	12	66703693	66703693	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:66703693C>T	ENST00000247815.4	+	4	1044	c.985C>T	c.(985-987)Cat>Tat	p.H329Y		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	329					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TATGTCATTTCATGCTGCTTC	0.383																																						uc001sti.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(985-987)CAT>TAT		helicase (DNA) B							199.0	181.0	187.0					12																	66703693		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66703693C>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.985C>T	12.37:g.66703693C>T	ENSP00000247815:p.His329Tyr					HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	p.H329Y	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	4	1013	+			329					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.985C>T	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	C	9.396	1.076810	0.20227	.	.	ENSG00000127311	ENST00000247815	T	0.53857	0.6	6.07	-1.76	0.08006	.	1.176500	0.05948	N	0.638285	T	0.43166	0.1235	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28964	-1.0027	9	.	.	.	0.0667	9.9668	0.41730	0.0:0.2043:0.5283:0.2674	.	329	Q8NG08	HELB_HUMAN	Y	329	ENSP00000247815:H329Y	.	H	+	1	0	HELB	64989960	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.943000	0.03917	-0.660000	0.05352	0.655000	0.94253	CAT		0.383	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1				10	69	0	0	0	0.008291	0	10	69		
NAV3	89795	broad.mit.edu	37	12	78513293	78513293	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:78513293C>T	ENST00000397909.2	+	15	3490	c.3317C>T	c.(3316-3318)tCa>tTa	p.S1106L	NAV3_ENST00000228327.6_Missense_Mutation_p.S1106L|NAV3_ENST00000266692.7_Missense_Mutation_p.S1106L|NAV3_ENST00000536525.2_Missense_Mutation_p.S1106L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1106	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGCGGGAAGTCAAATGCAGGG	0.483										HNSCC(70;0.22)																												uc001syp.2		NaN																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3316-3318)TCA>TTA		neuron navigator 3							67.0	69.0	68.0					12																	78513293		1966	4152	6118	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513293C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3317C>T	12.37:g.78513293C>T	ENSP00000381007:p.Ser1106Leu	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S1106L|NAV3_uc010sub.1_Missense_Mutation_p.S606L|NAV3_uc009zsf.2_Missense_Mutation_p.S114L	p.S1106L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			15	3490	+			1106			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3317C>T		.	.	.	.	.	.	.	.	.	.	C	24.4	4.524282	0.85600	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.64	5.64	0.86602	.	0.000000	0.36234	U	0.002703	T	0.47377	0.1442	L	0.43152	1.355	0.80722	D	1	D;D;D;B	0.69078	0.993;0.997;0.985;0.002	P;D;P;B	0.63703	0.777;0.917;0.731;0.003	T	0.32052	-0.9921	10	0.51188	T	0.08	-6.1804	17.8811	0.88841	0.0:1.0:0.0:0.0	.	1106;1106;1106;1106	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	1106	ENSP00000446132:S1106L;ENSP00000381007:S1106L;ENSP00000228327:S1106L;ENSP00000266692:S1106L	ENSP00000228327:S1106L	S	+	2	0	NAV3	77037424	1.000000	0.71417	0.950000	0.38849	0.925000	0.55904	6.882000	0.75589	2.627000	0.88993	0.655000	0.94253	TCA		0.483	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1		NM_001024383		13	67	0	0	0	0.003163	0	13	67		
ACSS3	79611	broad.mit.edu	37	12	81472105	81472105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:81472105C>A	ENST00000548058.1	+	1	1116	c.206C>A	c.(205-207)tCg>tAg	p.S69*	ACSS3_ENST00000261206.3_Nonsense_Mutation_p.S69*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	69						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTCGCAGCCTCGGTGACCGAC	0.657																																						uc001szl.1		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(205-207)TCG>TAG		acyl-CoA synthetase short-chain family member 3							32.0	30.0	31.0					12																	81472105		2044	4065	6109	SO:0001587	stop_gained	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81472105C>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.206C>A	12.37:g.81472105C>A	ENSP00000449535:p.Ser69*					ACSS3_uc001szm.1_Nonsense_Mutation_p.S69*	p.S69*	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			1	297	+			69					Q8NC66	Nonsense_Mutation	SNP	ENST00000548058.1	37	c.206C>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624342	0.87560	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	.	.	.	4.76	4.76	0.60689	.	0.140541	0.48767	D	0.000173	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9684	14.7846	0.69793	0.0:1.0:0.0:0.0	.	.	.	.	X	69	.	ENSP00000261206:S69X	S	+	2	0	ACSS3	79996236	0.993000	0.37304	1.000000	0.80357	0.048000	0.14542	3.782000	0.55401	2.470000	0.83445	0.655000	0.94253	TCG		0.657	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1		NM_024560		9	90	1	0	0.000442599	0.006214	0.000454164	9	90		
MYBPC1	4604	broad.mit.edu	37	12	102057224	102057224	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:102057224C>T	ENST00000550270.1	+	20	2167	c.2167C>T	c.(2167-2169)Ctt>Ttt	p.L723F	MYBPC1_ENST00000360610.2_Missense_Mutation_p.L723F|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L697F|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L748F|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L710F|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L748F|MYBPC1_ENST00000441232.1_Missense_Mutation_p.L723F|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L723F|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L723F|MYBPC1_ENST00000551300.1_Missense_Mutation_p.L624F|MYBPC1_ENST00000452455.2_Missense_Mutation_p.L723F|MYBPC1_ENST00000549145.1_Missense_Mutation_p.L736F|MYBPC1_ENST00000541119.1_Missense_Mutation_p.L711F|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L704F|MYBPC1_ENST00000547509.1_Missense_Mutation_p.L709F			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	723	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCCTCCTACTCTTCTGACTGT	0.458																																						uc001tii.2		NaN																	0				ovary(2)|liver(1)|skin(1)	4						c.(2167-2169)CTT>TTT		myosin binding protein C, slow type isoform 3							174.0	161.0	166.0					12																	102057224		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102057224C>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2167C>T	12.37:g.102057224C>T	ENSP00000449702:p.Leu723Phe					MYBPC1_uc001tig.2_Missense_Mutation_p.L748F|MYBPC1_uc010svq.1_Missense_Mutation_p.L710F|MYBPC1_uc001tih.2_Missense_Mutation_p.L748F|MYBPC1_uc001tij.2_Missense_Mutation_p.L723F|MYBPC1_uc010svr.1_Missense_Mutation_p.L723F|MYBPC1_uc010svs.1_Missense_Mutation_p.L723F|MYBPC1_uc010svt.1_Missense_Mutation_p.L711F|MYBPC1_uc010svu.1_Missense_Mutation_p.L704F|MYBPC1_uc001tik.2_Missense_Mutation_p.L697F|MYBPC1_uc001til.2_5'Flank|MYBPC1_uc001tim.2_5'Flank	p.L723F	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			20	2269	+			723			Fibronectin type-III 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2167C>T	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537877	0.27475	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.28	5.28	0.74379	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000283	T	0.54549	0.1865	L	0.35854	1.095	0.37768	D	0.926551	B;P;B;P;P;P;P;P;B;P	0.52577	0.028;0.924;0.445;0.924;0.848;0.605;0.906;0.924;0.391;0.954	B;P;B;P;P;B;P;P;B;P	0.58266	0.063;0.795;0.374;0.77;0.564;0.361;0.747;0.836;0.325;0.804	T	0.59118	-0.7514	10	0.46703	T	0.11	.	7.7572	0.28932	0.282:0.6417:0.0:0.0763	.	704;711;723;723;710;697;723;723;748;748	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	F	697;723;723;723;710;709;748;736;723;748;723;704;711;748;624;723	ENSP00000448175:L697F;ENSP00000400908:L723F;ENSP00000388989:L723F;ENSP00000353822:L723F;ENSP00000376665:L710F;ENSP00000447362:L709F;ENSP00000354845:L748F;ENSP00000447660:L736F;ENSP00000447900:L723F;ENSP00000440034:L723F;ENSP00000446128:L704F;ENSP00000442847:L711F;ENSP00000354849:L748F;ENSP00000447116:L624F;ENSP00000449702:L723F	ENSP00000353822:L723F	L	+	1	0	MYBPC1	100581355	0.909000	0.30893	0.999000	0.59377	0.968000	0.65278	1.899000	0.39818	2.454000	0.82982	0.650000	0.86243	CTT		0.458	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1				14	96	0	0	0	0.004007	0	14	96		
SART3	9733	broad.mit.edu	37	12	108954849	108954849	+	Missense_Mutation	SNP	C	C	T	rs578149175		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:108954849C>T	ENST00000228284.3	-	1	316	c.82G>A	c.(82-84)Gag>Aag	p.E28K	SART3_ENST00000552221.1_5'UTR|ISCU_ENST00000338291.4_5'Flank|SART3_ENST00000546611.1_Missense_Mutation_p.E28K|ISCU_ENST00000431221.2_5'Flank|ISCU_ENST00000311893.9_5'Flank|ISCU_ENST00000535729.1_5'Flank|ISCU_ENST00000392807.4_5'Flank|ISCU_ENST00000539593.1_5'Flank|SART3_ENST00000431469.2_Missense_Mutation_p.E28K|ISCU_ENST00000547005.1_5'Flank	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	28					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GCCTTAACCTCATCCTCCTCT	0.612									Porokeratosis																													uc001tmz.1		NaN																	0				pancreas(1)	1						c.(82-84)GAG>AAG		squamous cell carcinoma antigen recognized by T							82.0	69.0	73.0					12																	108954849		2203	4300	6503	SO:0001583	missense	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108954849C>T	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.82G>A	12.37:g.108954849C>T	ENSP00000228284:p.Glu28Lys					SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Missense_Mutation_p.E28K|SART3_uc010swz.1_Missense_Mutation_p.E28K|SART3_uc001tna.1_RNA|SART3_uc001tnb.2_Missense_Mutation_p.E28K|ISCU_uc010sxa.1_5'Flank|ISCU_uc010sxb.1_5'Flank|ISCU_uc001tnc.3_5'Flank|ISCU_uc010sxc.1_5'Flank|ISCU_uc009zuy.2_5'Flank|ISCU_uc010sxd.1_5'Flank	p.E28K	NM_014706	NP_055521	Q15020	SART3_HUMAN			1	317	-			28			Potential.		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	c.82G>A	CCDS9117.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.22|18.22	3.576862|3.576862	0.65878|0.65878	.|.	.|.	ENSG00000075856|ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000546815;ENST00000546611|ENST00000412617	T;T;T;T|.	0.59906|.	2.21;2.05;0.23;0.56|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.149467|.	0.32190|.	N|.	0.006443|.	T|T	0.54447|0.54447	0.1859|0.1859	L|L	0.31926|0.31926	0.97|0.97	0.33608|0.33608	D|D	0.603173|0.603173	B;P;B|.	0.47910|.	0.247;0.902;0.247|.	B;B;B|.	0.43301|.	0.104;0.415;0.104|.	T|T	0.67059|0.67059	-0.5766|-0.5766	10|6	0.36615|0.87932	T|D	0.2|0	-19.5172|-19.5172	14.9889|14.9889	0.71371|0.71371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;28;28|.	B7ZKM0;Q15020-3;Q15020|.	.;.;SART3_HUMAN|.	K|I	28|1	ENSP00000228284:E28K;ENSP00000414453:E28K;ENSP00000449386:E28K;ENSP00000448554:E28K|.	ENSP00000228284:E28K|ENSP00000400292:M1I	E|M	-|-	1|3	0|0	SART3|SART3	107478979|107478979	0.234000|0.234000	0.23783|0.23783	0.301000|0.301000	0.25044|0.25044	0.616000|0.616000	0.37450|0.37450	1.789000|1.789000	0.38724|0.38724	2.698000|2.698000	0.92095|0.92095	0.561000|0.561000	0.74099|0.74099	GAG|ATG		0.612	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1				13	103	0	0	0	0.00499	0	13	103		
CUX2	23316	broad.mit.edu	37	12	111758298	111758298	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:111758298G>A	ENST00000261726.6	+	17	2639	c.2485G>A	c.(2485-2487)Gag>Aag	p.E829K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	829					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCGCGGGGACGAGGCCCCTGT	0.771																																						uc001tsa.1		NaN																	0				ovary(3)|skin(2)|breast(1)	6						c.(2485-2487)GAG>AAG		cut-like 2							6.0	8.0	7.0					12																	111758298		1657	3617	5274	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758298G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2485G>A	12.37:g.111758298G>A	ENSP00000261726:p.Glu829Lys						p.E829K	NM_015267	NP_056082	O14529	CUX2_HUMAN			17	2638	+			829					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.2485G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	8.116	0.779949	0.16120	.	.	ENSG00000111249	ENST00000261726	T	0.42900	0.96	3.93	3.93	0.45458	.	0.402322	0.26369	N	0.024772	T	0.24470	0.0593	N	0.22421	0.69	0.27358	N	0.956038	B	0.30634	0.288	B	0.21708	0.036	T	0.10590	-1.0623	10	0.16420	T	0.52	-9.4163	11.3152	0.49388	0.0:0.0:0.8178:0.1822	.	829	O14529	CUX2_HUMAN	K	829	ENSP00000261726:E829K	ENSP00000261726:E829K	E	+	1	0	CUX2	110242681	1.000000	0.71417	0.339000	0.25562	0.182000	0.23217	4.092000	0.57707	1.761000	0.52028	0.306000	0.20318	GAG		0.771	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1		NM_015267		4	19	0	0	0	0.000602	0	4	19		
ATXN2	6311	broad.mit.edu	37	12	111957800	111957800	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:111957800G>C	ENST00000377617.3	-	8	1510	c.1349C>G	c.(1348-1350)tCa>tGa	p.S450*	ATXN2_ENST00000535949.1_Nonsense_Mutation_p.S161*|ATXN2_ENST00000608853.1_Nonsense_Mutation_p.S290*|ATXN2_ENST00000550104.1_Nonsense_Mutation_p.S450*|ATXN2_ENST00000389153.4_Nonsense_Mutation_p.S185*|ATXN2_ENST00000549455.1_5'Flank|ATXN2_ENST00000542287.2_Nonsense_Mutation_p.S185*	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	450					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTGGGCACTTGACTCAATTTC	0.428																																						uc001tsj.2		NaN																	0				ovary(1)|breast(1)	2						c.(1348-1350)TCA>TGA		ataxin 2							196.0	181.0	186.0					12																	111957800		2203	4300	6503	SO:0001587	stop_gained	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111957800G>C	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1349C>G	12.37:g.111957800G>C	ENSP00000366843:p.Ser450*					ATXN2_uc001tsh.2_Nonsense_Mutation_p.S185*|ATXN2_uc001tsi.2_Nonsense_Mutation_p.S161*|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Nonsense_Mutation_p.S185*	p.S450*	NM_002973	NP_002964	Q99700	ATX2_HUMAN			8	1511	-			450					A6NLD4|Q6ZQZ7|Q99493	Nonsense_Mutation	SNP	ENST00000377617.3	37	c.1349C>G	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	37	6.224482	0.97390	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000471866	.	.	.	5.5	5.5	0.81552	.	0.058654	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.5301	19.3972	0.94611	0.0:0.0:1.0:0.0	.	.	.	.	X	185;450;450;185;161;126	.	ENSP00000366843:S450X	S	-	2	0	ATXN2	110442183	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.509000	0.81698	2.581000	0.87130	0.561000	0.74099	TCA		0.428	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3		NM_002973		4	45	0	0	0	0.009096	0	4	45		
HECTD4	283450	broad.mit.edu	37	12	112707527	112707527	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:112707527C>T	ENST00000430131.2	-	12	2151	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	HECTD4_ENST00000377560.5_Missense_Mutation_p.E586K|RN7SKP71_ENST00000364558.1_RNA|HECTD4_ENST00000550722.1_Missense_Mutation_p.E624K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	336					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGGCAGACTTCCTTCTGAATT	0.423																																						uc009zwc.2		NaN																	0				ovary(1)|lung(1)	2						c.(1006-1008)GAA>AAA		chromosome 12 open reading frame 51							85.0	84.0	85.0					12																	112707527		2203	4300	6503	SO:0001583	missense	283450							g.chr12:112707527C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1006G>A	12.37:g.112707527C>T	ENSP00000404379:p.Glu336Lys					C12orf51_uc010syk.1_Missense_Mutation_p.E159K|C12orf51_uc001tts.2_Missense_Mutation_p.E159K|C12orf51_uc001ttt.3_Missense_Mutation_p.E159K	p.E336K	NM_001109662	NP_001103132					6	1024	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.1006G>A		.	.	.	.	.	.	.	.	.	.	C	17.24	3.339478	0.60963	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000550724	T;T;T	0.61158	0.14;0.16;0.13	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	N	0.14661	0.345	0.53688	D	0.99997	D;P;D	0.56035	0.974;0.956;0.974	D;D;D	0.70487	0.969;0.931;0.969	T	0.69446	-0.5143	10	0.87932	D	0	.	20.2821	0.98520	0.0:1.0:0.0:0.0	.	336;336;336	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	K	586;336;624;14	ENSP00000366783:E586K;ENSP00000404379:E336K;ENSP00000449784:E624K	ENSP00000366783:E586K	E	-	1	0	C12orf51	111191910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.786000	0.95864	0.563000	0.77884	GAA		0.423	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813		3	19	0	0	0	0.009096	0	3	19		
TBX3	6926	broad.mit.edu	37	12	115112445	115112445	+	Missense_Mutation	SNP	G	G	A	rs372774795		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:115112445G>A	ENST00000257566.3	-	7	1684	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	TBX3_ENST00000349155.2_Missense_Mutation_p.S412L	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	432					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGAGTCGGGCGACGCTTTGTC	0.731																																						uc001tvt.1		NaN																	0				ovary(2)|skin(1)	3						c.(1294-1296)TCG>TTG		T-box 3 protein isoform 2							16.0	21.0	19.0					12																	115112445		2201	4292	6493	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115112445G>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1295C>T	12.37:g.115112445G>A	ENSP00000257566:p.Ser432Leu					TBX3_uc001tvu.1_Missense_Mutation_p.S412L	p.S432L	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	7	2259	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		432					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.1295C>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015793	0.54468	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.88046	-2.33;-2.32	5.14	4.25	0.50352	.	14.391800	0.00166	N	0.000000	D	0.83394	0.5245	L	0.41236	1.265	0.35364	D	0.78843	B;B	0.26147	0.143;0.003	B;B	0.14578	0.011;0.001	T	0.59473	-0.7448	10	0.12430	T	0.62	.	12.7492	0.57298	0.0796:0.0:0.9204:0.0	.	412;432	O15119-2;O15119	.;TBX3_HUMAN	L	412;432;432	ENSP00000257567:S412L;ENSP00000257566:S432L	ENSP00000257566:S432L	S	-	2	0	TBX3	113596828	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	2.909000	0.48758	1.169000	0.42739	0.591000	0.81541	TCG		0.731	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2		NM_016569, NM_005996		8	28	0	0	0	0.006214	0	8	28		
PRKAB1	5564	broad.mit.edu	37	12	120118103	120118103	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:120118103C>T	ENST00000229328.5	+	7	1278	c.786C>T	c.(784-786)gtC>gtT	p.V262V	PRKAB1_ENST00000537057.1_3'UTR|PRKAB1_ENST00000541640.1_Silent_p.V262V|PRKAB1_ENST00000540121.1_Silent_p.V96V	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	262					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	AGAAGTACGTCACCACCTTGT	0.552																																						uc009zwu.2		NaN																	0					0						c.(784-786)GTC>GTT		AMP-activated protein kinase beta 1	Adenosine monophosphate(DB00131)|Metformin(DB00331)						117.0	95.0	102.0					12																	120118103		2203	4300	6503	SO:0001819	synonymous_variant	5564				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		g.chr12:120118103C>T	BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.786C>T	12.37:g.120118103C>T						PRKAB1_uc001txg.2_Silent_p.V262V	p.V262V	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.166)	8	889	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		262					Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Silent	SNP	ENST00000229328.5	37	c.786C>T	CCDS9191.1																																																																																				0.552	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2		NM_006253		6	45	0	0	0	0.00308	0	6	45		
CIT	11113	broad.mit.edu	37	12	120220372	120220372	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:120220372G>A	ENST00000261833.7	-	13	1667	c.1615C>T	c.(1615-1617)Ctc>Ttc	p.L539F	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.L539F	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	539					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATATCATGGAGAAGCTGCAGT	0.512																																						uc001txi.1		NaN																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(1615-1617)CTC>TTC		citron							105.0	91.0	96.0					12																	120220372		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120220372G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1615C>T	12.37:g.120220372G>A	ENSP00000261833:p.Leu539Phe					CIT_uc001txh.1_Missense_Mutation_p.L73F|CIT_uc001txj.1_Missense_Mutation_p.L539F	p.L539F	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	13	1668	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	539			Potential.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.1615C>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501082	0.96371	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.67171	-0.25;-0.2	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.75398	0.3844	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.986;0.994;0.997	T	0.75566	-0.3273	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	539;539;72	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	F	539	ENSP00000376306:L539F;ENSP00000261833:L539F	ENSP00000261833:L539F	L	-	1	0	CIT	118704755	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.777000	0.75028	2.941000	0.99782	0.655000	0.94253	CTC		0.512	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4		NM_007174		7	64	0	0	0	0.004482	0	7	64		
GCN1L1	10985	broad.mit.edu	37	12	120592798	120592798	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:120592798G>C	ENST00000300648.6	-	31	3689	c.3677C>G	c.(3676-3678)tCt>tGt	p.S1226C	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1226					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCTGGAGGAGATTCTGAAAT	0.532																																						uc001txo.2		NaN																	0				ovary(4)	4						c.(3676-3678)TCT>TGT		GCN1 general control of amino-acid synthesis							77.0	87.0	83.0					12																	120592798		1971	4152	6123	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120592798G>C	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3677C>G	12.37:g.120592798G>C	ENSP00000300648:p.Ser1226Cys						p.S1226C	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			31	3690	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1226					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.3677C>G	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066185	0.93898	.	.	ENSG00000089154	ENST00000300648	T	0.49432	0.78	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.055502	0.64402	D	0.000001	T	0.56746	0.2006	M	0.71206	2.165	0.80722	D	1	D	0.58970	0.984	P	0.46026	0.501	T	0.62455	-0.6851	10	0.62326	D	0.03	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	1226	Q92616	GCN1L_HUMAN	C	1226	ENSP00000300648:S1226C	ENSP00000300648:S1226C	S	-	2	0	GCN1L1	119077181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.147000	0.94646	2.688000	0.91661	0.591000	0.81541	TCT		0.532	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1				13	103	0	0	0	0.001855	0	13	103		
DENR	8562	broad.mit.edu	37	12	123253411	123253411	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:123253411C>T	ENST00000280557.6	+	7	681	c.495C>T	c.(493-495)atC>atT	p.I165I	Y_RNA_ENST00000384187.1_RNA|DENR_ENST00000455982.2_Intron	NM_003677.3	NP_003668.2	O43583	DENR_HUMAN	density-regulated protein	165	SUI1. {ECO:0000255|PROSITE- ProRule:PRU00200}.				formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)		translation initiation factor activity (GO:0003743)			kidney(1)|large_intestine(1)|urinary_tract(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)		ATGAAATTATCATTCAGGGAG	0.343																																						uc001uda.2		NaN																	0					0						c.(493-495)ATC>ATT		density-regulated protein							47.0	45.0	45.0					12																	123253411		1845	4095	5940	SO:0001819	synonymous_variant	8562						protein binding|translation initiation factor activity	g.chr12:123253411C>T	AF038554	CCDS45003.1	12q24.31	1999-06-17			ENSG00000139726	ENSG00000139726			2769	protein-coding gene	gene with protein product		604550				9628587	Standard	NM_003677		Approved	DRP, DRP1, SMAP-3	uc001uda.3	O43583	OTTHUMG00000168844	ENST00000280557.6:c.495C>T	12.37:g.123253411C>T						DENR_uc010tag.1_Intron|DENR_uc001udb.2_Silent_p.I119I	p.I165I	NM_003677	NP_003668	O43583	DENR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)	7	631	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		165			SUI1.		Q9H3U6|Q9UKZ0	Silent	SNP	ENST00000280557.6	37	c.495C>T	CCDS45003.1																																																																																				0.343	DENR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401336.1		NM_003677		3	15	0	0	0	0.009096	0	3	15		
MPHOSPH9	10198	broad.mit.edu	37	12	123665727	123665727	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:123665727C>G	ENST00000606320.1	-	14	2478	c.2272G>C	c.(2272-2274)Gaa>Caa	p.E758Q	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E606Q|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E606Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E728Q			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	758						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTCCTGTGTTCTTTTCCAAGG	0.373																																						uc001uel.2		NaN																	0					0						c.(1816-1818)GAA>CAA		M-phase phosphoprotein 9							150.0	123.0	132.0					12																	123665727		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123665727C>G	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2272G>C	12.37:g.123665727C>G	ENSP00000475489:p.Glu758Gln					MPHOSPH9_uc010tal.1_Missense_Mutation_p.E60Q|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.E60Q	p.E606Q	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	10	1923	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		606			Potential.		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.1816G>C		.	.	.	.	.	.	.	.	.	.	C	15.99	2.994519	0.54041	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.80480	-1.38;-1.38	5.44	4.5	0.54988	.	0.230294	0.34178	N	0.004188	T	0.80221	0.4583	L	0.57536	1.79	0.43724	D	0.996202	P	0.36144	0.539	B	0.40782	0.34	T	0.82082	-0.0633	10	0.56958	D	0.05	-20.6289	14.8844	0.70557	0.0:0.8429:0.1571:0.0	.	606	Q99550	MPP9_HUMAN	Q	606	ENSP00000303597:E606Q;ENSP00000445859:E606Q	ENSP00000303597:E606Q	E	-	1	0	MPHOSPH9	122231680	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.725000	0.47294	2.541000	0.85698	0.655000	0.94253	GAA		0.373	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2				5	54	0	0	0	0.001984	0	5	54		
TCTN2	79867	broad.mit.edu	37	12	124158295	124158295	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:124158295C>T	ENST00000303372.5	+	4	529	c.401C>T	c.(400-402)tCa>tTa	p.S134L	TCTN2_ENST00000426174.2_Missense_Mutation_p.S133L	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	134					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TCATCCTGTTCAGCACATCTA	0.448																																						uc001ufp.2		NaN																	0				ovary(1)	1						c.(400-402)TCA>TTA		tectonic family member 2 isoform 1							238.0	225.0	229.0					12																	124158295		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124158295C>T	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.401C>T	12.37:g.124158295C>T	ENSP00000304941:p.Ser134Leu					TCTN2_uc009zya.2_Missense_Mutation_p.S133L	p.S134L	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	4	529	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		134			Extracellular (Potential).		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.401C>T	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	c	0.132	-1.112331	0.01799	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.81739	-1.53;-1.53	5.05	-0.177	0.13307	.	1.498570	0.04467	N	0.375384	T	0.41766	0.1173	N	0.00088	-2.19	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34079	-0.9843	10	0.25751	T	0.34	-18.1622	4.0676	0.09868	0.1414:0.2392:0.0:0.6194	.	133;134	A8K7Y8;Q96GX1	.;TECT2_HUMAN	L	133;134	ENSP00000395171:S133L;ENSP00000304941:S134L	ENSP00000304941:S134L	S	+	2	0	TCTN2	122724248	0.048000	0.20356	0.014000	0.15608	0.529000	0.34654	0.298000	0.19120	-0.297000	0.08934	-0.292000	0.09595	TCA		0.448	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1		NM_024809		34	159	0	0	0	0.009718	0	34	159		
DNAH10	196385	broad.mit.edu	37	12	124409711	124409711	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:124409711C>T	ENST00000409039.3	+	67	11552	c.11527C>T	c.(11527-11529)Cgg>Tgg	p.R3843W	CCDC92_ENST00000544798.1_Intron|RP11-380L11.4_ENST00000602952.1_RNA	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3843					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCGGGTCTATCGGGCCGTGAC	0.498																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(11527-11529)CGG>TGG		dynein, axonemal, heavy chain 10							214.0	207.0	209.0					12																	124409711		1994	4176	6170	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124409711C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11527C>T	12.37:g.124409711C>T	ENSP00000386770:p.Arg3843Trp					DNAH10_uc001ufu.3_5'UTR	p.R3843W	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	67	11552	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3843					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.11527C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151607	0.78001	.	.	ENSG00000197653	ENST00000409039	T	0.08546	3.08	5.45	5.45	0.79879	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.31638	0.0803	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.04115	-1.0976	10	0.38643	T	0.18	.	14.1605	0.65443	0.1498:0.8502:0.0:0.0	.	3843	Q8IVF4	DYH10_HUMAN	W	3843	ENSP00000386770:R3843W	ENSP00000386770:R3843W	R	+	1	2	DNAH10	122975664	1.000000	0.71417	0.963000	0.40424	0.882000	0.50991	4.660000	0.61511	2.534000	0.85438	0.561000	0.74099	CGG		0.498	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				14	102	0	0	0	0.00499	0	14	102		
GPR133	283383	broad.mit.edu	37	12	131471689	131471689	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:131471689G>A	ENST00000261654.5	+	6	1099	c.540G>A	c.(538-540)ctG>ctA	p.L180L	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Silent_p.L212L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	180					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGGAGGGCCTGAAAGTCTACG	0.517																																						uc001uit.3		NaN																	0				pancreas(5)|ovary(3)|skin(2)	10						c.(538-540)CTG>CTA		G protein-coupled receptor 133 precursor							101.0	94.0	97.0					12																	131471689		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131471689G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.540G>A	12.37:g.131471689G>A						GPR133_uc010tbm.1_Silent_p.L212L	p.L180L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	6	1099	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		180			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.540G>A	CCDS9272.1																																																																																				0.517	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1		NM_198827		9	63	0	0	0	0.008291	0	9	63		
ANKLE2	23141	broad.mit.edu	37	12	133327436	133327436	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:133327436C>G	ENST00000357997.5	-	3	730		c.e3-1		ANKLE2_ENST00000337516.5_Splice_Site|ANKLE2_ENST00000539605.1_Splice_Site	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2						mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TAGATCCTTTCTGGGTAAGAA	0.433																																						uc001ukx.2		NaN																	0					0						c.e3-1		ankyrin repeat and LEM domain containing 2							67.0	68.0	68.0					12																	133327436		1852	4086	5938	SO:0001630	splice_region_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133327436C>G	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.641-1G>C	12.37:g.133327436C>G						ANKLE2_uc001uky.3_Splice_Site_p.E152_splice	p.E214_splice	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	3	708	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)						A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Splice_Site	SNP	ENST00000357997.5	37	c.641_splice	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216792	0.58452	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1953	0.93686	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKLE2	131837509	1.000000	0.71417	0.998000	0.56505	0.640000	0.38277	7.351000	0.79395	2.709000	0.92574	0.655000	0.94253	.		0.433	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			Intron	4	28	0	0	0	0.000602	0	4	28		
SAP18	10284	broad.mit.edu	37	13	21721357	21721357	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:21721357G>C	ENST00000607003.1	+	4	370	c.338G>C	c.(337-339)aGa>aCa	p.R113T	SAP18_ENST00000382533.4_Missense_Mutation_p.R132T			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	113	Involved in splicing regulation activity.				mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		ATGTCTGGCAGAAAGGGGACT	0.443																																						uc001uns.2		NaN																	0					0						c.(394-396)AGA>ACA		Sin3A-associated protein, 18kDa							108.0	108.0	108.0					13																	21721357		2203	4300	6503	SO:0001583	missense	10284				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity	g.chr13:21721357G>C	U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"""sin3A-associated protein, 18kDa"""			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.338G>C	13.37:g.21721357G>C	ENSP00000475925:p.Arg113Thr						p.R132T	NM_005870	NP_005861	O00422	SAP18_HUMAN		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)	4	434	+		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	113					B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Missense_Mutation	SNP	ENST00000607003.1	37	c.395G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.85|17.85	3.491366|3.491366	0.64074|0.64074	.|.	.|.	ENSG00000150459|ENSG00000150459	ENST00000450573|ENST00000382533	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.039658	.|0.85682	.|D	.|0.000000	T|T	0.68449|0.68449	0.3002|0.3002	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.11329	.|0.006	T|T	0.62445|0.62445	-0.6853|-0.6853	5|9	.|0.25751	.|T	.|0.34	-12.0414|-12.0414	20.2033|20.2033	0.98269|0.98269	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|113	.|O00422	.|SAP18_HUMAN	H|T	126|132	.|.	.|ENSP00000371973:R132T	Q|R	+|+	3|2	2|0	SAP18|SAP18	20619357|20619357	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.993000|0.993000	0.82548|0.82548	9.636000|9.636000	0.98440|0.98440	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.443	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1		NM_005870		15	101	0	0	0	0.007413	0	15	101		
PARP4	143	broad.mit.edu	37	13	25067846	25067846	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:25067846G>C	ENST00000381989.3	-	8	872	c.767C>G	c.(766-768)tCa>tGa	p.S256*		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	256	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CAGAGTGCTTGAATTCATGAC	0.438																																						uc001upl.2		NaN																	0				ovary(3)|skin(1)	4						c.(766-768)TCA>TGA		poly (ADP-ribose) polymerase family, member 4							99.0	85.0	90.0					13																	25067846		2203	4300	6503	SO:0001587	stop_gained	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25067846G>C	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.767C>G	13.37:g.25067846G>C	ENSP00000371419:p.Ser256*					PARP4_uc010tdc.1_Nonsense_Mutation_p.S256*	p.S256*	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	8	873	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	256			PARP alpha-helical.		O75903|Q14682|Q5QNZ9|Q9H1M6	Nonsense_Mutation	SNP	ENST00000381989.3	37	c.767C>G	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071424	0.76301	.	.	ENSG00000102699	ENST00000381989	.	.	.	3.97	2.05	0.26809	.	0.861974	0.09877	U	0.744141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-1.4205	7.3732	0.26813	0.1029:0.1703:0.7268:0.0	.	.	.	.	X	256	.	ENSP00000371419:S256X	S	-	2	0	PARP4	23965846	0.078000	0.21339	0.001000	0.08648	0.446000	0.32137	2.055000	0.41345	1.001000	0.39076	0.643000	0.83706	TCA		0.438	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1		NM_006437		13	37	0	0	0	0.004007	0	13	37		
PARP4	143	broad.mit.edu	37	13	25077788	25077788	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:25077788G>C	ENST00000381989.3	-	2	232	c.127C>G	c.(127-129)Cct>Gct	p.P43A		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	43	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AATACCTGAGGATTTAACGAA	0.398																																						uc001upl.2		NaN																	0				ovary(3)|skin(1)	4						c.(127-129)CCT>GCT		poly (ADP-ribose) polymerase family, member 4							112.0	106.0	108.0					13																	25077788		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25077788G>C	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.127C>G	13.37:g.25077788G>C	ENSP00000371419:p.Pro43Ala					PARP4_uc010tdc.1_Missense_Mutation_p.P43A	p.P43A	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	2	233	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	43			BRCT.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.127C>G	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	8.186	0.794832	0.16327	.	.	ENSG00000102699	ENST00000381989	T	0.78924	-1.22	4.78	3.0	0.34707	BRCT (4);	0.486612	0.21536	N	0.072975	T	0.59555	0.2202	N	0.17674	0.51	0.24176	N	0.995608	B	0.24920	0.114	B	0.19666	0.026	T	0.49588	-0.8924	10	0.41790	T	0.15	-5.391	6.3894	0.21579	0.0996:0.1863:0.714:0.0	.	43	Q9UKK3	PARP4_HUMAN	A	43	ENSP00000371419:P43A	ENSP00000371419:P43A	P	-	1	0	PARP4	23975788	0.972000	0.33761	0.870000	0.34147	0.852000	0.48524	1.302000	0.33459	0.694000	0.31654	0.561000	0.74099	CCT		0.398	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1		NM_006437		7	65	0	0	0	0.008291	0	7	65		
WASF3	10810	broad.mit.edu	37	13	27239225	27239225	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:27239225G>A	ENST00000335327.5	+	4	372	c.194G>A	c.(193-195)aGa>aAa	p.R65K	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Missense_Mutation_p.R65K	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	65					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TTCTACATCAGAGCAAATTCT	0.423																																						uc001uqv.2		NaN																	0				pancreas(1)	1						c.(193-195)AGA>AAA		WAS protein family, member 3							108.0	100.0	103.0					13																	27239225		2203	4300	6503	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27239225G>A	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.194G>A	13.37:g.27239225G>A	ENSP00000335055:p.Arg65Lys					WASF3_uc001uqw.2_Missense_Mutation_p.R65K	p.R65K	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	4	419	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	65			Potential.		O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.194G>A	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	G	35	5.536489	0.96460	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.66099	-0.19;-0.19	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.81168	0.4766	M	0.79805	2.47	0.58432	D	0.999999	D;P	0.76494	0.999;0.94	D;P	0.85130	0.997;0.774	T	0.80502	-0.1354	10	0.44086	T	0.13	-22.3431	19.6999	0.96048	0.0:0.0:1.0:0.0	.	65;65	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	K	65	ENSP00000354325:R65K;ENSP00000335055:R65K	ENSP00000335055:R65K	R	+	2	0	WASF3	26137225	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.258000	0.95555	2.659000	0.90383	0.650000	0.86243	AGA		0.423	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1				10	65	0	0	0	0.008291	0	10	65		
LNX2	222484	broad.mit.edu	37	13	28141891	28141891	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:28141891G>A	ENST00000316334.3	-	4	870	c.741C>T	c.(739-741)atC>atT	p.I247I		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	247	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CCACAATGCTGATTCCTAACT	0.458																																						uc001url.3		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6						c.(739-741)ATC>ATT		ligand of numb-protein X 2							150.0	134.0	139.0					13																	28141891		2203	4300	6503	SO:0001819	synonymous_variant	222484						zinc ion binding	g.chr13:28141891G>A	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.741C>T	13.37:g.28141891G>A						LNX2_uc001urm.1_Silent_p.I247I	p.I247I	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	4	1050	-		Lung SC(185;0.0156)	247			PDZ 1.		Q5W0P0|Q6ZMH2|Q96SH4	Silent	SNP	ENST00000316334.3	37	c.741C>T	CCDS9323.1																																																																																				0.458	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2				6	53	0	0	0	0.001168	0	6	53		
USPL1	10208	broad.mit.edu	37	13	31233420	31233420	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:31233420C>T	ENST00000255304.4	+	9	3548	c.3206C>T	c.(3205-3207)tCa>tTa	p.S1069L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1069					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTTTCCTCCTCAGCATTAAAT	0.343																																					Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2		NaN																	0				pancreas(2)|skin(1)	3						c.(3205-3207)TCA>TTA		ubiquitin specific peptidase like 1							76.0	78.0	77.0					13																	31233420		2203	4300	6503	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31233420C>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.3206C>T	13.37:g.31233420C>T	ENSP00000255304:p.Ser1069Leu					USPL1_uc001utd.2_Missense_Mutation_p.S740L|USPL1_uc001ute.1_Missense_Mutation_p.S740L	p.S1069L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	3638	+		Lung SC(185;0.0257)|Breast(139;0.203)	1069					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.3206C>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721287	0.48728	.	.	ENSG00000132952	ENST00000255304	T	0.38401	1.14	5.19	5.19	0.71726	.	0.124071	0.37053	N	0.002277	T	0.56124	0.1964	M	0.66939	2.045	0.35929	D	0.832403	D	0.67145	0.996	P	0.60886	0.88	T	0.67971	-0.5532	10	0.87932	D	0	-12.5324	16.8897	0.86084	0.0:1.0:0.0:0.0	.	1069	Q5W0Q7	USPL1_HUMAN	L	1069	ENSP00000255304:S1069L	ENSP00000255304:S1069L	S	+	2	0	USPL1	30131420	0.977000	0.34250	0.093000	0.20910	0.046000	0.14306	4.642000	0.61383	2.427000	0.82271	0.557000	0.71058	TCA		0.343	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1		NM_005800		5	39	0	0	0	0.000602	0	5	39		
FRY	10129	broad.mit.edu	37	13	32709061	32709061	+	Silent	SNP	C	C	T	rs34037604		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:32709061C>T	ENST00000380250.3	+	9	1402	c.906C>T	c.(904-906)ctC>ctT	p.L302L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	302						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTACTTCCTCGAGGTCAAAG	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18194	0.0		0.0	False		,,,				2504	0.0					uc001utx.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(904-906)CTC>CTT		furry homolog		C		3,3773		0,3,1885	156.0	149.0	151.0		906	-12.3	0.0	13	dbSNP_126	151	0,8202		0,0,4101	no	coding-synonymous	FRY	NM_023037.2		0,3,5986	TT,TC,CC		0.0,0.0794,0.025		302/3014	32709061	3,11975	1888	4101	5989	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32709061C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.906C>T	13.37:g.32709061C>T						FRY_uc010tdw.1_RNA	p.L302L	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	9	1402	+		Lung SC(185;0.0271)	302					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.906C>T	CCDS41875.1																																																																																				0.388	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037		22	126	0	0	0	0.003271	0	22	126		
FRY	10129	broad.mit.edu	37	13	32721489	32721489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:32721489G>A	ENST00000380250.3	+	12	1746	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	417						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TACATGATTCGAATTAAATGT	0.398																																						uc001utx.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(1249-1251)CGA>CAA		furry homolog							94.0	88.0	90.0					13																	32721489		1868	4116	5984	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32721489G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1250G>A	13.37:g.32721489G>A	ENSP00000369600:p.Arg417Gln					FRY_uc010tdw.1_RNA	p.R417Q	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	12	1746	+		Lung SC(185;0.0271)	417					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.1250G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	36	5.716081	0.96830	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.51325	0.71	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78889	-0.2026	10	0.87932	D	0	.	19.4345	0.94786	0.0:0.0:1.0:0.0	.	417	Q5TBA9	FRY_HUMAN	Q	417;345	ENSP00000369600:R417Q	ENSP00000267067:R345Q	R	+	2	0	FRY	31619489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.677000	0.91161	0.561000	0.74099	CGA		0.398	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037		3	27	0	0	0	0.004672	0	3	27		
N4BP2L2	10443	broad.mit.edu	37	13	33017213	33017213	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:33017213C>T	ENST00000504114.1	-	6	1507	c.1416G>A	c.(1414-1416)agG>agA	p.R472R	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Silent_p.R487R|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000357505.6_Silent_p.R472R			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTTTCTTCCTCCTTTTCTTAT	0.343																																						uc010abe.1		NaN																	0					0						c.(1459-1461)AGG>AGA		phosphonoformate immuno-associated protein 5							92.0	81.0	84.0					13																	33017213		1821	4073	5894	SO:0001819	synonymous_variant	10443							g.chr13:33017213C>T	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1416G>A	13.37:g.33017213C>T						N4BP2L2_uc001uug.2_Silent_p.R370R|N4BP2L2_uc010abd.1_Silent_p.R400R|N4BP2L2_uc001uuh.2_Silent_p.R318R|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Silent_p.R472R	p.R487R	NM_033111	NP_149102	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	1483	-		Lung SC(185;0.0262)	140					A3KME8	Silent	SNP	ENST00000504114.1	37	c.1461G>A																																																																																					0.343	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1		NM_014887		4	15	0	0	0	0.001168	0	4	15		
STARD13	90627	broad.mit.edu	37	13	33700224	33700224	+	Silent	SNP	G	G	C	rs373241738		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:33700224G>C	ENST00000336934.5	-	7	2192	c.2076C>G	c.(2074-2076)ctC>ctG	p.L692L	STARD13_ENST00000399365.3_Silent_p.L574L|STARD13_ENST00000255486.4_Silent_p.L684L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	692	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.L692L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTACCTGATCGAGGCAGTTGC	0.552																																						uc001uuw.2		NaN																	1	Substitution - coding silent(1)		breast(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(2074-2076)CTC>CTG		StAR-related lipid transfer (START) domain							130.0	106.0	114.0					13																	33700224		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33700224G>C	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2076C>G	13.37:g.33700224G>C						STARD13_uc001uuu.2_Silent_p.L684L|STARD13_uc001uuv.2_Silent_p.L574L|STARD13_uc001uux.2_Silent_p.L657L|STARD13_uc010tec.1_RNA	p.L692L	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	7	2202	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	692			Rho-GAP.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.2076C>G	CCDS9348.1																																																																																				0.552	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2		NM_001243466		15	107	0	0	0	0.006122	0	15	107		
FREM2	341640	broad.mit.edu	37	13	39433625	39433625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:39433625C>T	ENST00000280481.7	+	14	7633	c.7417C>T	c.(7417-7419)Cag>Tag	p.Q2473*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2473					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATATACTTTCAGCCTGGCTC	0.542																																						uc001uwv.2		NaN																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(7417-7419)CAG>TAG		FRAS1-related extracellular matrix protein 2							113.0	104.0	107.0					13																	39433625		2203	4300	6503	SO:0001587	stop_gained	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39433625C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7417C>T	13.37:g.39433625C>T	ENSP00000280481:p.Gln2473*					FREM2_uc001uww.2_Nonsense_Mutation_p.Q559*	p.Q2473*	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	14	7726	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2473			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Nonsense_Mutation	SNP	ENST00000280481.7	37	c.7417C>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	50	16.600280	0.99867	.	.	ENSG00000150893	ENST00000280481	.	.	.	6.16	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	15.7724	0.78180	0.0:0.935:0.0:0.065	.	.	.	.	X	2473	.	ENSP00000280481:Q2473X	Q	+	1	0	FREM2	38331625	1.000000	0.71417	0.985000	0.45067	0.951000	0.60555	4.766000	0.62279	1.623000	0.50342	0.650000	0.86243	CAG		0.542	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		13	80	0	0	0	0.003163	0	13	80		
KBTBD7	84078	broad.mit.edu	37	13	41767323	41767323	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:41767323G>C	ENST00000379483.3	-	1	1379	c.1071C>G	c.(1069-1071)ctC>ctG	p.L357L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	357										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GGTCATAGCAGAGAAAGGGAT	0.502																																						uc001uxw.1		NaN																	0				ovary(1)	1						c.(1069-1071)CTC>CTG		kelch repeat and BTB (POZ) domain containing 7							91.0	71.0	78.0					13																	41767323		2203	4300	6503	SO:0001819	synonymous_variant	84078						protein binding	g.chr13:41767323G>C	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1071C>G	13.37:g.41767323G>C						uc001uxv.1_Intron	p.L357L	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1380	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	357					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Silent	SNP	ENST00000379483.3	37	c.1071C>G	CCDS9377.1																																																																																				0.502	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1		NM_032138		3	38	0	0	0	0.004482	0	3	38		
TSC22D1	8848	broad.mit.edu	37	13	45148962	45148962	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:45148962C>G	ENST00000458659.2	-	1	1739	c.1249G>C	c.(1249-1251)Gag>Cag	p.E417Q	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Missense_Mutation_p.E417Q	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	417					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TTAAAGGGCTCAGAACTAGAA	0.438																																						uc001uzn.3		NaN																	0					0						c.(1249-1251)GAG>CAG		TSC22 domain family, member 1 isoform 1							109.0	106.0	107.0					13																	45148962		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148962C>G	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1249G>C	13.37:g.45148962C>G	ENSP00000397435:p.Glu417Gln					TSC22D1_uc001uzo.1_Missense_Mutation_p.E417Q	p.E417Q	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1740	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	417					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.1249G>C	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800688	0.70567	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	T	0.65732	-0.17	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000009	T	0.78310	0.4263	M	0.73598	2.24	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.78411	-0.2214	10	0.41790	T	0.15	.	16.3799	0.83452	0.0:1.0:0.0:0.0	.	417;417	B3KRL7;Q15714	.;T22D1_HUMAN	Q	417	ENSP00000397435:E417Q	ENSP00000397435:E417Q	E	-	1	0	TSC22D1	44046962	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.453000	0.82957	0.561000	0.74099	GAG		0.438	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2		NM_006022		13	67	0	0	0	0.00245	0	13	67		
GPALPP1	55425	broad.mit.edu	37	13	45589108	45589108	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:45589108G>C	ENST00000379151.4	+	5	533	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	GPALPP1_ENST00000361121.2_Missense_Mutation_p.E144Q|GPALPP1_ENST00000357537.3_5'UTR|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	144																	CAGTGAAGATGAGGATATTAT	0.348																																						uc001uzq.2		NaN																	0				pancreas(1)|skin(1)	2						c.(430-432)GAG>CAG		hypothetical protein LOC55425							92.0	93.0	93.0					13																	45589108		2203	4300	6503	SO:0001583	missense	55425							g.chr13:45589108G>C	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.430G>C	13.37:g.45589108G>C	ENSP00000368447:p.Glu144Gln					KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_Missense_Mutation_p.E144Q|KIAA1704_uc001uzs.2_Missense_Mutation_p.E21Q|KIAA1704_uc001uzt.2_5'UTR	p.E144Q	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	5	533	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	144					A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	ENST00000379151.4	37	c.430G>C	CCDS9394.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099636	0.94197	.	.	ENSG00000133114	ENST00000379151;ENST00000361121	.	.	.	5.9	5.9	0.94986	.	0.196868	0.53938	D	0.000058	T	0.74772	0.3760	M	0.72118	2.19	0.80722	D	1	D	0.60160	0.987	P	0.54856	0.762	T	0.75701	-0.3226	9	0.56958	D	0.05	-3.3414	19.2671	0.93993	0.0:0.0:1.0:0.0	.	144	Q8IXQ4	K1704_HUMAN	Q	144	.	ENSP00000355211:E144Q	E	+	1	0	KIAA1704	44487108	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.858000	0.92256	2.788000	0.95919	0.650000	0.86243	GAG		0.348	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2		NM_018559		10	48	0	0	0	0.001855	0	10	48		
KIAA0226L	80183	broad.mit.edu	37	13	46942258	46942258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:46942258G>A	ENST00000429979.1	-	5	1349	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	KIAA0226L_ENST00000322896.6_Nonsense_Mutation_p.Q92*|KIAA0226L_ENST00000378787.3_Nonsense_Mutation_p.Q249*|KIAA0226L_ENST00000378797.2_Nonsense_Mutation_p.Q249*|KIAA0226L_ENST00000534925.1_Nonsense_Mutation_p.Q114*|KIAA0226L_ENST00000378784.4_Nonsense_Mutation_p.Q182*|KIAA0226L_ENST00000378781.3_Nonsense_Mutation_p.Q249*|KIAA0226L_ENST00000389908.3_Nonsense_Mutation_p.Q249*|KIAA0226L_ENST00000409879.2_Nonsense_Mutation_p.Q92*	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	249										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GAGTCAGGCTGATCACTCCCA	0.408																																						uc010acl.2		NaN																	0					0						c.(745-747)CAG>TAG		hypothetical protein LOC80183							173.0	154.0	160.0					13																	46942258		2203	4300	6503	SO:0001587	stop_gained	80183							g.chr13:46942258G>A	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.745C>T	13.37:g.46942258G>A	ENSP00000396935:p.Gln249*					C13orf18_uc001vbf.3_Nonsense_Mutation_p.Q182*|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Nonsense_Mutation_p.Q92*|C13orf18_uc010acm.2_Nonsense_Mutation_p.Q114*|C13orf18_uc010acn.2_Nonsense_Mutation_p.Q34*|C13orf18_uc001vbe.3_Nonsense_Mutation_p.Q249*|C13orf18_uc001vbh.3_Nonsense_Mutation_p.Q249*|C13orf18_uc001vbi.3_Nonsense_Mutation_p.Q92*|C13orf18_uc010aco.1_Nonsense_Mutation_p.Q249*	p.Q249*	NM_025113	NP_079389	Q9H714	CM018_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)	5	1350	-		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	249					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Nonsense_Mutation	SNP	ENST00000429979.1	37	c.745C>T	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255081	0.59321	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925;ENST00000417405	.	.	.	5.03	3.24	0.37175	.	1.062520	0.07275	N	0.869867	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	1.9762	13.3715	0.60715	0.0:0.3002:0.6998:0.0	.	.	.	.	X	249;249;249;182;249;249;92;92;114;114	.	ENSP00000315633:Q92X	Q	-	1	0	KIAA0226L	45840259	0.063000	0.20901	0.000000	0.03702	0.366000	0.29705	2.528000	0.45624	0.588000	0.29660	0.655000	0.94253	CAG		0.408	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2		NM_025113		16	83	0	0	0	0.010504	0	16	83		
LRCH1	23143	broad.mit.edu	37	13	47263286	47263286	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:47263286G>C	ENST00000389798.3	+	7	1166	c.969G>C	c.(967-969)tcG>tcC	p.S323S	LRCH1_ENST00000389797.3_Silent_p.S323S|LRCH1_ENST00000311191.6_Silent_p.S323S	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	323										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ATTCTGATTCGGGAGTTGGAA	0.343																																						uc001vbj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(967-969)TCG>TCC		leucine-rich repeats and calponin homology (CH)							156.0	154.0	154.0					13																	47263286		2203	4300	6503	SO:0001819	synonymous_variant	23143							g.chr13:47263286G>C	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.969G>C	13.37:g.47263286G>C						LRCH1_uc010acp.2_Silent_p.S323S|LRCH1_uc001vbk.2_Silent_p.S323S|LRCH1_uc001vbl.3_Silent_p.S323S	p.S323S	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	7	1205	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	323					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	ENST00000389798.3	37	c.969G>C	CCDS31972.1																																																																																				0.343	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2		NM_015116		34	102	0	0	0	0.013114	0	34	102		
LRCH1	23143	broad.mit.edu	37	13	47263293	47263293	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:47263293G>A	ENST00000389798.3	+	7	1173	c.976G>A	c.(976-978)Gga>Aga	p.G326R	LRCH1_ENST00000389797.3_Missense_Mutation_p.G326R|LRCH1_ENST00000311191.6_Missense_Mutation_p.G326R	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	326				G -> V (in Ref. 5; AAI43884). {ECO:0000305}.						breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTCGGGAGTTGGAAGTGATAA	0.353																																						uc001vbj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(976-978)GGA>AGA		leucine-rich repeats and calponin homology (CH)							161.0	159.0	160.0					13																	47263293		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47263293G>A	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.976G>A	13.37:g.47263293G>A	ENSP00000374448:p.Gly326Arg					LRCH1_uc010acp.2_Missense_Mutation_p.G326R|LRCH1_uc001vbk.2_Missense_Mutation_p.G326R|LRCH1_uc001vbl.3_Missense_Mutation_p.G326R	p.G326R	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	7	1212	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	326					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.976G>A	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582230	0.86748	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797;ENST00000463929;ENST00000478412	T;T;T	0.57273	0.41;0.46;0.41	5.58	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	M	0.81341	2.54	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.989;1.0;0.981	T	0.75628	-0.3252	10	0.52906	T	0.07	-11.6664	13.5203	0.61563	0.0745:0.0:0.9255:0.0	.	326;326;326;326	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	R	326;326;326;72;72	ENSP00000308493:G326R;ENSP00000374448:G326R;ENSP00000374447:G326R	ENSP00000308493:G326R	G	+	1	0	LRCH1	46161294	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.462000	0.90374	1.370000	0.46153	-0.136000	0.14681	GGA		0.353	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2		NM_015116		32	109	0	0	0	0.00361	0	32	109		
PHF11	51131	broad.mit.edu	37	13	50080827	50080827	+	Missense_Mutation	SNP	G	G	A	rs73188692		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:50080827G>A	ENST00000378319.3	+	2	192	c.151G>A	c.(151-153)Gat>Aat	p.D51N	PHF11_ENST00000488958.1_Missense_Mutation_p.D12N|PHF11_ENST00000357596.3_Missense_Mutation_p.D12N	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	51					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CTGCCCCAAAGATGTCGAATA	0.363																																						uc001vdb.2		NaN																	0					0						c.(151-153)GAT>AAT		PHD finger protein 11 isoform a							122.0	106.0	112.0					13																	50080827		2203	4300	6503	SO:0001583	missense	51131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr13:50080827G>A	AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147		"""Zinc fingers, PHD-type"""	17024	protein-coding gene	gene with protein product	"""IgE responsiveness (atopic)"""	607796				10508479, 15057823	Standard	XM_005266417		Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.151G>A	13.37:g.50080827G>A	ENSP00000367570:p.Asp51Asn					PHF11_uc010tgl.1_Missense_Mutation_p.D51N|PHF11_uc001vdc.2_Missense_Mutation_p.D12N|PHF11_uc001vdd.2_RNA	p.D51N	NM_001040443	NP_001035533	Q9UIL8	PHF11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)	2	488	+		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	51					Q5W0A4|Q5W0A6|Q9Y5A2	Missense_Mutation	SNP	ENST00000378319.3	37	c.151G>A	CCDS31975.1	.	.	.	.	.	.	.	.	.	.	G	9.675	1.147704	0.21288	.	.	ENSG00000136147	ENST00000378319;ENST00000357596;ENST00000485919;ENST00000442195;ENST00000488958	T;T;T;T;T	0.79749	-0.89;-0.86;-1.3;-0.81;-0.86	4.78	3.93	0.45458	.	0.686315	0.13228	N	0.403842	T	0.77322	0.4113	L	0.48642	1.525	0.09310	N	1	P;D	0.53151	0.911;0.958	P;P	0.47015	0.476;0.534	T	0.65500	-0.6153	10	0.32370	T	0.25	-2.1483	10.5136	0.44876	0.0916:0.0:0.9084:0.0	.	51;51	B4DTX8;Q9UIL8	.;PHF11_HUMAN	N	51;12;12;12;12	ENSP00000367570:D51N;ENSP00000350209:D12N;ENSP00000420129:D12N;ENSP00000405227:D12N;ENSP00000417539:D12N	ENSP00000350209:D12N	D	+	1	0	PHF11	48978828	0.931000	0.31567	0.048000	0.18961	0.004000	0.04260	2.647000	0.46639	1.400000	0.46741	0.650000	0.86243	GAT		0.363	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044915.1		NM_016119		8	48	0	0	0	0.008291	0	8	48		
TBC1D4	9882	broad.mit.edu	37	13	75861065	75861065	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:75861065C>G	ENST00000377636.3	-	21	4106	c.3760G>C	c.(3760-3762)Gaa>Caa	p.E1254Q	TBC1D4_ENST00000377625.2_Missense_Mutation_p.E1191Q|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E1246Q|TBC1D4_ENST00000425511.1_Missense_Mutation_p.E418Q	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1254					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCCATTTTTTCTTGTTCCAGG	0.453																																						uc001vjl.1		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3760-3762)GAA>CAA		TBC1 domain family, member 4							127.0	123.0	124.0					13																	75861065		1839	4095	5934	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75861065C>G	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3760G>C	13.37:g.75861065C>G	ENSP00000366863:p.Glu1254Gln					TBC1D4_uc010tht.1_Missense_Mutation_p.E464Q|TBC1D4_uc010thu.1_Missense_Mutation_p.E411Q|TBC1D4_uc010aer.2_Missense_Mutation_p.E1246Q|TBC1D4_uc010aes.2_Missense_Mutation_p.E1191Q	p.E1254Q	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	21	4107	-		Prostate(6;0.014)|Breast(118;0.0982)	1254					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.3760G>C	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401408	0.83120	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511	T;T;T;T	0.77750	3.84;3.87;3.91;-1.12	5.63	5.63	0.86233	.	0.182212	0.38326	N	0.001732	D	0.85779	0.5776	M	0.75777	2.31	0.58432	D	0.999999	B;D;B;P	0.53312	0.324;0.959;0.295;0.892	B;P;B;P	0.57720	0.183;0.826;0.28;0.588	T	0.81697	-0.0815	10	0.21540	T	0.41	-16.5656	20.0499	0.97621	0.0:1.0:0.0:0.0	.	418;1191;1246;1254	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	Q	1254;1246;1191;418	ENSP00000366863:E1254Q;ENSP00000395986:E1246Q;ENSP00000366852:E1191Q;ENSP00000390654:E418Q	ENSP00000366852:E1191Q	E	-	1	0	TBC1D4	74759066	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.256000	0.78350	2.798000	0.96311	0.655000	0.94253	GAA		0.453	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1		NM_014832		4	40	0	0	0	0.001168	0	4	40		
RBM26	64062	broad.mit.edu	37	13	79942973	79942973	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:79942973G>T	ENST00000438737.2	-	6	1227	c.787C>A	c.(787-789)Cat>Aat	p.H263N	RBM26_ENST00000461008.1_5'Flank|RBM26_ENST00000267229.7_Missense_Mutation_p.H263N|RBM26_ENST00000438724.1_Missense_Mutation_p.H263N			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	263					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTGTTTCCATGATGAGTAGGA	0.418																																						uc001vkz.2		NaN																	0				ovary(1)	1						c.(787-789)CAT>AAT		RNA binding motif protein 26							200.0	181.0	188.0					13																	79942973		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79942973G>T	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.787C>A	13.37:g.79942973G>T	ENSP00000387531:p.His263Asn					RBM26_uc001vky.2_Missense_Mutation_p.H263N|RBM26_uc001vla.2_Missense_Mutation_p.H263N|RBM26_uc001vkx.2_5'UTR|RBM26_uc001vlb.1_RNA	p.H263N	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	6	801	-		Acute lymphoblastic leukemia(28;0.0279)	263					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.787C>A		.	.	.	.	.	.	.	.	.	.	G	26.4	4.738941	0.89573	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.46451	0.87;0.87	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.62925	0.2468	L	0.58101	1.795	0.80722	D	1	D;D;D	0.63880	0.99;0.993;0.988	D;D;D	0.73380	0.98;0.968;0.971	T	0.57636	-0.7777	9	.	.	.	-17.7047	20.0172	0.97481	0.0:0.0:1.0:0.0	.	263;263;263	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	N	263;264;263;263	ENSP00000267229:H263N;ENSP00000390222:H263N	.	H	-	1	0	RBM26	78840974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.230000	0.95299	2.723000	0.93209	0.585000	0.79938	CAT		0.418	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4		NM_022118		7	74	1	0	2.17888e-05	0.006214	2.25545e-05	7	74		
RBM26	64062	broad.mit.edu	37	13	79943032	79943032	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:79943032G>C	ENST00000438737.2	-	6	1168	c.728C>G	c.(727-729)tCt>tGt	p.S243C	RBM26_ENST00000461008.1_5'Flank|RBM26_ENST00000267229.7_Missense_Mutation_p.S243C|RBM26_ENST00000438724.1_Missense_Mutation_p.S243C			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	243					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTAGTGGCCAGATGAAATACT	0.393																																						uc001vkz.2		NaN																	0				ovary(1)	1						c.(727-729)TCT>TGT		RNA binding motif protein 26							179.0	170.0	173.0					13																	79943032		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79943032G>C	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.728C>G	13.37:g.79943032G>C	ENSP00000387531:p.Ser243Cys					RBM26_uc001vky.2_Missense_Mutation_p.S243C|RBM26_uc001vla.2_Missense_Mutation_p.S243C|RBM26_uc001vkx.2_Translation_Start_Site|RBM26_uc001vlb.1_RNA	p.S243C	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	6	742	-		Acute lymphoblastic leukemia(28;0.0279)	243					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.728C>G		.	.	.	.	.	.	.	.	.	.	G	24.9	4.586348	0.86851	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.51817	0.69;0.69	5.79	5.79	0.91817	.	0.168962	0.53938	D	0.000049	T	0.59662	0.2210	L	0.34521	1.04	0.58432	D	0.999996	D;D;D	0.71674	0.998;0.998;0.998	D;P;D	0.70016	0.967;0.747;0.951	T	0.53308	-0.8457	9	.	.	.	-13.208	20.0367	0.97561	0.0:0.0:1.0:0.0	.	243;243;243	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	C	243;244;243;243	ENSP00000267229:S243C;ENSP00000390222:S243C	.	S	-	2	0	RBM26	78841033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.294000	0.78760	2.727000	0.93392	0.591000	0.81541	TCT		0.393	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4		NM_022118		8	80	0	0	0	0.010729	0	8	80		
SLITRK5	26050	broad.mit.edu	37	13	88328435	88328435	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:88328435T>A	ENST00000325089.6	+	2	1011	c.792T>A	c.(790-792)tgT>tgA	p.C264*	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	264	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATGTAGTTTGTGAGACCCCCT	0.507																																						uc001vln.2		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(790-792)TGT>TGA		SLIT and NTRK-like family, member 5 precursor							93.0	93.0	93.0					13																	88328435		2203	4300	6503	SO:0001587	stop_gained	26050					integral to membrane		g.chr13:88328435T>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.792T>A	13.37:g.88328435T>A	ENSP00000366283:p.Cys264*					SLITRK5_uc010tic.1_Intron	p.C264*	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1011	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		264			LRRCT 1.|Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Nonsense_Mutation	SNP	ENST00000325089.6	37	c.792T>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	T	31	5.080203	0.94050	.	.	ENSG00000165300	ENST00000325089	.	.	.	5.76	-0.717	0.11208	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.9973	9.7975	0.40744	0.0:0.4965:0.0:0.5035	.	.	.	.	X	264	.	.	C	+	3	2	SLITRK5	87126436	0.882000	0.30256	0.998000	0.56505	0.977000	0.68977	-0.053000	0.11846	-0.092000	0.12417	0.402000	0.26972	TGT		0.507	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3				6	123	0	0	0	0.006214	0	6	123		
METTL21C	196541	broad.mit.edu	37	13	103343304	103343304	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:103343304C>G	ENST00000267273.6	-	2	146	c.141G>C	c.(139-141)aaG>aaC	p.K47N		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	47					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						ATGGTTCTATCTTGTTGGATT	0.393																																						uc001vpj.2		NaN																	0					0						c.(139-141)AAG>AAC		hypothetical protein LOC196541							126.0	121.0	122.0					13																	103343304		2203	4300	6503	SO:0001583	missense	196541						methyltransferase activity	g.chr13:103343304C>G		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.141G>C	13.37:g.103343304C>G	ENSP00000267273:p.Lys47Asn					C13orf39_uc001vpk.2_Missense_Mutation_p.K47N	p.K47N	NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN			2	147	-			47						Missense_Mutation	SNP	ENST00000267273.6	37	c.141G>C	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	C	8.518	0.868050	0.17250	.	.	ENSG00000139780	ENST00000267273	T	0.14893	2.47	6.16	-1.61	0.08399	.	2.137960	0.01391	N	0.013259	T	0.10981	0.0268	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23976	-1.0173	10	0.25751	T	0.34	-9.0953	5.6006	0.17351	0.1171:0.2176:0.5193:0.146	.	47	Q5VZV1	MT21C_HUMAN	N	47	ENSP00000267273:K47N	ENSP00000267273:K47N	K	-	3	2	METTL21C	102141305	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.722000	0.04958	-0.067000	0.12976	-0.145000	0.13849	AAG		0.393	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2		NM_001010977		9	68	0	0	0	0.008291	0	9	68		
MYO16	23026	broad.mit.edu	37	13	109535458	109535458	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:109535458C>G	ENST00000357550.2	+	12	1452	c.1411C>G	c.(1411-1413)Cct>Gct	p.P471A	MYO16_ENST00000356711.2_Missense_Mutation_p.P471A|MYO16_ENST00000251041.5_Missense_Mutation_p.P471A	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTCGCTGCCTCCTCACCTCTT	0.562																																						uc001vqt.1		NaN																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(1411-1413)CCT>GCT		myosin heavy chain Myr 8							171.0	145.0	154.0					13																	109535458		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109535458C>G		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1411C>G	13.37:g.109535458C>G	ENSP00000350160:p.Pro471Ala					MYO16_uc010agk.1_Missense_Mutation_p.P493A|MYO16_uc001vqu.1_Missense_Mutation_p.P271A	p.P471A	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		13	1537	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		471			Myosin head-like 1.			Missense_Mutation	SNP	ENST00000357550.2	37	c.1411C>G	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643628	0.47258	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	D;D;D	0.99232	-5.6;-5.6;-5.6	5.34	5.34	0.76211	Myosin head, motor domain (2);	0.178955	0.26631	N	0.023319	D	0.99658	0.9873	H	0.98133	4.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.913;0.996	D	0.97617	1.0133	9	.	.	.	.	14.9495	0.71060	0.0:1.0:0.0:0.0	.	471;471	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	A	471;471;471;471;259	ENSP00000349145:P471A;ENSP00000350160:P471A;ENSP00000251041:P471A	.	P	+	1	0	MYO16	108333459	1.000000	0.71417	0.231000	0.23993	0.476000	0.33039	6.185000	0.72013	2.671000	0.90904	0.650000	0.86243	CCT		0.562	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1		NM_015011		19	177	0	0	0	0.002299	0	19	177		
COL4A2	1284	broad.mit.edu	37	13	110960258	110960258	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:110960258G>A	ENST00000360467.5	+	2	314	c.8G>A	c.(7-9)aGa>aAa	p.R3K	COL4A1_ENST00000543140.1_5'Flank|COL4A1_ENST00000375820.4_5'Flank	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	3					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGCATGGGGAGAGACCAGCGC	0.662																																						uc001vqx.2		NaN																	0				skin(3)|central_nervous_system(2)|ovary(1)	6						c.(7-9)AGA>AAA		alpha 2 type IV collagen preproprotein							25.0	31.0	29.0					13																	110960258		1980	4143	6123	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:110960258G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.8G>A	13.37:g.110960258G>A	ENSP00000353654:p.Arg3Lys					COL4A1_uc001vqw.3_5'Flank|COL4A1_uc010agl.2_5'Flank	p.R3K	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		2	297	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	3					Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.8G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799870	0.50208	.	.	ENSG00000134871	ENST00000400163;ENST00000360467;ENST00000257309	D;D	0.91068	-2.78;-2.73	3.59	1.76	0.24704	.	.	.	.	.	T	0.79381	0.4436	N	0.19112	0.55	0.09310	N	1	B	0.25105	0.118	B	0.17433	0.018	T	0.63571	-0.6607	9	0.21014	T	0.42	.	4.866	0.13609	0.1245:0.2197:0.6558:0.0	.	3	P08572	CO4A2_HUMAN	K	3	ENSP00000383027:R3K;ENSP00000353654:R3K	ENSP00000257309:R3K	R	+	2	0	COL4A2	109758259	0.005000	0.15991	0.000000	0.03702	0.233000	0.25261	1.476000	0.35420	0.292000	0.22492	0.561000	0.74099	AGA		0.662	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2		NM_001846		10	86	0	0	0	0.00245	0	10	86		
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																						uc001vup.2		NaN																	8	Substitution - coding silent(8)		lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	skin(1)	1						c.(271-273)CTG>TTG		UPF3 regulator of nonsense transcripts homolog A							4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115047559C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T						UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA	p.L91L	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	2	308	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	91			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.271C>T	CCDS9543.1																																																																																				0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2				3	20	0	0	0	0.004672	0	3	20		
OR4K15	81127	broad.mit.edu	37	14	20444469	20444469	+	Silent	SNP	G	G	A	rs201782415		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:20444469G>A	ENST00000305051.5	+	1	867	c.792G>A	c.(790-792)ttG>ttA	p.L264L		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTCCACATTGACTGCTCACA	0.463																																						uc010tkx.1		NaN																	0				ovary(1)	1						c.(790-792)TTG>TTA		olfactory receptor, family 4, subfamily K,							141.0	119.0	126.0					14																	20444469		2203	4299	6502	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444469G>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.792G>A	14.37:g.20444469G>A							p.L264L	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	792	+	all_cancers(95;0.00108)		264			Helical; Name=6; (Potential).		B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.792G>A	CCDS32026.1																																																																																				0.463	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1				4	28	0	0	0	0.000602	0	4	28		
FITM1	161247	broad.mit.edu	37	14	24601689	24601689	+	Missense_Mutation	SNP	G	G	A	rs147303563		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:24601689G>A	ENST00000267426.5	+	2	825	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	179					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CACCAGTGGCGAGGCTACACC	0.652																																						uc001wmf.2		NaN																	0					0						c.(535-537)CGA>CAA		fat-inducing transcript 1							39.0	35.0	36.0					14																	24601689		2197	4295	6492	SO:0001583	missense	161247				lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane		g.chr14:24601689G>A		CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"""fat-inducing transcript 1"""	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.536G>A	14.37:g.24601689G>A	ENSP00000267426:p.Arg179Gln						p.R179Q	NM_203402	NP_981947	A5D6W6	FITM1_HUMAN			2	634	+			179			Extracellular (Potential).		Q8IUQ7	Missense_Mutation	SNP	ENST00000267426.5	37	c.536G>A	CCDS9611.1	.	.	.	.	.	.	.	.	.	.	g	13.63	2.294681	0.40594	.	.	ENSG00000139914	ENST00000267426	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	N	0.25647	0.755	0.80722	D	1	B	0.33238	0.403	B	0.26969	0.075	T	0.13899	-1.0492	9	0.12103	T	0.63	-6.6426	9.6755	0.40039	0.0951:0.0:0.9049:0.0	.	179	A5D6W6	FITM1_HUMAN	Q	179	.	ENSP00000267426:R179Q	R	+	2	0	FITM1	23671529	0.686000	0.27661	1.000000	0.80357	0.757000	0.42996	2.533000	0.45667	2.382000	0.81193	0.462000	0.41574	CGA		0.652	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257366.1		NM_203402		14	94	0	0	0	0.00499	0	14	94		
DHRS1	115817	broad.mit.edu	37	14	24768168	24768168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:24768168G>A	ENST00000288111.7	-	2	421	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	DHRS1_ENST00000396813.1_Nonsense_Mutation_p.Q49*|NOP9_ENST00000267425.3_5'Flank|NOP9_ENST00000396802.3_5'Flank	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	49						endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		CTCACCTCCTGAGCAACAACG	0.547																																						uc001woj.1		NaN																	0					0						c.(145-147)CAG>TAG		dehydrogenase/reductase (SDR family) member 1							59.0	57.0	57.0					14																	24768168		2203	4300	6503	SO:0001587	stop_gained	115817					endoplasmic reticulum	binding|oxidoreductase activity	g.chr14:24768168G>A	AK058159	CCDS9623.1	14q11.2	2011-09-14			ENSG00000157379	ENSG00000157379	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16445	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 19C, member 1"""	610410				12153138, 19027726	Standard	NM_138452		Approved	FLJ25430, MGC20204, SDR19C1	uc001wok.3	Q96LJ7	OTTHUMG00000029333	ENST00000288111.7:c.145C>T	14.37:g.24768168G>A	ENSP00000288111:p.Gln49*					C14orf21_uc001wol.1_5'Flank|DHRS1_uc001wok.2_Nonsense_Mutation_p.Q49*	p.Q49*	NM_138452	NP_612461	Q96LJ7	DHRS1_HUMAN		GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)	2	414	-			49					D3DS71|Q8NDG3|Q96B59|Q96CQ5	Nonsense_Mutation	SNP	ENST00000288111.7	37	c.145C>T	CCDS9623.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371350	0.95923	.	.	ENSG00000157379	ENST00000288111;ENST00000396813	.	.	.	5.15	-2.26	0.06867	.	0.838686	0.10924	N	0.619117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-20.7301	19.461	0.94916	0.0:0.754:0.246:0.0	.	.	.	.	X	49	.	ENSP00000288111:Q49X	Q	-	1	0	DHRS1	23838008	0.083000	0.21467	0.907000	0.35723	0.905000	0.53344	-0.436000	0.06922	-0.231000	0.09825	0.655000	0.94253	CAG		0.547	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073168.4		NM_138452		19	94	0	0	0	0.010504	0	19	94		
STXBP6	29091	broad.mit.edu	37	14	25288302	25288302	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:25288302C>G	ENST00000323944.5	-	5	1001	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	STXBP6_ENST00000419632.2_Missense_Mutation_p.E184Q|STXBP6_ENST00000550887.1_Missense_Mutation_p.E184Q|STXBP6_ENST00000546511.1_Missense_Mutation_p.E184Q|STXBP6_ENST00000358326.2_Missense_Mutation_p.E184Q|STXBP6_ENST00000396700.1_Missense_Mutation_p.E184Q|STXBP6_ENST00000548724.1_Missense_Mutation_p.E184Q|STXBP6_ENST00000548369.1_Missense_Mutation_p.E82Q			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	184	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		GTCTTCTCCTCTGCTCGGCCT	0.572																																						uc001wpu.2		NaN																	0					0						c.(550-552)GAG>CAG		amisyn							182.0	155.0	164.0					14																	25288302		2203	4300	6503	SO:0001583	missense	29091				vesicle-mediated transport	cytoplasm|integral to membrane		g.chr14:25288302C>G	AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.550G>C	14.37:g.25288302C>G	ENSP00000324302:p.Glu184Gln					STXBP6_uc001wpv.2_Missense_Mutation_p.E184Q|STXBP6_uc001wpw.2_Missense_Mutation_p.E184Q|STXBP6_uc001wpx.1_RNA|STXBP6_uc001wpt.2_Missense_Mutation_p.E82Q	p.E184Q	NM_014178	NP_054897	Q8NFX7	STXB6_HUMAN		GBM - Glioblastoma multiforme(265;0.0296)	5	1265	-			184			v-SNARE coiled-coil homology.		D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Missense_Mutation	SNP	ENST00000323944.5	37	c.550G>C	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721690	0.68959	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000548369;ENST00000358326	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.35	5.35	0.76521	Synaptobrevin (2);	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.69823	2.125	0.58432	D	0.999995	D;D	0.89917	1.0;0.998	D;D	0.80764	0.969;0.994	T	0.66329	-0.5951	10	0.59425	D	0.04	-11.7777	16.5691	0.84606	0.0:1.0:0.0:0.0	.	184;82	Q8NFX7;Q8NFX7-3	STXB6_HUMAN;.	Q	184;184;184;184;184;184;82;184	ENSP00000379928:E184Q;ENSP00000447383:E184Q;ENSP00000324302:E184Q;ENSP00000397212:E184Q;ENSP00000449536:E184Q;ENSP00000449379:E184Q;ENSP00000447655:E82Q;ENSP00000351083:E184Q	ENSP00000324302:E184Q	E	-	1	0	STXBP6	24358142	1.000000	0.71417	0.925000	0.36789	0.447000	0.32167	7.786000	0.85741	2.516000	0.84829	0.460000	0.39030	GAG		0.572	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1				17	126	0	0	0	0.012319	0	17	126		
SCFD1	23256	broad.mit.edu	37	14	31177222	31177222	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:31177222G>C	ENST00000458591.2	+	19	1807	c.1580G>C	c.(1579-1581)gGa>gCa	p.G527A	SCFD1_ENST00000541123.1_Missense_Mutation_p.G342A|SCFD1_ENST00000544052.2_Missense_Mutation_p.G460A|SCFD1_ENST00000396629.2_Missense_Mutation_p.G435A|SCFD1_ENST00000421551.3_Missense_Mutation_p.G468A	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	527					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATGAATACAGGATCACAGTTT	0.358																																						uc001wqm.1		NaN																	0					0						c.(1579-1581)GGA>GCA		vesicle transport-related protein isoform a							191.0	173.0	180.0					14																	31177222		2203	4300	6503	SO:0001583	missense	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31177222G>C	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1580G>C	14.37:g.31177222G>C	ENSP00000390783:p.Gly527Ala					SCFD1_uc001wqn.1_Missense_Mutation_p.G460A|SCFD1_uc010tpg.1_Missense_Mutation_p.G468A|SCFD1_uc010tph.1_Missense_Mutation_p.G342A|SCFD1_uc010amf.1_Missense_Mutation_p.G342A|SCFD1_uc010tpi.1_Missense_Mutation_p.G435A|SCFD1_uc010amd.1_Intron|SCFD1_uc010ame.1_Missense_Mutation_p.G460A	p.G527A	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	19	1604	+	Hepatocellular(127;0.0877)		527					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	c.1580G>C	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368658	0.82463	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.85509	0.5713	M	0.74546	2.27	0.80722	D	1	B;D;D	0.71674	0.418;0.998;0.998	B;D;D	0.69824	0.206;0.966;0.966	D	0.85403	0.1132	10	0.44086	T	0.13	-27.629	17.687	0.88258	0.0:0.0:1.0:0.0	.	468;460;527	B7Z738;B7Z4U7;Q8WVM8	.;.;SCFD1_HUMAN	A	527;460;468;342;435	ENSP00000390783:G527A;ENSP00000443010:G460A;ENSP00000388078:G468A;ENSP00000443537:G342A;ENSP00000379870:G435A	ENSP00000309417:G535A	G	+	2	0	SCFD1	30246973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.961000	0.87903	2.470000	0.83445	0.655000	0.94253	GGA		0.358	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3		NM_182835		9	57	0	0	0	0.010729	0	9	57		
AKAP6	9472	broad.mit.edu	37	14	33292806	33292806	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:33292806G>C	ENST00000280979.4	+	13	5957	c.5787G>C	c.(5785-5787)gaG>gaC	p.E1929D	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1929					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGATTTCAGAGAGTGAGCATT	0.373																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NaN																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(5785-5787)GAG>GAC		A-kinase anchor protein 6							69.0	70.0	70.0					14																	33292806		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292806G>C	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5787G>C	14.37:g.33292806G>C	ENSP00000280979:p.Glu1929Asp						p.E1929D	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5957	+	Breast(36;0.0388)|Prostate(35;0.15)		1929					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5787G>C	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664636	0.29604	.	.	ENSG00000151320	ENST00000280979	T	0.55930	0.49	5.63	1.49	0.22878	.	0.059783	0.64402	N	0.000006	T	0.34687	0.0906	L	0.40543	1.245	0.44194	D	0.997013	B	0.09022	0.002	B	0.06405	0.002	T	0.18178	-1.0345	10	0.48119	T	0.1	-11.116	0.9642	0.01402	0.4445:0.1764:0.2191:0.16	.	1929	Q13023	AKAP6_HUMAN	D	1929	ENSP00000280979:E1929D	ENSP00000280979:E1929D	E	+	3	2	AKAP6	32362557	0.720000	0.27996	0.058000	0.19502	0.873000	0.50193	0.960000	0.29253	0.227000	0.20999	0.650000	0.86243	GAG		0.373	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2		NM_004274		6	28	0	0	0	0.001168	0	6	28		
FAM179B	23116	broad.mit.edu	37	14	45433339	45433339	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:45433339G>A	ENST00000361577.3	+	1	1929	c.1715G>A	c.(1714-1716)aGa>aAa	p.R572K	FAM179B_ENST00000382233.2_Missense_Mutation_p.R572K|FAM179B_ENST00000361462.2_Missense_Mutation_p.R572K|KLHL28_ENST00000396128.4_5'Flank|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	572										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GTGCAGGCCAGATTGGCTAGG	0.468																																						uc001wvv.2		NaN																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(1714-1716)AGA>AAA		hypothetical protein LOC23116							114.0	120.0	118.0					14																	45433339		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45433339G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1715G>A	14.37:g.45433339G>A	ENSP00000355045:p.Arg572Lys					FAM179B_uc001wvw.2_Missense_Mutation_p.R572K|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R572K|FAM179B_uc001wvu.2_Missense_Mutation_p.R572K	p.R572K	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			1	1924	+			572					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.1715G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373133	0.82573	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.04234	3.67;3.67;3.67	4.47	4.47	0.54385	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.23410	0.0566	M	0.80332	2.49	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;0.996;0.999;1.0	D;D;D;D	0.91635	0.999;0.987;0.993;0.999	T	0.01621	-1.1310	10	0.56958	D	0.05	-12.1681	16.9161	0.86152	0.0:0.0:1.0:0.0	.	572;572;572;572	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	K	572	ENSP00000355045:R572K;ENSP00000354917:R572K;ENSP00000371668:R572K	ENSP00000354917:R572K	R	+	2	0	FAM179B	44503089	1.000000	0.71417	0.771000	0.31576	0.986000	0.74619	9.228000	0.95250	2.311000	0.77944	0.561000	0.74099	AGA		0.468	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1		XM_113781		14	118	0	0	0	0.003163	0	14	118		
DNAAF2	55172	broad.mit.edu	37	14	50100987	50100987	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:50100987G>A	ENST00000298292.8	-	1	961	c.881C>T	c.(880-882)tCg>tTg	p.S294L	DNAAF2_ENST00000406043.3_Missense_Mutation_p.S294L	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	294					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						CTGCTCGGCCGAGCGCAACAG	0.657																																						uc001wws.3		NaN																	0					0						c.(880-882)TCG>TTG		kintoun isoform 1							20.0	23.0	22.0					14																	50100987		2114	4187	6301	SO:0001583	missense	55172	Kartagener_syndrome			axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50100987G>A	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.881C>T	14.37:g.50100987G>A	ENSP00000298292:p.Ser294Leu					SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.S294L	p.S294L	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN			1	962	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		294					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	c.881C>T	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953206	0.73902	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.27890	1.64;1.64	5.23	5.23	0.72850	.	.	.	.	.	T	0.60457	0.2270	M	0.84219	2.685	0.40461	D	0.980248	D;D	0.76494	0.999;0.999	P;D	0.79108	0.781;0.992	T	0.67654	-0.5615	9	0.87932	D	0	.	17.619	0.88075	0.0:0.0:1.0:0.0	.	294;294	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	L	294	ENSP00000298292:S294L;ENSP00000384862:S294L	ENSP00000298292:S294L	S	-	2	0	DNAAF2	49170737	1.000000	0.71417	0.945000	0.38365	0.769000	0.43574	4.490000	0.60319	2.471000	0.83476	0.449000	0.29647	TCG		0.657	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1				12	64	0	0	0	0.006122	0	12	64		
PYGL	5836	broad.mit.edu	37	14	51411041	51411041	+	Missense_Mutation	SNP	C	C	G	rs555137834	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:51411041C>G	ENST00000216392.7	-	1	413	c.81G>C	c.(79-81)gaG>gaC	p.E27D	PYGL_ENST00000532462.1_Missense_Mutation_p.E27D|PYGL_ENST00000544180.2_Missense_Mutation_p.E27D	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	27					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TCTTCTTCAGCTCTGCCACGT	0.667																																						uc001wyu.2		NaN																	0				skin(1)	1						c.(79-81)GAG>GAC		liver glycogen phosphorylase isoform 1	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						88.0	67.0	74.0					14																	51411041		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51411041C>G		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.81G>C	14.37:g.51411041C>G	ENSP00000216392:p.Glu27Asp					PYGL_uc010tqq.1_Missense_Mutation_p.E27D|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Missense_Mutation_p.E27D	p.E27D	NM_002863	NP_002854	P06737	PYGL_HUMAN			1	208	-	all_epithelial(31;0.00825)|Breast(41;0.148)		27					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.81G>C	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258134	0.59321	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.88046	-2.33;-2.33;-2.33	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	L	0.28014	0.82	0.80722	D	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.15052	0.012;0.0;0.001	T	0.73767	-0.3879	10	0.19147	T	0.46	-2.4103	16.0212	0.80493	0.0:1.0:0.0:0.0	.	27;49;27	F5H816;Q6P1L4;P06737	.;.;PYGL_HUMAN	D	27	ENSP00000431657:E27D;ENSP00000443787:E27D;ENSP00000216392:E27D	ENSP00000216392:E27D	E	-	3	2	PYGL	50480791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.656000	0.54467	2.263000	0.75096	0.561000	0.74099	GAG		0.667	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3		NM_002863		10	78	0	0	0	0.001368	0	10	78		
GPR137C	283554	broad.mit.edu	37	14	53020091	53020091	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:53020091G>A	ENST00000321662.6	+	1	226	c.226G>A	c.(226-228)Gag>Aag	p.E76K	TXNDC16_ENST00000554399.1_5'Flank|TXNDC16_ENST00000281741.4_5'Flank	NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	76						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					CCTGTACCGCGAGCGGCGGCT	0.677																																						uc001wzu.3		NaN																	0					0						c.(226-228)GAG>AAG		G protein-coupled receptor 137C							9.0	13.0	12.0					14																	53020091		2039	4150	6189	SO:0001583	missense	283554					integral to membrane		g.chr14:53020091G>A	BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.226G>A	14.37:g.53020091G>A	ENSP00000315106:p.Glu76Lys					TXNDC16_uc010tqu.1_5'Flank|TXNDC16_uc001wzs.2_5'Flank|TXNDC16_uc010aoe.2_5'Flank|GPR137C_uc001wzt.3_Missense_Mutation_p.E76K	p.E76K	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN			1	226	+	Breast(41;0.0716)		76			Cytoplasmic (Potential).		Q86SM2	Missense_Mutation	SNP	ENST00000321662.6	37	c.226G>A	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.15|11.15	1.553429|1.553429	0.27739|0.27739	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000321662|ENST00000542169	T|T	0.15139|0.46451	2.45|0.87	4.72|4.72	2.85|2.85	0.33270|0.33270	.|.	0.243486|.	0.40908|.	D|.	0.000999|.	T|T	0.35653|0.35653	0.0939|0.0939	L|L	0.36672|0.36672	1.1|1.1	0.35275|0.35275	D|D	0.780833|0.780833	B|.	0.17465|.	0.022|.	B|.	0.09377|.	0.004|.	T|T	0.37384|0.37384	-0.9708|-0.9708	10|6	0.72032|.	D|.	0.01|.	-23.3699|-23.3699	7.4831|7.4831	0.27417|0.27417	0.0887:0.3216:0.5897:0.0|0.0887:0.3216:0.5897:0.0	.|.	76|.	Q8N3F9|.	G137C_HUMAN|.	K|Q	76|29	ENSP00000315106:E76K|ENSP00000439165:R29Q	ENSP00000315106:E76K|.	E|R	+|+	1|2	0|0	GPR137C|GPR137C	52089841|52089841	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.042000|0.042000	0.13812|0.13812	2.991000|2.991000	0.49409|0.49409	0.405000|0.405000	0.25532|0.25532	-0.494000|-0.494000	0.04653|0.04653	GAG|CGA		0.677	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1		XM_290615		3	17	0	0	0	0.001168	0	3	17		
DLGAP5	9787	broad.mit.edu	37	14	55618639	55618639	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:55618639C>G	ENST00000247191.2	-	17	2358	c.2142G>C	c.(2140-2142)ttG>ttC	p.L714F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.L714F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	714					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AATCCACCTTCAAGTCTGTCT	0.303																																						uc001xbs.2		NaN																	0				ovary(1)|skin(1)	2						c.(2140-2142)TTG>TTC		discs large homolog 7 isoform a							65.0	64.0	64.0					14																	55618639		2203	4300	6503	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55618639C>G	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.2142G>C	14.37:g.55618639C>G	ENSP00000247191:p.Leu714Phe					DLGAP5_uc001xbt.2_Missense_Mutation_p.L714F	p.L714F	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			17	2359	-			714					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.2142G>C	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.700633	0.00725	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.31769	1.48;1.48	4.4	-7.2	0.01495	.	1.599520	0.03414	N	0.205222	T	0.11067	0.0270	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13415	-1.0510	10	0.27082	T	0.32	.	2.8601	0.05584	0.154:0.4607:0.1703:0.215	.	714;714	A8MTM6;Q15398	.;DLGP5_HUMAN	F	714	ENSP00000378815:L714F;ENSP00000247191:L714F	ENSP00000247191:L714F	L	-	3	2	DLGAP5	54688392	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.984000	0.03755	-1.088000	0.03077	-0.397000	0.06425	TTG		0.303	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2		NM_014750		5	39	0	0	0	0.00308	0	5	39		
JKAMP	51528	broad.mit.edu	37	14	59965517	59965517	+	Silent	SNP	G	G	A	rs369369896		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:59965517G>A	ENST00000261247.9	+	5	678	c.531G>A	c.(529-531)aaG>aaA	p.K177K	RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000554271.1_Silent_p.K191K|JKAMP_ENST00000356057.5_Silent_p.K185K|JKAMP_ENST00000425728.2_Silent_p.K171K	NM_001098625.1|NM_001284203.1|NM_016475.3	NP_001092095.1|NP_001271132.1|NP_057559.2	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	192					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TTCTGGTGAAGAAGATTGCAT	0.363																																						uc001xei.3		NaN																	0				breast(1)	1						c.(571-573)AAG>AAA		JNK1-associated membrane protein isoform 2		G	,	1,3687		0,1,1843	107.0	99.0	102.0		513,531	4.5	1.0	14		102	3,8173		0,3,4085	no	coding-synonymous,coding-synonymous	JKAMP	NM_001098625.1,NM_016475.3	,	0,4,5928	AA,AG,GG		0.0367,0.0271,0.0337	,	171/306,177/312	59965517	4,11860	1844	4088	5932	SO:0001819	synonymous_variant	51528				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	g.chr14:59965517G>A	AF212245	CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1	14q22.3	2014-02-14	2009-08-13	2009-08-13	ENSG00000050130	ENSG00000050130			20184	protein-coding gene	gene with protein product	"""Jun N-terminal kinase 1-associated membrane protein"""	611176	"""chromosome 14 open reading frame 100"""	C14orf100		16166642, 19269966	Standard	NM_001284202		Approved	HSPC213, JAMP, HSPC327, CDA06	uc001xef.4	Q9P055	OTTHUMG00000171054	ENST00000261247.9:c.531G>A	14.37:g.59965517G>A						JKAMP_uc001xef.3_Silent_p.K177K|JKAMP_uc001xeh.3_Silent_p.K171K|JKAMP_uc001xeg.3_Silent_p.K185K|JKAMP_uc010try.1_Silent_p.K114K|JKAMP_uc001xej.3_Silent_p.K114K	p.K191K	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN			5	1075	+			192			Cytoplasmic (Potential).		B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3	Silent	SNP	ENST00000261247.9	37	c.573G>A	CCDS45116.1																																																																																				0.363	JKAMP-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411430.1		NM_001098625		4	22	0	0	0	0.001168	0	4	22		
RDH11	51109	broad.mit.edu	37	14	68159246	68159246	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:68159246C>T	ENST00000381346.4	-	3	368	c.258G>A	c.(256-258)caG>caA	p.Q86Q	RP11-1012A1.4_ENST00000553306.1_5'Flank|RDH11_ENST00000428130.2_Silent_p.Q86Q|RDH11_ENST00000553384.1_Silent_p.Q73Q|RP11-1012A1.4_ENST00000554493.1_5'Flank	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	86					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CTGTCGTGGTCTGGATCTCTT	0.488																																						uc001xjv.3		NaN																	0				ovary(1)	1						c.(256-258)CAG>CAA		retinol dehydrogenase 11	Vitamin A(DB00162)						215.0	203.0	207.0					14																	68159246		2203	4300	6503	SO:0001819	synonymous_variant	51109				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr14:68159246C>T	AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	17964	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 1"", ""androgen-regulated short-chain dehydrogenase/reductase 1"""	607849	"""retinol dehydrogenase 11 (all-trans and 9-cis)"""			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.258G>A	14.37:g.68159246C>T						RDH11_uc001xjw.3_Silent_p.Q73Q|RDH11_uc001xjx.3_Silent_p.Q86Q	p.Q86Q	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN		all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	3	348	-			86			Cytoplasmic (Potential).		A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Silent	SNP	ENST00000381346.4	37	c.258G>A	CCDS32104.1																																																																																				0.488	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3				36	214	0	0	0	0.00361	0	36	214		
HEATR4	399671	broad.mit.edu	37	14	73959790	73959790	+	Missense_Mutation	SNP	C	C	T	rs368459350		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:73959790C>T	ENST00000553558.1	-	17	3145	c.2824G>A	c.(2824-2826)Gac>Aac	p.D942N	HEATR4_ENST00000334988.2_Missense_Mutation_p.D942N|HEATR4_ENST00000560393.1_Missense_Mutation_p.D895N|C14orf169_ENST00000531973.1_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	942										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GCTTCAGTGTCACAAACCTCG	0.398																																						uc010tua.1		NaN																	0				ovary(1)	1						c.(2683-2685)GAC>AAC		HEAT repeat containing 4		C	,ASN/ASP,ASN/ASP	0,4406		0,0,2203	128.0	124.0	126.0		,2824,2824	3.7	0.8	14		126	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,missense,missense	C14orf169,HEATR4	NM_024644.2,NM_203309.2,NM_001220484.1	,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign,benign	,942/1027,942/1027	73959790	1,13005	2203	4300	6503	SO:0001583	missense	399671							g.chr14:73959790C>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2824G>A	14.37:g.73959790C>T	ENSP00000450444:p.Asp942Asn					C14orf169_uc001xok.1_3'UTR	p.D895N	NM_203309	NP_976054				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	17	3093	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.2683G>A	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088234	0.36855	0.0	1.16E-4	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.24723	1.84	5.51	3.7	0.42460	.	0.288829	0.24710	N	0.036231	T	0.15046	0.0363	N	0.19112	0.55	0.21220	N	0.999758	B	0.28512	0.214	B	0.24269	0.052	T	0.16012	-1.0417	10	0.54805	T	0.06	-9.1355	7.9534	0.30027	0.0:0.8152:0.0:0.1847	.	942	Q86WZ0	HEAT4_HUMAN	N	942;895	ENSP00000450444:D942N	ENSP00000335447:D895N	D	-	1	0	HEATR4	73029543	0.647000	0.27304	0.791000	0.31998	0.355000	0.29361	1.800000	0.38833	0.708000	0.31955	0.655000	0.94253	GAC		0.398	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2		NM_203309		7	82	0	0	0	0.008291	0	7	82		
HEATR4	399671	broad.mit.edu	37	14	73959826	73959826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:73959826C>T	ENST00000553558.1	-	17	3109	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	HEATR4_ENST00000334988.2_Missense_Mutation_p.E930K|HEATR4_ENST00000560393.1_Missense_Mutation_p.E883K|C14orf169_ENST00000531973.1_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	930										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGAACCATCTCATCTAGGTAC	0.433																																						uc010tua.1		NaN																	0				ovary(1)	1						c.(2647-2649)GAG>AAG		HEAT repeat containing 4							108.0	104.0	105.0					14																	73959826		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73959826C>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2788G>A	14.37:g.73959826C>T	ENSP00000450444:p.Glu930Lys					C14orf169_uc001xok.1_3'UTR	p.E883K	NM_203309	NP_976054				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	17	3057	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.2647G>A	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064291	0.36373	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.25414	1.8	5.75	4.85	0.62838	.	0.637627	0.13723	N	0.367271	T	0.17066	0.0410	N	0.19112	0.55	0.23720	N	0.997027	B	0.29909	0.261	B	0.20184	0.028	T	0.15235	-1.0444	10	0.72032	D	0.01	-8.3384	11.1784	0.48614	0.0:0.9141:0.0:0.0859	.	930	Q86WZ0	HEAT4_HUMAN	K	930;883	ENSP00000450444:E930K	ENSP00000335447:E883K	E	-	1	0	HEATR4	73029579	0.068000	0.21057	0.762000	0.31397	0.966000	0.64601	0.192000	0.17096	1.405000	0.46838	0.655000	0.94253	GAG		0.433	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2		NM_203309		4	52	0	0	0	0.000602	0	4	52		
LTBP2	4053	broad.mit.edu	37	14	75078187	75078187	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:75078187G>A	ENST00000261978.4	-	1	847	c.461C>T	c.(460-462)gCg>gTg	p.A154V	LTBP2_ENST00000556690.1_Missense_Mutation_p.A154V|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	154					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGTTGGGGGCGCAGCCCCAGA	0.726																																						uc001xqa.2		NaN																	0				liver(1)|skin(1)	2						c.(460-462)GCG>GTG		latent transforming growth factor beta binding							17.0	24.0	22.0					14																	75078187		1772	3659	5431	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75078187G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.461C>T	14.37:g.75078187G>A	ENSP00000261978:p.Ala154Val						p.A154V	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	1	848	-			154					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.461C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749473	0.49257	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.79141	-1.23;-1.24	3.09	3.09	0.35607	.	0.239238	0.21628	N	0.071521	T	0.64125	0.2570	L	0.43152	1.355	0.28001	N	0.935282	B	0.33748	0.423	B	0.20955	0.032	T	0.58370	-0.7648	10	0.34782	T	0.22	.	9.8091	0.40812	0.0:0.0:1.0:0.0	.	154	Q14767	LTBP2_HUMAN	V	154	ENSP00000261978:A154V;ENSP00000451477:A154V	ENSP00000261978:A154V	A	-	2	0	LTBP2	74147940	0.986000	0.35501	0.997000	0.53966	0.823000	0.46562	1.980000	0.40618	1.739000	0.51704	0.462000	0.41574	GCG		0.726	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1		NM_000428		6	59	0	0	0	0.001984	0	6	59		
TTLL5	23093	broad.mit.edu	37	14	76211452	76211452	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:76211452C>G	ENST00000298832.9	+	16	1501	c.1296C>G	c.(1294-1296)ctC>ctG	p.L432L	TTLL5_ENST00000554510.1_5'Flank|TTLL5_ENST00000557636.1_Silent_p.L446L|TTLL5_ENST00000556893.1_5'Flank|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	432					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCCGTCCACTCTCTGCCAGTG	0.458																																						uc001xrx.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1294-1296)CTC>CTG		tubulin tyrosine ligase-like family, member 5							87.0	90.0	89.0					14																	76211452		2203	4300	6503	SO:0001819	synonymous_variant	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76211452C>G	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1296C>G	14.37:g.76211452C>G						TTLL5_uc010ask.1_Silent_p.L446L|TTLL5_uc001xrz.2_5'UTR|TTLL5_uc001xry.1_RNA	p.L432L	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	16	1501	+			432					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	c.1296C>G	CCDS32124.1																																																																																				0.458	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1		NM_015072		7	20	0	0	0	0.00308	0	7	20		
NOXRED1	122945	broad.mit.edu	37	14	77872309	77872309	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:77872309C>G	ENST00000380835.2	-	5	1018	c.852G>C	c.(850-852)ttG>ttC	p.L284F		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	284					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTGTTAATTGCAACTTTGGGC	0.473																																						uc001xtr.2		NaN																	0					0						c.(850-852)TTG>TTC		hypothetical protein LOC122945 isoform 1							105.0	94.0	97.0					14																	77872309		1568	3582	5150	SO:0001583	missense	122945				proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	g.chr14:77872309C>G	AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.852G>C	14.37:g.77872309C>G	ENSP00000370215:p.Leu284Phe						p.L284F	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)	5	999	-			284					B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	37	c.852G>C	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.648136	0.00785	.	.	ENSG00000165555	ENST00000380835	T	0.55234	0.53	5.66	0.636	0.17729	.	0.193181	0.44285	N	0.000475	T	0.12518	0.0304	N	0.00436	-1.5	0.20926	N	0.999829	B	0.02656	0.0	B	0.04013	0.001	T	0.36163	-0.9759	10	0.02654	T	1	-9.7959	5.1625	0.15068	0.3802:0.1834:0.4364:0.0	.	284	Q6NXP6	NXRD1_HUMAN	F	284	ENSP00000370215:L284F	ENSP00000370215:L284F	L	-	3	2	C14orf148	76942062	0.003000	0.15002	0.005000	0.12908	0.774000	0.43823	0.013000	0.13310	-0.101000	0.12219	-0.539000	0.04255	TTG		0.473	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1		NM_138791		3	27	0	0	0	0.000602	0	3	27		
NDUFB1	4707	broad.mit.edu	37	14	92588065	92588065	+	5'UTR	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:92588065C>T	ENST00000553514.1	-	0	3				NDUFB1_ENST00000555441.1_5'Flank|NDUFB1_ENST00000329559.3_Silent_p.P19P|NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000556555.1_5'Flank|CPSF2_ENST00000298875.4_5'Flank			O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)		GCTGCGACCTCGGGACCTGCC	0.612																																						uc001yaf.2		NaN																	0					0						c.(55-57)CCG>CCA		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						41.0	47.0	45.0					14																	92588065		2202	4294	6496	SO:0001623	5_prime_UTR_variant	4707				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr14:92588065C>T	BC104672	CCDS9901.1	14q31.3	2011-07-04	2002-08-29		ENSG00000183648	ENSG00000183648		"""Mitochondrial respiratory chain complex / Complex I"""	7695	protein-coding gene	gene with protein product	"""complex I MNLL subunit"""	603837	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL)"""			9763677	Standard	NM_004545		Approved	MNLL, CI-MNLL	uc001yaf.3	O75438		ENST00000553514.1:c.-203G>A	14.37:g.92588065C>T						NDUFB1_uc001yag.1_RNA|CPSF2_uc001yah.1_5'Flank	p.P19P	NM_004545	NP_004536	O75438	NDUB1_HUMAN		COAD - Colon adenocarcinoma(157;0.205)	1	89	-		all_cancers(154;0.0766)	Error:Variant_position_missing_in_O75438_after_alignment					A0AV68	Silent	SNP	ENST00000553514.1	37	c.57G>A																																																																																					0.612	NDUFB1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412116.2		NM_004545		13	94	0	0	0	0.004007	0	13	94		
BTBD7	55727	broad.mit.edu	37	14	93730309	93730309	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:93730309G>A	ENST00000334746.5	-	4	1500	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L	BTBD7_ENST00000554565.1_Missense_Mutation_p.S47L|BTBD7_ENST00000393170.2_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	398					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GGTATCTAATGAGATGCTCTC	0.388																																						uc001ybo.2		NaN																	0				pancreas(1)	1						c.(1192-1194)TCA>TTA		BTB (POZ) domain containing 7 isoform 1							101.0	93.0	96.0					14																	93730309		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93730309G>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1193C>T	14.37:g.93730309G>A	ENSP00000335615:p.Ser398Leu					BTBD7_uc010aur.2_Intron|BTBD7_uc010two.1_Intron|BTBD7_uc001ybp.2_Missense_Mutation_p.S47L|BTBD7_uc001ybq.3_Missense_Mutation_p.S313L	p.S398L	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	4	1519	-		all_cancers(154;0.08)	398					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.1193C>T	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386250	0.82902	.	.	ENSG00000011114	ENST00000334746;ENST00000554565	T;T	0.54479	0.99;0.57	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.981	D;D	0.83275	0.996;0.966	T	0.69038	-0.5251	10	0.72032	D	0.01	.	18.2807	0.90097	0.0:0.0:1.0:0.0	.	47;398	Q9P203-5;Q9P203	.;BTBD7_HUMAN	L	398;47	ENSP00000335615:S398L;ENSP00000451010:S47L	ENSP00000335615:S398L	S	-	2	0	BTBD7	92800062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.876000	0.87215	2.338000	0.79540	0.558000	0.71614	TCA		0.388	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1		NM_001002860		7	58	0	0	0	0.006214	0	7	58		
UNC79	57578	broad.mit.edu	37	14	94088398	94088398	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:94088398C>T	ENST00000393151.2	+	30	4819	c.4819C>T	c.(4819-4821)Ctg>Ttg	p.L1607L	UNC79_ENST00000553484.1_Silent_p.L1629L|UNC79_ENST00000555664.1_Silent_p.L1607L|UNC79_ENST00000256339.4_Silent_p.L1430L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1607					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGATTTAGATCTGATAGATCT	0.473																																						uc001ybv.1		NaN																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(4354-4356)CTG>TTG		hypothetical protein LOC57578							70.0	74.0	73.0					14																	94088398		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94088398C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4819C>T	14.37:g.94088398C>T						KIAA1409_uc001ybs.1_Silent_p.L1430L	p.L1452L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	4437	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1607					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.4354C>T																																																																																					0.473	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1		XM_028395		12	72	0	0	0	0.00245	0	12	72		
UNC79	57578	broad.mit.edu	37	14	94128992	94128992	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:94128992C>T	ENST00000393151.2	+	41	6685	c.6685C>T	c.(6685-6687)Cag>Tag	p.Q2229*	UNC79_ENST00000553484.1_Nonsense_Mutation_p.Q2251*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.Q2190*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.Q2052*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2229					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTTGTAATTCAGAATGCCGT	0.418																																						uc001ybv.1		NaN																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(6220-6222)CAG>TAG		hypothetical protein LOC57578							131.0	114.0	120.0					14																	94128992		2203	4300	6503	SO:0001587	stop_gained	57578					integral to membrane		g.chr14:94128992C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6685C>T	14.37:g.94128992C>T	ENSP00000376858:p.Gln2229*					KIAA1409_uc001ybs.1_Nonsense_Mutation_p.Q2052*	p.Q2074*	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	39	6303	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2229			Helical; (Potential).		B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	ENST00000393151.2	37	c.6220C>T		.	.	.	.	.	.	.	.	.	.	C	47	13.880273	0.99768	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.7475	19.8193	0.96586	0.0:1.0:0.0:0.0	.	.	.	.	X	2052;2190;2251;2229;2251	.	ENSP00000256339:Q2052X	Q	+	1	0	KIAA1409	93198745	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.690000	0.91761	0.555000	0.69702	CAG		0.418	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1		XM_028395		5	29	0	0	0	0.001168	0	5	29		
HSP90AA1	3320	broad.mit.edu	37	14	102552649	102552649	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:102552649G>A	ENST00000216281.8	-	2	272	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	HSP90AA1_ENST00000441629.2_5'UTR|HSP90AA1_ENST00000334701.7_Nonsense_Mutation_p.Q145*	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	23					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	ATTTCTGCCTGAAAGGCGAAC	0.468																																						uc001yku.3		NaN																	0				ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(67-69)CAG>TAG		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						98.0	97.0	97.0					14																	102552649		2203	4300	6503	SO:0001587	stop_gained	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102552649G>A	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.67C>T	14.37:g.102552649G>A	ENSP00000216281:p.Gln23*					HSP90AA1_uc001ykv.3_Nonsense_Mutation_p.Q145*|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Nonsense_Mutation_p.Q12*	p.Q23*	NM_005348	NP_005339	P07900	HS90A_HUMAN			2	257	-			23					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Nonsense_Mutation	SNP	ENST00000216281.8	37	c.67C>T	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156853	0.94686	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000553585	.	.	.	3.79	3.79	0.43588	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.0097	0.80391	0.0:0.0:1.0:0.0	.	.	.	.	X	23;145;23	.	ENSP00000216281:Q23X	Q	-	1	0	HSP90AA1	101622402	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.493000	0.97960	1.840000	0.53500	0.573000	0.79308	CAG		0.468	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2		NM_005348		10	91	0	0	0	0.00245	0	10	91		
KLC1	3831	broad.mit.edu	37	14	104121117	104121117	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:104121117C>T	ENST00000348520.6	+	2	535	c.216C>T	c.(214-216)atC>atT	p.I72I	KLC1_ENST00000389744.4_Silent_p.I72I|KLC1_ENST00000554280.1_Silent_p.I72I|KLC1_ENST00000380038.3_Silent_p.I72I|KLC1_ENST00000555836.1_Silent_p.I72I|KLC1_ENST00000347839.6_Silent_p.I72I|KLC1_ENST00000246489.7_Silent_p.I72I|KLC1_ENST00000452929.2_Silent_p.I72I|KLC1_ENST00000553286.1_Silent_p.I72I|KLC1_ENST00000557575.1_Silent_p.I72I|KLC1_ENST00000557450.1_Silent_p.I72I|KLC1_ENST00000445352.4_Silent_p.I72I|KLC1_ENST00000334553.6_Silent_p.I72I|RP11-73M18.2_ENST00000472726.2_Silent_p.I244I	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	72					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				CAAACATGATCCGGAAGTCAC	0.423																																						uc001yno.2		NaN																	0					0						c.(214-216)ATC>ATT		kinesin light chain 1 isoform 2							92.0	89.0	90.0					14																	104121117		2203	4300	6503	SO:0001819	synonymous_variant	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104121117C>T	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.216C>T	14.37:g.104121117C>T						KLC1_uc010tyd.1_Silent_p.I231I|KLC1_uc010tye.1_Silent_p.I68I|KLC1_uc001ynm.1_Silent_p.I72I|KLC1_uc001ynn.1_Silent_p.I68I|KLC1_uc010tyf.1_Silent_p.I72I	p.I72I	NM_182923	NP_891553	Q07866	KLC1_HUMAN			2	524	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	72					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Silent	SNP	ENST00000348520.6	37	c.216C>T	CCDS41996.1																																																																																				0.423	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2		NM_005552		9	61	0	0	0	0.008291	0	9	61		
CEP170B	283638	broad.mit.edu	37	14	105354098	105354098	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:105354098G>A	ENST00000414716.3	+	12	3750	c.3522G>A	c.(3520-3522)cgG>cgA	p.R1174R	CEP170B_ENST00000556508.1_Silent_p.R1104R|CEP170B_ENST00000453495.1_Silent_p.R1175R|CEP170B_ENST00000418279.1_Silent_p.R1104R	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1174						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CCATGCCCCGGAAGCGGGCCG	0.692																																						uc010axb.2		NaN																	0				breast(1)	1						c.(3520-3522)CGG>CGA		hypothetical protein LOC283638 isoform 1							6.0	10.0	9.0					14																	105354098		1922	4084	6006	SO:0001819	synonymous_variant	283638					cytoplasm|microtubule		g.chr14:105354098G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3522G>A	14.37:g.105354098G>A						INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.R1104R|KIAA0284_uc001yps.2_Silent_p.R1080R|KIAA0284_uc001ypt.2_5'Flank	p.R1174R	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	12	3746	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1174					Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.3522G>A	CCDS45175.1																																																																																				0.692	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2		NM_001112726		5	12	0	0	0	0.001168	0	5	12		
AHNAK2	113146	broad.mit.edu	37	14	105405994	105405994	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:105405994G>A	ENST00000333244.5	-	7	15913	c.15794C>T	c.(15793-15795)tCc>tTc	p.S5265F	AHNAK2_ENST00000557457.1_Missense_Mutation_p.S263F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5265						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AATATCTGTGGATGATTTGCT	0.512																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(15793-15795)TCC>TTC		AHNAK nucleoprotein 2							140.0	148.0	145.0					14																	105405994		2055	4203	6258	SO:0001583	missense	113146					nucleus		g.chr14:105405994G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15794C>T	14.37:g.105405994G>A	ENSP00000353114:p.Ser5265Phe					AHNAK2_uc001ypx.2_Missense_Mutation_p.S5165F	p.S5265F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	15914	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5265					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.15794C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	12.62	1.993457	0.35131	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.02974	4.09;5.31	4.84	-0.407	0.12385	.	0.646187	0.12546	N	0.459447	T	0.01454	0.0047	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46400	-0.9194	10	0.56958	D	0.05	.	1.3435	0.02159	0.1322:0.1811:0.3329:0.3539	.	5265	Q8IVF2	AHNK2_HUMAN	F	263;5265	ENSP00000450998:S263F;ENSP00000353114:S5265F	ENSP00000353114:S5265F	S	-	2	0	AHNAK2	104477039	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-0.246000	0.09611	-0.224000	0.12420	TCC		0.512	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		18	114	0	0	0	0.008871	0	18	114		
MKRN3	7681	broad.mit.edu	37	15	23811991	23811991	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:23811991G>C	ENST00000314520.3	+	1	1538	c.1062G>C	c.(1060-1062)gaG>gaC	p.E354D	MKRN3_ENST00000564592.1_Missense_Mutation_p.E114D|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	354					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GACAGTTTGAGAACAGGATCG	0.507																																						uc001ywh.3		NaN																	0				lung(6)|large_intestine(2)|ovary(2)	10						c.(1060-1062)GAG>GAC		makorin ring finger protein 3							107.0	100.0	102.0					15																	23811991		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811991G>C	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1062G>C	15.37:g.23811991G>C	ENSP00000313881:p.Glu354Asp					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.E354D	p.E354D	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1538	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	354			RING-type.			Missense_Mutation	SNP	ENST00000314520.3	37	c.1062G>C	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	3.881	-0.025978	0.07589	.	.	ENSG00000179455	ENST00000314520	T	0.66280	-0.2	4.07	-4.1	0.03940	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.233664	0.42053	N	0.000780	T	0.33556	0.0867	N	0.21282	0.65	0.34352	D	0.689993	B	0.15141	0.012	B	0.14578	0.011	T	0.01884	-1.1254	10	0.30078	T	0.28	.	0.6578	0.00837	0.2803:0.1255:0.321:0.2733	.	354	Q13064	MKRN3_HUMAN	D	354	ENSP00000313881:E354D	ENSP00000313881:E354D	E	+	3	2	MKRN3	21363084	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	1.146000	0.31589	-0.730000	0.04869	-1.330000	0.01273	GAG		0.507	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1		NM_005664		15	144	0	0	0	0.003163	0	15	144		
INO80	54617	broad.mit.edu	37	15	41362724	41362724	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:41362724C>T	ENST00000361937.3	-	13	2051	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	INO80_ENST00000401393.3_Missense_Mutation_p.D543N			Q9ULG1	INO80_HUMAN	INO80 complex subunit	543	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCCATTTCATCAGCAAGAATG	0.408																																						uc001zni.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1627-1629)GAT>AAT		INO80 complex homolog 1							143.0	121.0	128.0					15																	41362724		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41362724C>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1627G>A	15.37:g.41362724C>T	ENSP00000355205:p.Asp543Asn					INO80_uc010ucu.1_RNA	p.D543N	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			13	1840	-			543			ATP (By similarity).|Helicase ATP-binding.|Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.1627G>A	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603375	0.96614	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.96716	-4.1;-4.1	5.32	5.32	0.75619	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99029	0.9668	H	0.98426	4.23	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.99094	1.0841	10	0.87932	D	0	.	19.1997	0.93707	0.0:1.0:0.0:0.0	.	543	Q9ULG1	INO80_HUMAN	N	543	ENSP00000355205:D543N;ENSP00000384686:D543N	ENSP00000355205:D543N	D	-	1	0	INO80	39150016	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.636000	0.83301	2.753000	0.94483	0.655000	0.94253	GAT		0.408	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553		21	61	0	0	0	0.005443	0	21	61		
OIP5	11339	broad.mit.edu	37	15	41624585	41624585	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:41624585C>T	ENST00000220514.3	-	1	234	c.175G>A	c.(175-177)Gag>Aag	p.E59K	NUSAP1_ENST00000260359.6_5'Flank|NUSAP1_ENST00000414849.2_5'Flank|NUSAP1_ENST00000560747.1_5'Flank|NUSAP1_ENST00000450318.1_5'Flank|NUSAP1_ENST00000560177.1_5'Flank|NUSAP1_ENST00000450592.2_5'Flank|NUSAP1_ENST00000559596.1_5'Flank	NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	59					cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCGGCTGGCTCCTCAGCCCCC	0.672																																						uc001znp.2		NaN																	0					0						c.(175-177)GAG>AAG		Opa interacting protein 5																																				SO:0001583	missense	11339				cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding	g.chr15:41624585C>T	AF025441	CCDS10074.1	15q14	2011-02-23			ENSG00000104147	ENSG00000104147			20300	protein-coding gene	gene with protein product	"""MIS18 kinetochore protein homolog B (S. pombe)"", ""cancer/testis antigen 86"""	606020				9466265, 17199038	Standard	NM_007280		Approved	MIS18B, hMIS18beta, CT86	uc001znp.3	O43482	OTTHUMG00000130251	ENST00000220514.3:c.175G>A	15.37:g.41624585C>T	ENSP00000220514:p.Glu59Lys					NUSAP1_uc001znq.3_5'Flank|NUSAP1_uc001znr.3_5'Flank|NUSAP1_uc001zns.3_5'Flank|NUSAP1_uc010bce.2_5'Flank|NUSAP1_uc001znt.3_5'Flank|NUSAP1_uc001znv.3_5'Flank|NUSAP1_uc001znu.3_5'Flank|NUSAP1_uc010ucw.1_5'Flank	p.E59K	NM_007280	NP_009211	O43482	MS18B_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)	1	235	-		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)	59					Q96BX7	Missense_Mutation	SNP	ENST00000220514.3	37	c.175G>A	CCDS10074.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096346	0.36952	.	.	ENSG00000104147	ENST00000220514	.	.	.	5.78	2.86	0.33363	.	0.859789	0.10216	N	0.701579	T	0.23649	0.0572	N	0.13043	0.29	0.09310	N	1	B	0.12630	0.006	B	0.16289	0.015	T	0.29549	-1.0008	9	0.16896	T	0.51	-8.3727	7.0983	0.25321	0.0:0.7058:0.1408:0.1533	.	59	O43482	MS18B_HUMAN	K	59	.	ENSP00000220514:E59K	E	-	1	0	OIP5	39411877	0.000000	0.05858	0.405000	0.26409	0.053000	0.15095	0.087000	0.14958	0.364000	0.24374	0.655000	0.94253	GAG		0.672	OIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252576.2		NM_007280		21	48	0	0	0	0.00632	0	21	48		
MGA	23269	broad.mit.edu	37	15	42058963	42058963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:42058963G>A	ENST00000570161.1	+	23	8683	c.8683G>A	c.(8683-8685)Gac>Aac	p.D2895N	MGA_ENST00000219905.7_Missense_Mutation_p.D2895N|MGA_ENST00000389936.4_Missense_Mutation_p.D2856N|MGA_ENST00000545763.1_Missense_Mutation_p.D2686N|MGA_ENST00000566586.1_Missense_Mutation_p.D2686N			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGGGAGAGTGACTCTATCAG	0.463																																						uc010ucy.1		NaN																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(8683-8685)GAC>AAC		MAX-interacting protein isoform 1							82.0	80.0	81.0					15																	42058963		1883	4121	6004	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42058963G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8683G>A	15.37:g.42058963G>A	ENSP00000457035:p.Asp2895Asn					MGA_uc010ucz.1_Missense_Mutation_p.D2686N	p.D2895N	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	24	8864	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2856					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.8683G>A	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953839	0.53293	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83335	-1.71;-1.71;-1.71	5.65	5.65	0.86999	.	0.300521	0.25674	N	0.029051	T	0.72518	0.3470	N	0.14661	0.345	0.30456	N	0.774744	P;P	0.38504	0.634;0.501	B;B	0.33620	0.167;0.081	T	0.73920	-0.3830	10	0.51188	T	0.08	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	2686;2895	F5H7K2;E7ENI0	.;.	N	2895;2856;2686	ENSP00000219905:D2895N;ENSP00000374586:D2856N;ENSP00000442467:D2686N	ENSP00000219905:D2895N	D	+	1	0	MGA	39846255	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	5.249000	0.65427	2.941000	0.99782	0.655000	0.94253	GAC		0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1		19	59	0	0	0	0.00333	0	19	59		
CAPN3	825	broad.mit.edu	37	15	42691775	42691775	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:42691775C>T	ENST00000397163.3	+	10	1498	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	CAPN3_ENST00000357568.3_Nonsense_Mutation_p.Q427*|CAPN3_ENST00000349748.3_Nonsense_Mutation_p.Q379*|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Nonsense_Mutation_p.Q340*|CAPN3_ENST00000397200.4_5'Flank|CAPN3_ENST00000318023.7_Nonsense_Mutation_p.Q427*	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	427	Domain III.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGACAAGCTTCAGACCTGGAC	0.562																																						uc001zpn.1		NaN																	0				central_nervous_system(1)	1						c.(1279-1281)CAG>TAG		calpain 3 isoform a							62.0	57.0	59.0					15																	42691775		2203	4299	6502	SO:0001587	stop_gained	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42691775C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1279C>T	15.37:g.42691775C>T	ENSP00000380349:p.Gln427*					CAPN3_uc001zpk.1_Nonsense_Mutation_p.Q200*|CAPN3_uc001zpl.1_Nonsense_Mutation_p.Q340*|CAPN3_uc010udf.1_Nonsense_Mutation_p.Q340*|CAPN3_uc010udg.1_Nonsense_Mutation_p.Q292*|CAPN3_uc001zpo.1_Nonsense_Mutation_p.Q427*|CAPN3_uc001zpp.1_Nonsense_Mutation_p.Q379*|CAPN3_uc001zpq.1_5'Flank	p.Q427*	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	10	1585	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	427			Domain III.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Nonsense_Mutation	SNP	ENST00000397163.3	37	c.1279C>T	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	38	6.964952	0.97967	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	.	.	.	5.37	5.37	0.77165	.	0.218979	0.39146	U	0.001447	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3137	0.94202	0.0:1.0:0.0:0.0	.	.	.	.	X	340;427;427;379;427	.	ENSP00000326281:Q427X	Q	+	1	0	CAPN3	40479067	0.992000	0.36948	0.997000	0.53966	0.995000	0.86356	3.017000	0.49615	2.788000	0.95919	0.650000	0.86243	CAG		0.562	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1				6	27	0	0	0	0.001168	0	6	27		
LEO1	123169	broad.mit.edu	37	15	52258074	52258074	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:52258074G>A	ENST00000299601.5	-	2	746	c.686C>T	c.(685-687)tCt>tTt	p.S229F	LEO1_ENST00000315141.5_Missense_Mutation_p.S229F	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	229	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TTCATCATCAGAATTCTGTTT	0.423																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	uc002abo.2		NaN																	0					0						c.(685-687)TCT>TTT		Leo1, Paf1/RNA polymerase II complex component,							262.0	262.0	262.0					15																	52258074		2195	4293	6488	SO:0001583	missense	123169				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr15:52258074G>A	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.686C>T	15.37:g.52258074G>A	ENSP00000299601:p.Ser229Phe					LEO1_uc010bfd.2_Missense_Mutation_p.S229F	p.S229F	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)	2	702	-			229			Asp-rich.		Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	c.686C>T	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.719746	0.48728	.	.	ENSG00000166477	ENST00000299601;ENST00000315141	.	.	.	4.54	3.61	0.41365	.	0.344540	0.32161	N	0.006495	T	0.58409	0.2120	L	0.51422	1.61	0.80722	D	1	P;P	0.50943	0.688;0.94	B;P	0.48030	0.163;0.564	T	0.64007	-0.6508	9	0.62326	D	0.03	.	14.2543	0.66040	0.0:0.0:0.8497:0.1503	.	229;229	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	F	229	.	ENSP00000299601:S229F	S	-	2	0	LEO1	50045366	1.000000	0.71417	0.876000	0.34364	0.972000	0.66771	4.455000	0.60075	1.239000	0.43787	-0.181000	0.13052	TCT		0.423	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2		NM_138792		56	131	0	0	0	0.00361	0	56	131		
RNF111	54778	broad.mit.edu	37	15	59358969	59358969	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:59358969C>G	ENST00000557998.1	+	6	1660	c.1373C>G	c.(1372-1374)tCa>tGa	p.S458*	RNF111_ENST00000561186.1_Nonsense_Mutation_p.S458*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.S458*|RNF111_ENST00000348370.4_Nonsense_Mutation_p.S458*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.S458*	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	458	Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CAAGATGACTCAAGGAGAACT	0.398																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2		NaN																	0				ovary(2)	2						c.(1372-1374)TCA>TGA		ring finger protein 111							89.0	80.0	83.0					15																	59358969		2192	4291	6483	SO:0001587	stop_gained	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59358969C>G	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1373C>G	15.37:g.59358969C>G	ENSP00000452732:p.Ser458*					RNF111_uc002afs.2_Nonsense_Mutation_p.S458*|RNF111_uc002aft.2_Nonsense_Mutation_p.S458*|RNF111_uc002afu.2_Nonsense_Mutation_p.S458*|RNF111_uc002afw.2_Nonsense_Mutation_p.S458*|RNF111_uc002afx.2_5'UTR	p.S458*	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	6	1652	+			458			Ser-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Nonsense_Mutation	SNP	ENST00000557998.1	37	c.1373C>G	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	40	8.293526	0.98747	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.82	2.57	0.30868	.	0.975301	0.08467	N	0.941542	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.5907	9.2509	0.37554	0.0:0.6431:0.0:0.3569	.	.	.	.	X	458	.	ENSP00000288199:S458X	S	+	2	0	RNF111	57146261	0.000000	0.05858	0.981000	0.43875	0.995000	0.86356	0.286000	0.18902	0.794000	0.33899	0.557000	0.71058	TCA		0.398	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1		NM_017610		23	38	0	0	0	0.007291	0	23	38		
PDCD7	10081	broad.mit.edu	37	15	65426045	65426045	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:65426045G>T	ENST00000204549.4	-	1	129	c.75C>A	c.(73-75)ttC>ttA	p.F25L		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	25	Pro-rich.				apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GCGGACAGCCGAAAGGAGCAG	0.726																																						uc002aol.2		NaN																	0					0						c.(73-75)TTC>TTA		programmed cell death 7							2.0	3.0	3.0					15																	65426045		1641	3563	5204	SO:0001583	missense	10081				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex		g.chr15:65426045G>T	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.75C>A	15.37:g.65426045G>T	ENSP00000204549:p.Phe25Leu						p.F25L	NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN			1	130	-			25			Pro-rich.		Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	37	c.75C>A	CCDS10201.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.237498	0.22711	.	.	ENSG00000090470	ENST00000204549	.	.	.	4.39	2.48	0.30137	.	0.159302	0.41500	D	0.000875	T	0.20333	0.0489	N	0.14661	0.345	0.26601	N	0.973011	B	0.02656	0.0	B	0.04013	0.001	T	0.21827	-1.0234	9	0.11794	T	0.64	-1.8798	7.2048	0.25901	0.0934:0.0:0.7375:0.1691	.	25	Q8N8D1	PDCD7_HUMAN	L	25	.	ENSP00000204549:F25L	F	-	3	2	PDCD7	63213098	0.995000	0.38212	0.989000	0.46669	0.391000	0.30476	1.833000	0.39161	0.406000	0.25560	-1.337000	0.01257	TTC		0.726	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2		NM_005707		4	6	1	0	0.000602214	0.000602	0.000616972	4	6		
C15orf27	123591	broad.mit.edu	37	15	76463343	76463343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:76463343G>A	ENST00000388942.3	+	7	799	c.523G>A	c.(523-525)Ggg>Agg	p.G175R		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	175					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GGTGTTTGACGGGGCTGTGAT	0.617																																						uc002bbq.2		NaN																	0					0						c.(523-525)GGG>AGG		hypothetical protein LOC123591							51.0	51.0	51.0					15																	76463343		2197	4294	6491	SO:0001583	missense	123591					integral to membrane		g.chr15:76463343G>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.523G>A	15.37:g.76463343G>A	ENSP00000373594:p.Gly175Arg					C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR	p.G175R	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			7	678	+			175			Helical; (Potential).		Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.523G>A	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847633	0.91277	.	.	ENSG00000169758	ENST00000388942	D	0.97455	-4.39	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000003	D	0.98226	0.9413	M	0.75264	2.295	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.99437	1.0937	10	0.72032	D	0.01	-13.2524	17.0045	0.86389	0.0:0.0:1.0:0.0	.	175	Q2M3C6	CO027_HUMAN	R	175	ENSP00000373594:G175R	ENSP00000373594:G175R	G	+	1	0	C15orf27	74250398	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.105000	0.94246	2.247000	0.74100	0.561000	0.74099	GGG		0.617	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2		NM_152335		20	19	0	0	0	0.004656	0	20	19		
IREB2	3658	broad.mit.edu	37	15	78790409	78790409	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:78790409C>T	ENST00000258886.8	+	22	2965	c.2816C>T	c.(2815-2817)tCg>tTg	p.S939L		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	939					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GTGATTGCTTCGTTTGAAGAT	0.358																																					NSCLC(200;764 2208 35157 49871 50830)	uc002bdr.2		NaN																	0					0						c.(2815-2817)TCG>TTG		iron-responsive element binding protein 2							151.0	136.0	141.0					15																	78790409		2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78790409C>T	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2816C>T	15.37:g.78790409C>T	ENSP00000258886:p.Ser939Leu					IREB2_uc010unb.1_Missense_Mutation_p.S689L	p.S939L	NM_004136	NP_004127	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	22	2978	+			939					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.2816C>T	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603628	0.46423	.	.	ENSG00000136381	ENST00000258886	T	0.17691	2.26	5.98	5.98	0.97165	Aconitase/3-isopropylmalate dehydratase, swivel (2);	0.855671	0.10694	N	0.644867	T	0.12263	0.0298	N	0.11201	0.11	0.29922	N	0.822618	B	0.02656	0.0	B	0.01281	0.0	T	0.07616	-1.0763	10	0.59425	D	0.04	.	14.0445	0.64698	0.0:0.9227:0.0:0.0773	.	939	P48200	IREB2_HUMAN	L	939	ENSP00000258886:S939L	ENSP00000258886:S939L	S	+	2	0	IREB2	76577464	0.699000	0.27786	0.801000	0.32222	0.965000	0.64279	1.374000	0.34283	2.838000	0.97847	0.591000	0.81541	TCG		0.358	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3		NM_004136		15	87	0	0	0	0.00499	0	15	87		
PDE8A	5151	broad.mit.edu	37	15	85619974	85619974	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:85619974G>C	ENST00000310298.4	+	6	754	c.502G>C	c.(502-504)Gaa>Caa	p.E168Q	PDE8A_ENST00000557957.1_Missense_Mutation_p.E96Q|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000339708.5_Missense_Mutation_p.E168Q|PDE8A_ENST00000394553.1_Missense_Mutation_p.E168Q			O60658	PDE8A_HUMAN	phosphodiesterase 8A	168					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GGTGGATAGAGAAGAGTTGTC	0.289																																						uc002blh.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(502-504)GAA>CAA		phosphodiesterase 8A isoform 1							200.0	193.0	195.0					15																	85619974		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85619974G>C	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.502G>C	15.37:g.85619974G>C	ENSP00000311453:p.Glu168Gln					PDE8A_uc002bli.2_Missense_Mutation_p.E168Q|PDE8A_uc010bnc.2_5'UTR|PDE8A_uc010bnd.2_5'UTR|PDE8A_uc002blj.2_5'UTR|PDE8A_uc002blk.2_5'UTR	p.E168Q	NM_002605	NP_002596	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		5	691	+	Colorectal(223;0.227)		168					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.502G>C	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291679	0.40594	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.46819	0.86;0.86;0.86	4.11	4.11	0.48088	Signal transduction response regulator, receiver domain (1);	0.187886	0.45361	D	0.000379	T	0.59018	0.2163	M	0.76328	2.33	0.52501	D	0.999959	B;P	0.49253	0.407;0.921	B;P	0.51833	0.253;0.681	T	0.64145	-0.6476	10	0.51188	T	0.08	.	14.237	0.65934	0.0:0.0:1.0:0.0	.	168;168	O60658-2;O60658	.;PDE8A_HUMAN	Q	168	ENSP00000311453:E168Q;ENSP00000378056:E168Q;ENSP00000340679:E168Q	ENSP00000311453:E168Q	E	+	1	0	PDE8A	83420978	1.000000	0.71417	0.932000	0.37286	0.425000	0.31504	7.133000	0.77259	2.282000	0.76494	0.511000	0.50034	GAA		0.289	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1		NM_002605		9	103	0	0	0	0.010729	0	9	103		
MFGE8	4240	broad.mit.edu	37	15	89449884	89449884	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:89449884G>A	ENST00000566497.1	-	4	574	c.513C>T	c.(511-513)ttC>ttT	p.F171F	MFGE8_ENST00000268150.8_Silent_p.F171F|MFGE8_ENST00000539437.1_Silent_p.F163F|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Silent_p.F171F|MFGE8_ENST00000542878.1_Silent_p.F127F			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	171	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CATCATGGATGAAATCGAATT	0.512																																						uc002bng.3		NaN																	0				ovary(1)	1						c.(511-513)TTC>TTT		milk fat globule-EGF factor 8 protein isoform a							100.0	94.0	96.0					15																	89449884		2200	4299	6499	SO:0001819	synonymous_variant	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89449884G>A	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.513C>T	15.37:g.89449884G>A						MFGE8_uc002bnf.3_Silent_p.F59F|MFGE8_uc002bnh.3_Silent_p.F171F|MFGE8_uc010bnn.2_Silent_p.F163F|MFGE8_uc010upq.1_Silent_p.F127F|MFGE8_uc010upr.1_Silent_p.F171F|MFGE8_uc010bno.2_Silent_p.F127F	p.F171F	NM_005928	NP_005919	Q08431	MFGM_HUMAN			4	626	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		171			F5/8 type C 1.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Silent	SNP	ENST00000566497.1	37	c.513C>T	CCDS10347.1																																																																																				0.512	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1		NM_005928		23	94	0	0	0	0.005443	0	23	94		
FES	2242	broad.mit.edu	37	15	91433455	91433455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:91433455G>A	ENST00000328850.3	+	9	1325	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	FES_ENST00000394302.1_Missense_Mutation_p.E337K|FES_ENST00000394300.3_Missense_Mutation_p.E337K|FES_ENST00000444422.2_Missense_Mutation_p.E395K|FES_ENST00000450438.2_Missense_Mutation_p.E337K|FES_ENST00000448367.1_3'UTR|FES_ENST00000414248.2_Missense_Mutation_p.E337K	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	395					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGCCCCGGCGAGCCCCCGCC	0.716																																						uc002bpv.2		NaN																	0				lung(2)	2						c.(1183-1185)GAG>AAG		feline sarcoma oncogene isoform 1							9.0	14.0	12.0					15																	91433455		2125	4197	6322	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91433455G>A	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1183G>A	15.37:g.91433455G>A	ENSP00000331504:p.Glu395Lys					FES_uc010uqj.1_Missense_Mutation_p.E337K|FES_uc010uqk.1_Missense_Mutation_p.E377K|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.E337K|FES_uc002bpx.2_Missense_Mutation_p.E395K|FES_uc002bpy.2_Missense_Mutation_p.E337K	p.E395K	NM_002005	NP_001996	P07332	FES_HUMAN	Lung(145;0.229)		9	1279	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		395					B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.1183G>A	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134610	0.77662	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.79554	-0.97;-1.0;-1.28;-0.98;-0.97;-1.0	5.04	4.12	0.48240	.	0.098101	0.64402	D	0.000002	D	0.87763	0.6259	M	0.65975	2.015	0.23673	N	0.997149	D;D;B;D;D;D	0.76494	0.994;0.998;0.004;0.998;0.999;0.994	P;D;B;P;D;P	0.78314	0.738;0.98;0.002;0.866;0.991;0.616	T	0.81052	-0.1107	10	0.72032	D	0.01	-37.3684	13.989	0.64353	0.0735:0.0:0.9265:0.0	.	377;337;337;337;395;395	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	K	395;337;337;395;337;337	ENSP00000331504:E395K;ENSP00000414629:E337K;ENSP00000377839:E337K;ENSP00000400868:E395K;ENSP00000377837:E337K;ENSP00000409915:E337K	ENSP00000331504:E395K	E	+	1	0	FES	89234459	1.000000	0.71417	0.866000	0.34008	0.170000	0.22686	7.337000	0.79256	1.347000	0.45714	0.650000	0.86243	GAG		0.716	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1		NM_002005		13	79	0	0	0	0.003163	0	13	79		
CHD2	1106	broad.mit.edu	37	15	93486105	93486105	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:93486105G>C	ENST00000394196.4	+	9	1927	c.859G>C	c.(859-861)Gaa>Caa	p.E287Q	CHD2_ENST00000420239.2_Missense_Mutation_p.E287Q|CHD2_ENST00000557381.1_Missense_Mutation_p.E287Q|CHD2_ENST00000536619.1_Missense_Mutation_p.E300Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	287	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ATATGCGATTGAAGCTAATGG	0.418																																						uc002bsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(859-861)GAA>CAA		chromodomain helicase DNA binding protein 2							105.0	84.0	91.0					15																	93486105		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93486105G>C	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.859G>C	15.37:g.93486105G>C	ENSP00000377747:p.Glu287Gln					CHD2_uc002bsm.1_Missense_Mutation_p.E287Q|CHD2_uc002bsn.2_Missense_Mutation_p.E287Q|CHD2_uc002bso.1_Missense_Mutation_p.E287Q|CHD2_uc010urb.1_Missense_Mutation_p.E300Q|CHD2_uc010bof.1_RNA	p.E287Q	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		9	1434	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		287			Chromo 1.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.859G>C	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146372	0.57044	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.52	5.52	0.82312	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.35067	U	0.003462	T	0.65217	0.2670	M	0.86028	2.79	0.80722	D	1	P;B;B;P	0.51537	0.946;0.079;0.147;0.573	P;B;B;P	0.50570	0.644;0.075;0.101;0.558	T	0.68503	-0.5391	10	0.45353	T	0.12	-7.642	19.8041	0.96521	0.0:0.0:1.0:0.0	.	300;287;287;287	B7Z3I4;O14647;O14647-2;Q6AI05	.;CHD2_HUMAN;.;.	Q	287;287;287;300	ENSP00000377747:E287Q;ENSP00000451366:E287Q;ENSP00000406581:E287Q;ENSP00000443618:E300Q	ENSP00000311700:E40Q	E	+	1	0	CHD2	91287109	1.000000	0.71417	0.985000	0.45067	0.876000	0.50452	7.537000	0.82033	2.756000	0.94617	0.563000	0.77884	GAA		0.418	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271		8	58	0	0	0	0.010729	0	8	58		
CHD2	1106	broad.mit.edu	37	15	93522446	93522446	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:93522446C>T	ENST00000394196.4	+	22	3877	c.2809C>T	c.(2809-2811)Cat>Tat	p.H937Y	CHD2_ENST00000557381.1_Missense_Mutation_p.H937Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	937	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGTATTAGATCATCTGGTGAT	0.473																																						uc002bsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(2809-2811)CAT>TAT		chromodomain helicase DNA binding protein 2							202.0	194.0	197.0					15																	93522446		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93522446C>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2809C>T	15.37:g.93522446C>T	ENSP00000377747:p.His937Tyr					CHD2_uc002bso.1_Missense_Mutation_p.H937Y|CHD2_uc010bog.1_3'UTR|CHD2_uc010boh.1_Missense_Mutation_p.H131Y	p.H937Y	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		22	3384	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		937			Helicase C-terminal.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.2809C>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	35	5.567317	0.96540	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.96136	-3.92;-3.92	5.78	5.78	0.91487	Helicase, C-terminal (1);	0.000000	0.35067	U	0.003470	D	0.96892	0.8985	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.993;0.995;0.998	D	0.96431	0.9319	10	0.46703	T	0.11	-24.5902	20.0983	0.97858	0.0:1.0:0.0:0.0	.	937;937;937	A8K9Y5;O14647;O14647-2	.;CHD2_HUMAN;.	Y	937	ENSP00000377747:H937Y;ENSP00000451366:H937Y	ENSP00000377747:H937Y	H	+	1	0	CHD2	91323450	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.731000	0.84895	2.755000	0.94549	0.552000	0.68991	CAT		0.473	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271		59	219	0	0	0	0.00361	0	59	219		
CHD2	1106	broad.mit.edu	37	15	93527686	93527686	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:93527686G>C	ENST00000394196.4	+	25	4261	c.3193G>C	c.(3193-3195)Gaa>Caa	p.E1065Q	CHD2_ENST00000557381.1_Missense_Mutation_p.E1065Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1065	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAAGGAGCTAGAAGAAATTTA	0.408																																						uc002bsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(3193-3195)GAA>CAA		chromodomain helicase DNA binding protein 2							73.0	76.0	75.0					15																	93527686		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93527686G>C	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3193G>C	15.37:g.93527686G>C	ENSP00000377747:p.Glu1065Gln					CHD2_uc002bso.1_Missense_Mutation_p.E1065Q	p.E1065Q	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		25	3768	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1065			Glu-rich.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.3193G>C	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629991	0.46944	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.02631	4.22;4.22	4.71	4.71	0.59529	.	0.000000	0.34628	U	0.003817	T	0.02888	0.0086	N	0.20483	0.58	0.80722	D	1	B;B	0.23249	0.01;0.082	B;B	0.25291	0.005;0.059	T	0.54262	-0.8320	10	0.52906	T	0.07	-20.0772	13.581	0.61903	0.0:0.1557:0.8443:0.0	.	1065;1065	O14647;O14647-2	CHD2_HUMAN;.	Q	1065	ENSP00000377747:E1065Q;ENSP00000451366:E1065Q	ENSP00000377747:E1065Q	E	+	1	0	CHD2	91328690	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.550000	0.73905	2.448000	0.82819	0.591000	0.81541	GAA		0.408	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271		6	24	0	0	0	0.001984	0	6	24		
MCTP2	55784	broad.mit.edu	37	15	94986184	94986184	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:94986184G>C	ENST00000357742.4	+	18	2245	c.2245G>C	c.(2245-2247)Gac>Cac	p.D749H	MCTP2_ENST00000451018.3_Intron	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	749					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGATGAAGATGACAAGGTGCG	0.383																																						uc002btj.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2245-2247)GAC>CAC		multiple C2 domains, transmembrane 2 isoform 1							136.0	129.0	132.0					15																	94986184		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94986184G>C	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2245G>C	15.37:g.94986184G>C	ENSP00000350377:p.Asp749His					MCTP2_uc010boj.2_Missense_Mutation_p.D478H|MCTP2_uc010bok.2_Intron|MCTP2_uc002btl.2_Missense_Mutation_p.D337H	p.D749H	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		18	2310	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		749					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.2245G>C	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334314	0.81801	.	.	ENSG00000140563	ENST00000357742	T	0.67698	-0.28	6.02	6.02	0.97574	Phosphoribosyltransferase C-terminal (1);	0.368270	0.34025	N	0.004337	T	0.75568	0.3867	L	0.52011	1.625	0.80722	D	1	P	0.43477	0.808	P	0.54312	0.748	T	0.74919	-0.3500	10	0.62326	D	0.03	.	18.7212	0.91694	0.0:0.0:1.0:0.0	.	749	Q6DN12	MCTP2_HUMAN	H	749	ENSP00000350377:D749H	ENSP00000350377:D749H	D	+	1	0	MCTP2	92787188	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	6.069000	0.71209	2.865000	0.98341	0.655000	0.94253	GAC		0.383	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3		NM_018349		8	64	0	0	0	0.00308	0	8	64		
LRRC28	123355	broad.mit.edu	37	15	99892583	99892583	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:99892583G>A	ENST00000301981.3	+	7	842	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000422500.2_Missense_Mutation_p.R132Q|LRRC28_ENST00000447360.2_Missense_Mutation_p.R201Q|LRRC28_ENST00000558879.1_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	201										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GATTTAGGTCGATCTCGAGAA	0.348																																						uc002bva.1		NaN																	0					0						c.(601-603)CGA>CAA		leucine rich repeat containing 28							162.0	153.0	156.0					15																	99892583		2197	4297	6494	SO:0001583	missense	123355							g.chr15:99892583G>A	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.602G>A	15.37:g.99892583G>A	ENSP00000304923:p.Arg201Gln					LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_Missense_Mutation_p.R47Q|LRRC28_uc010urt.1_Missense_Mutation_p.R15Q|LRRC28_uc002bvc.1_Missense_Mutation_p.R201Q|LRRC28_uc010uru.1_Missense_Mutation_p.R132Q|LRRC28_uc002bvd.1_Intron	p.R201Q	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		7	757	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		201			LRR 8.		A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	c.602G>A	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142874	0.77888	.	.	ENSG00000168904	ENST00000301981;ENST00000447360;ENST00000422500	T;T;T	0.30714	2.23;2.23;1.52	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.997	D;P;D	0.80764	0.994;0.811;0.968	T	0.05068	-1.0908	10	0.05959	T	0.93	.	18.4386	0.90656	0.0:0.0:1.0:0.0	.	132;201;201	B4DHL3;Q86X40-2;Q86X40	.;.;LRC28_HUMAN	Q	201;201;132	ENSP00000304923:R201Q;ENSP00000404520:R201Q;ENSP00000398606:R132Q	ENSP00000304923:R201Q	R	+	2	0	LRRC28	97710106	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.367000	0.97148	2.597000	0.87782	0.655000	0.94253	CGA		0.348	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1		NM_144598		12	106	0	0	0	0.003163	0	12	106		
LRRK1	79705	broad.mit.edu	37	15	101566280	101566280	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:101566280C>G	ENST00000388948.3	+	17	2702	c.2343C>G	c.(2341-2343)ctC>ctG	p.L781L	LRRK1_ENST00000284395.5_Silent_p.L778L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCTGGCACTCTGCCGCTCCC	0.597																																						uc002bwr.2		NaN																	0				ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(2341-2343)CTC>CTG		leucine-rich repeat kinase 1							77.0	87.0	83.0					15																	101566280		2111	4230	6341	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101566280C>G	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2343C>G	15.37:g.101566280C>G						LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	p.L781L	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		17	2662	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		781			Roc.			Silent	SNP	ENST00000388948.3	37	c.2343C>G	CCDS42086.1																																																																																				0.597	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2		NM_024652		25	129	0	0	0	0.009535	0	25	129		
RAB40C	57799	broad.mit.edu	37	16	676021	676021	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:676021C>T	ENST00000248139.3	+	5	668	c.465C>T	c.(463-465)gtC>gtT	p.V155V	RAB40C_ENST00000539661.1_Silent_p.V155V|RAB40C_ENST00000535977.1_Silent_p.V155V|RAB40C_ENST00000538492.1_Silent_p.V155V	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	155					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TCTTTGAGGTCAGCCCCCTGT	0.607																																					Melanoma(123;1631 1690 28262 44104 44957)	uc002chr.2		NaN																	0					0						c.(463-465)GTC>GTT		RAB40C, member RAS oncogene family							113.0	96.0	101.0					16																	676021		2201	4300	6501	SO:0001819	synonymous_variant	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:676021C>T	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.465C>T	16.37:g.676021C>T						RAB40C_uc002chq.2_Silent_p.V136V	p.V155V	NM_021168	NP_066991	Q96S21	RB40C_HUMAN			5	581	+		Hepatocellular(780;0.0218)	155					A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Silent	SNP	ENST00000248139.3	37	c.465C>T	CCDS10413.1																																																																																				0.607	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4		NM_021168		21	142	0	0	0	0.00333	0	21	142		
PTX4	390667	broad.mit.edu	37	16	1536456	1536456	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:1536456G>A	ENST00000447419.2	-	3	946	c.921C>T	c.(919-921)tcC>tcT	p.S307S	PTX4_ENST00000293922.1_Silent_p.S302S|PTX4_ENST00000440447.2_Missense_Mutation_p.P159L			Q96A99	PTX4_HUMAN	pentraxin 4, long	307	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCAGGCGGCCGGAGGCCGTGC	0.647																																						uc010uvf.1		NaN																	0					0						c.(904-906)TCC>TCT		neuronal pentraxin II-like							47.0	53.0	51.0					16																	1536456		2199	4300	6499	SO:0001819	synonymous_variant	390667					extracellular region	metal ion binding	g.chr16:1536456G>A		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.921C>T	16.37:g.1536456G>A							p.S302S	NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN			3	906	-			307			Pentaxin.			Silent	SNP	ENST00000447419.2	37	c.906C>T																																																																																					0.647	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1		NM_001013658		17	62	0	0	0	0.008871	0	17	62		
IFT140	9742	broad.mit.edu	37	16	1575300	1575300	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:1575300G>A	ENST00000426508.2	-	22	3159	c.2796C>T	c.(2794-2796)ttC>ttT	p.F932F	IFT140_ENST00000361339.5_Silent_p.F126F	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	932					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGGGCACCTCGAAGCGGTGCG	0.627																																						uc002cmb.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2794-2796)TTC>TTT		intraflagellar transport 140							88.0	85.0	86.0					16																	1575300		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1575300G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2796C>T	16.37:g.1575300G>A						IFT140_uc002clz.2_Silent_p.F545F	p.F932F	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			22	3158	-		Hepatocellular(780;0.219)	932			TPR 3.		A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.2796C>T	CCDS10439.1																																																																																				0.627	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2		NM_014714		18	135	0	0	0	0.00333	0	18	135		
AMDHD2	51005	broad.mit.edu	37	16	2578543	2578543	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2578543T>C	ENST00000293971.6	+	8	1047	c.953T>C	c.(952-954)cTg>cCg	p.L318P	AMDHD2_ENST00000413459.3_Missense_Mutation_p.L318P|AMDHD2_ENST00000302956.4_Missense_Mutation_p.L318P|AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	318					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GTGGACGGTCTGACGGCCTAC	0.701																																						uc002cqq.2		NaN																	0				skin(2)|large_intestine(1)|breast(1)	4						c.(952-954)CTG>CCG		amidohydrolase domain containing 2 isoform 1							49.0	44.0	46.0					16																	2578543		2198	4298	6496	SO:0001583	missense	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2578543T>C	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.953T>C	16.37:g.2578543T>C	ENSP00000293971:p.Leu318Pro					AMDHD2_uc002cqp.2_Missense_Mutation_p.L318P|AMDHD2_uc010uwc.1_Missense_Mutation_p.L318P|AMDHD2_uc010uwd.1_Missense_Mutation_p.L82P	p.L318P	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN			8	1050	+			318					B4DL77|Q8WV54	Missense_Mutation	SNP	ENST00000293971.6	37	c.953T>C		.	.	.	.	.	.	.	.	.	.	T	12.52	1.963701	0.34659	.	.	ENSG00000162066	ENST00000413459;ENST00000302956;ENST00000293971	D;D;T	0.99932	-8.2;-8.2;0.39	5.51	5.51	0.81932	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.99829	0.9923	L	0.38838	1.175	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.994	D;D;D	0.66351	0.921;0.943;0.921	D	0.95710	0.8757	10	0.54805	T	0.06	-11.1389	14.4501	0.67379	0.0:0.0:0.0:1.0	.	318;318;318	Q9Y303-3;Q9Y303;Q9Y303-2	.;NAGA_HUMAN;.	P	318	ENSP00000391596:L318P;ENSP00000307481:L318P;ENSP00000293971:L318P	ENSP00000293971:L318P	L	+	2	0	AMDHD2	2518544	1.000000	0.71417	0.765000	0.31456	0.103000	0.19146	5.977000	0.70492	2.088000	0.63022	0.533000	0.62120	CTG		0.701	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1		NM_015944		5	65	0	0	0	0.000602	0	5	65		
SRRM2	23524	broad.mit.edu	37	16	2811715	2811715	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2811715G>A	ENST00000301740.8	+	11	1735	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	396	Pro-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCCCCATCTGAGGCCTCTCC	0.607																																						uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1186-1188)GAG>AAG		splicing coactivator subunit SRm300							105.0	113.0	110.0					16																	2811715		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2811715G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1186G>A	16.37:g.2811715G>A	ENSP00000301740:p.Glu396Lys					SRRM2_uc002crj.1_Missense_Mutation_p.E300K|SRRM2_uc002crl.1_Missense_Mutation_p.E396K|SRRM2_uc010bsu.1_Missense_Mutation_p.E300K	p.E396K	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	1735	+			396			Pro-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.1186G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033438	0.35893	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.25414	1.8	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000013	T	0.34919	0.0914	N	0.24115	0.695	0.38089	D	0.936907	D	0.63880	0.993	D	0.70935	0.971	T	0.07849	-1.0751	10	0.20046	T	0.44	-13.0289	15.7228	0.77728	0.0:0.0:1.0:0.0	.	396	Q9UQ35	SRRM2_HUMAN	K	396;396;361	ENSP00000301740:E396K	ENSP00000301740:E396K	E	+	1	0	SRRM2	2751716	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.816000	0.62642	2.778000	0.95560	0.650000	0.86243	GAG		0.607	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				21	142	0	0	0	0.00632	0	21	142		
SRRM2	23524	broad.mit.edu	37	16	2812166	2812166	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2812166G>C	ENST00000301740.8	+	11	2186	c.1637G>C	c.(1636-1638)aGa>aCa	p.R546T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	546	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTAGGAGCAGAAATACCCAG	0.597																																						uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1636-1638)AGA>ACA		splicing coactivator subunit SRm300							43.0	45.0	44.0					16																	2812166		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812166G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1637G>C	16.37:g.2812166G>C	ENSP00000301740:p.Arg546Thr					SRRM2_uc002crj.1_Missense_Mutation_p.R450T|SRRM2_uc002crl.1_Missense_Mutation_p.R546T|SRRM2_uc010bsu.1_Missense_Mutation_p.R450T	p.R546T	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	2186	+			546			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.1637G>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555094	0.45487	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.26957	1.7	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000003	T	0.28896	0.0717	N	0.24115	0.695	0.39876	D	0.973574	P	0.51791	0.948	P	0.50049	0.629	T	0.02144	-1.1206	10	0.54805	T	0.06	-12.6937	17.7727	0.88497	0.0:0.0:1.0:0.0	.	546	Q9UQ35	SRRM2_HUMAN	T	546;546;511	ENSP00000301740:R546T	ENSP00000301740:R546T	R	+	2	0	SRRM2	2752167	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.432000	0.73400	2.801000	0.96364	0.655000	0.94253	AGA		0.597	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				4	31	0	0	0	0.001168	0	4	31		
SRRM2	23524	broad.mit.edu	37	16	2812176	2812176	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2812176G>A	ENST00000301740.8	+	11	2196	c.1647G>A	c.(1645-1647)caG>caA	p.Q549Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	549	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAAATACCCAGAGAAGAGGCA	0.612																																						uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1645-1647)CAG>CAA		splicing coactivator subunit SRm300							40.0	43.0	42.0					16																	2812176		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812176G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1647G>A	16.37:g.2812176G>A						SRRM2_uc002crj.1_Silent_p.Q453Q|SRRM2_uc002crl.1_Silent_p.Q549Q|SRRM2_uc010bsu.1_Silent_p.Q453Q	p.Q549Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	2196	+			549			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.1647G>A	CCDS32373.1																																																																																				0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				5	31	0	0	0	0.001984	0	5	31		
SRRM2	23524	broad.mit.edu	37	16	2812362	2812362	+	Silent	SNP	G	G	C	rs372017967		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2812362G>C	ENST00000301740.8	+	11	2382	c.1833G>C	c.(1831-1833)cgG>cgC	p.R611R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	611	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CACCAGCCCGGAGGGGCAGGT	0.622																																						uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1831-1833)CGG>CGC		splicing coactivator subunit SRm300							58.0	60.0	59.0					16																	2812362		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812362G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1833G>C	16.37:g.2812362G>C						SRRM2_uc002crj.1_Silent_p.R515R|SRRM2_uc002crl.1_Silent_p.R611R|SRRM2_uc010bsu.1_Silent_p.R515R	p.R611R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	2382	+			611			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.1833G>C	CCDS32373.1																																																																																				0.622	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				6	85	0	0	0	0.001168	0	6	85		
SRRM2	23524	broad.mit.edu	37	16	2814751	2814751	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2814751G>C	ENST00000301740.8	+	11	4771	c.4222G>C	c.(4222-4224)Gat>Cat	p.D1408H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1408	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACCTGTGCTTGATGCTGTACC	0.473																																						uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(4222-4224)GAT>CAT		splicing coactivator subunit SRm300							206.0	201.0	203.0					16																	2814751		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2814751G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4222G>C	16.37:g.2814751G>C	ENSP00000301740:p.Asp1408His					SRRM2_uc002crj.1_Missense_Mutation_p.D1312H|SRRM2_uc002crl.1_Missense_Mutation_p.D1408H|SRRM2_uc010bsu.1_Missense_Mutation_p.D1312H	p.D1408H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	4771	+			1408			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.4222G>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	8.455	0.853936	0.17106	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.31247	1.5	6.17	6.17	0.99709	.	0.177131	0.39909	N	0.001232	T	0.33206	0.0855	L	0.46157	1.445	0.33313	D	0.566336	P	0.49696	0.927	B	0.41946	0.371	T	0.46582	-0.9181	10	0.66056	D	0.02	-1.4424	18.3732	0.90420	0.0:0.0:1.0:0.0	.	1408	Q9UQ35	SRRM2_HUMAN	H	1408;1408;660	ENSP00000301740:D1408H	ENSP00000301740:D1408H	D	+	1	0	SRRM2	2754752	1.000000	0.71417	0.953000	0.39169	0.652000	0.38707	3.770000	0.55310	2.941000	0.99782	0.655000	0.94253	GAT		0.473	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				39	226	0	0	0	0.010771	0	39	226		
PRSS33	260429	broad.mit.edu	37	16	2835105	2835105	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2835105G>A	ENST00000293851.5	-	5	741	c.582C>T	c.(580-582)gaC>gaT	p.D194D	PRSS33_ENST00000576886.1_Missense_Mutation_p.R104W|PRSS33_ENST00000570702.1_Silent_p.D194D	NM_152891.2	NP_690851.2	Q8NF86	PRS33_HUMAN	protease, serine, 33	194	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			prostate(1)	1						GGTAGAGGCCGTCGCAGGTGC	0.687																																					NSCLC(194;489 2153 16702 19171 27758)	uc002cro.1		NaN																	0					0						c.(580-582)GAC>GAT		protease, serine, 33 precursor							6.0	8.0	7.0					16																	2835105		2057	4170	6227	SO:0001819	synonymous_variant	260429				proteolysis		serine-type endopeptidase activity	g.chr16:2835105G>A	AF536382	CCDS42110.1	16p13.3	2014-09-04			ENSG00000103355	ENSG00000103355		"""Serine peptidases / Serine peptidases"""	30405	protein-coding gene	gene with protein product		613797				12795636	Standard	NM_152891		Approved	EOS	uc002cro.1	Q8NF86	OTTHUMG00000177360	ENST00000293851.5:c.582C>T	16.37:g.2835105G>A						PRSS33_uc002crp.1_Missense_Mutation_p.R104W|PRSS33_uc010uwh.1_Silent_p.D194D	p.D194D	NM_152891	NP_690851	Q8NF86	PRS33_HUMAN			5	742	-			194			Peptidase S1.		A6NNQ3|Q8N171	Silent	SNP	ENST00000293851.5	37	c.582C>T	CCDS42110.1																																																																																				0.687	PRSS33-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436446.1		NM_152891		3	11	0	0	0	0.009096	0	3	11		
ZNF213	7760	broad.mit.edu	37	16	3191255	3191255	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:3191255C>T	ENST00000396878.3	+	6	1762	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	ZNF213_ENST00000576416.1_Silent_p.F429F|CASP16_ENST00000428155.1_5'Flank|ZNF213_ENST00000416391.2_Silent_p.F271F|ZNF213_ENST00000574902.1_Silent_p.F429F	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	429					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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						AGCGGCCCTTCGGCTGCGGAG	0.672																																						uc010uws.1		NaN																	0					0						c.(1285-1287)TTC>TTT		zinc finger protein 213							39.0	41.0	40.0					16																	3191255		2197	4299	6496	SO:0001819	synonymous_variant	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3191255C>T	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1287C>T	16.37:g.3191255C>T						ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Silent_p.F429F|ZNF213_uc010uwt.1_3'UTR|uc002cuf.1_5'Flank	p.F429F	NM_004220	NP_004211	O14771	ZN213_HUMAN			6	1734	+			429			C2H2-type 5.		A8K1B9|B4DMG6|Q96IS1	Silent	SNP	ENST00000396878.3	37	c.1287C>T	CCDS10495.1																																																																																				0.672	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1		NM_004220		11	99	0	0	0	0.001855	0	11	99		
ZNF200	7752	broad.mit.edu	37	16	3274032	3274032	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:3274032C>T	ENST00000431561.3	-	5	1660	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Missense_Mutation_p.E350K|ZNF200_ENST00000396871.4_Missense_Mutation_p.E349K|ZNF200_ENST00000396870.4_Missense_Mutation_p.E349K|ZNF200_ENST00000575948.1_Missense_Mutation_p.E349K|ZNF200_ENST00000396868.3_Missense_Mutation_p.E349K	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						AGCACAAACTCCTCATTCTTT	0.448																																						uc002cuj.2		NaN																	0					0						c.(1048-1050)GAG>AAG		zinc finger protein 200 isoform 1							209.0	223.0	218.0					16																	3274032		2197	4300	6497	SO:0001583	missense	7752				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr16:3274032C>T	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.1048G>A	16.37:g.3274032C>T	ENSP00000395723:p.Glu350Lys					ZNF200_uc002cum.3_Missense_Mutation_p.E349K|ZNF200_uc010bti.2_Missense_Mutation_p.E349K|ZNF200_uc002cuk.2_Missense_Mutation_p.E350K|ZNF200_uc002cui.2_Missense_Mutation_p.E349K|ZNF200_uc002cul.3_Missense_Mutation_p.E349K	p.E350K	NM_003454	NP_003445	P98182	ZN200_HUMAN			5	1680	-			350			C2H2-type 4.		D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	37	c.1048G>A	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	C	3.929	-0.016625	0.07681	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.31	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.512553	0.16323	N	0.219479	T	0.13286	0.0322	N	0.12422	0.21	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.007	B;B;B	0.17433	0.018;0.018;0.011	T	0.33854	-0.9852	10	0.07175	T	0.84	-14.8462	5.4703	0.16666	0.0:0.6606:0.1659:0.1735	.	349;350;349	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	K	350;349;349;349;350	ENSP00000380077:E349K;ENSP00000380080:E349K;ENSP00000405786:E349K;ENSP00000395723:E350K	ENSP00000380077:E349K	E	-	1	0	ZNF200	3214033	0.000000	0.05858	0.389000	0.26208	0.698000	0.40448	-0.087000	0.11215	0.794000	0.33899	0.557000	0.71058	GAG		0.448	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1				14	153	0	0	0	0.004007	0	14	153		
TFAP4	7023	broad.mit.edu	37	16	4310139	4310139	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4310139G>A	ENST00000204517.6	-	6	1102	c.774C>T	c.(772-774)gtC>gtT	p.V258V		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	258					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CAGAGTTGATGACCGAGGAGG	0.622																																						uc010uxg.1		NaN																	0				ovary(1)	1						c.(772-774)GTC>GTT		transcription factor AP-4 (activating enhancer							117.0	108.0	111.0					16																	4310139		2197	4300	6497	SO:0001819	synonymous_variant	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4310139G>A	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.774C>T	16.37:g.4310139G>A							p.V258V	NM_003223	NP_003214	Q01664	TFAP4_HUMAN			6	1028	-			258					O60409	Silent	SNP	ENST00000204517.6	37	c.774C>T	CCDS10510.1																																																																																				0.622	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2		NM_003223		24	172	0	0	0	0.005443	0	24	172		
PPL	5493	broad.mit.edu	37	16	4934113	4934113	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4934113C>G	ENST00000345988.2	-	22	4632	c.4543G>C	c.(4543-4545)Gag>Cag	p.E1515Q	PPL_ENST00000590782.2_Missense_Mutation_p.E1513Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1515					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTCTGGATCTCTTGCTCGGTG	0.637																																						uc002cyd.1		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4543-4545)GAG>CAG		periplakin							57.0	50.0	52.0					16																	4934113		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934113C>G	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4543G>C	16.37:g.4934113C>G	ENSP00000340510:p.Glu1515Gln						p.E1515Q	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	4633	-			1515			Potential.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.4543G>C	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075703	0.76415	.	.	ENSG00000118898	ENST00000345988	T	0.50277	0.75	5.83	5.83	0.93111	.	0.062590	0.64402	D	0.000006	T	0.72875	0.3515	M	0.80183	2.485	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.74797	-0.3543	10	0.72032	D	0.01	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	1515	O60437	PEPL_HUMAN	Q	1515	ENSP00000340510:E1515Q	ENSP00000340510:E1515Q	E	-	1	0	PPL	4874114	1.000000	0.71417	0.992000	0.48379	0.681000	0.39784	7.786000	0.85741	2.769000	0.95229	0.655000	0.94253	GAG		0.637	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		NM_002705		8	48	0	0	0	0.004482	0	8	48		
PPL	5493	broad.mit.edu	37	16	4934819	4934819	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4934819C>T	ENST00000345988.2	-	22	3926	c.3837G>A	c.(3835-3837)ctG>ctA	p.L1279L	PPL_ENST00000590782.2_Silent_p.L1277L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1279					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGGTGTCTTTCAGGGCCTGGA	0.532																																						uc002cyd.1		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3835-3837)CTG>CTA		periplakin							175.0	177.0	176.0					16																	4934819		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934819C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3837G>A	16.37:g.4934819C>T							p.L1279L	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	3927	-			1279			Potential.		O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.3837G>A	CCDS10526.1																																																																																				0.532	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		NM_002705		27	132	0	0	0	0.003271	0	27	132		
PPL	5493	broad.mit.edu	37	16	4934921	4934921	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4934921C>T	ENST00000345988.2	-	22	3824	c.3735G>A	c.(3733-3735)gaG>gaA	p.E1245E	PPL_ENST00000590782.2_Silent_p.E1243E	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1245					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GAAGCTCCTTCTCCATCTCAG	0.532																																						uc002cyd.1		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3733-3735)GAG>GAA		periplakin							127.0	117.0	120.0					16																	4934921		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934921C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3735G>A	16.37:g.4934921C>T							p.E1245E	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	3825	-			1245			Potential.		O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.3735G>A	CCDS10526.1																																																																																				0.532	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		NM_002705		10	70	0	0	0	0.008291	0	10	70		
PPL	5493	broad.mit.edu	37	16	4935359	4935359	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4935359C>T	ENST00000345988.2	-	22	3386	c.3297G>A	c.(3295-3297)aaG>aaA	p.K1099K	PPL_ENST00000590782.2_Silent_p.K1097K	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1099					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTCTAGCCTCTTGAGCTTGT	0.632																																						uc002cyd.1		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3295-3297)AAG>AAA		periplakin							93.0	91.0	91.0					16																	4935359		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935359C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3297G>A	16.37:g.4935359C>T							p.K1099K	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	3387	-			1099			Potential.		O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.3297G>A	CCDS10526.1																																																																																				0.632	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		NM_002705		17	114	0	0	0	0.008871	0	17	114		
PPL	5493	broad.mit.edu	37	16	4939015	4939015	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4939015G>C	ENST00000345988.2	-	19	2450	c.2361C>G	c.(2359-2361)atC>atG	p.I787M	PPL_ENST00000590782.2_Missense_Mutation_p.I785M	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	787					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AATTGGCACAGATCTTCTGTA	0.448																																						uc002cyd.1		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2359-2361)ATC>ATG		periplakin							338.0	330.0	333.0					16																	4939015		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4939015G>C	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2361C>G	16.37:g.4939015G>C	ENSP00000340510:p.Ile787Met						p.I787M	NM_002705	NP_002696	O60437	PEPL_HUMAN			19	2451	-			787			Spectrin 4.|Potential.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.2361C>G	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	9.707	1.156106	0.21454	.	.	ENSG00000118898	ENST00000345988	T	0.52057	0.68	5.48	3.43	0.39272	.	0.228496	0.35805	N	0.002966	T	0.36303	0.0962	L	0.40543	1.245	0.21897	N	0.999484	P	0.39216	0.664	B	0.35353	0.201	T	0.32348	-0.9910	10	0.62326	D	0.03	.	10.8159	0.46575	0.0:0.3028:0.5801:0.1171	.	787	O60437	PEPL_HUMAN	M	787	ENSP00000340510:I787M	ENSP00000340510:I787M	I	-	3	3	PPL	4879016	1.000000	0.71417	0.114000	0.21550	0.189000	0.23516	0.509000	0.22707	1.279000	0.44446	0.555000	0.69702	ATC		0.448	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		NM_002705		55	485	0	0	0	0.00361	0	55	485		
FAM86A	196483	broad.mit.edu	37	16	5145479	5145479	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:5145479C>T	ENST00000427587.4	-	2	201	c.133G>A	c.(133-135)Gag>Aag	p.E45K	FAM86A_ENST00000587133.1_Missense_Mutation_p.E45K|FAM86A_ENST00000458008.4_Missense_Mutation_p.E45K	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	45						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CGCAGCAGCTCAGAATCTGAT	0.478																																						uc002cyo.2		NaN																	0					0						c.(133-135)GAG>AAG		hypothetical protein LOC196483 isoform 1							69.0	73.0	72.0					16																	5145479		2197	4296	6493	SO:0001583	missense	196483							g.chr16:5145479C>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.133G>A	16.37:g.5145479C>T	ENSP00000398502:p.Glu45Lys					FAM86A_uc002cyp.2_Missense_Mutation_p.E45K	p.E45K	NM_201400	NP_958802	Q96G04	FA86A_HUMAN			2	182	-			45					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.133G>A	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	C	9.380	1.072870	0.20147	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.25414	1.8;1.8	4.06	0.961	0.19638	.	0.386769	0.21993	U	0.066140	T	0.23965	0.0580	M	0.72894	2.215	0.21473	N	0.999673	B;B	0.17038	0.02;0.011	B;B	0.25759	0.063;0.029	T	0.21861	-1.0233	10	0.34782	T	0.22	.	4.582	0.12264	0.0:0.5868:0.1992:0.2141	.	45;45	Q96G04-2;Q96G04	.;FA86A_HUMAN	K	45	ENSP00000389710:E45K;ENSP00000398502:E45K	ENSP00000398502:E45K	E	-	1	0	FAM86A	5085480	0.045000	0.20229	0.204000	0.23530	0.294000	0.27393	0.079000	0.14782	0.056000	0.16144	0.455000	0.32223	GAG		0.478	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1		NM_201400		14	79	0	0	0	0.006122	0	14	79		
ATF7IP2	80063	broad.mit.edu	37	16	10576009	10576009	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:10576009G>A	ENST00000396560.2	+	12	2179	c.1952G>A	c.(1951-1953)aGa>aAa	p.R651K	ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R651K|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.R195K|ATF7IP2_ENST00000396559.1_3'UTR	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	651	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						GCTTCCAACAGATACTATTTT	0.338																																						uc002czu.2		NaN																	0					0						c.(1951-1953)AGA>AAA		activating transcription factor 7 interacting							80.0	81.0	81.0					16																	10576009		2197	4300	6497	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10576009G>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1952G>A	16.37:g.10576009G>A	ENSP00000379808:p.Arg651Lys					ATF7IP2_uc002czv.2_3'UTR|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Missense_Mutation_p.R195K|ATF7IP2_uc002czw.2_Missense_Mutation_p.R651K|ATF7IP2_uc010uyq.1_RNA	p.R651K	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN			12	2179	+			651			Fibronectin type-III.		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.1952G>A	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	2.102	-0.405888	0.04832	.	.	ENSG00000166669	ENST00000543967;ENST00000396560;ENST00000356427	T;T;T	0.19938	2.11;2.11;2.11	5.78	0.687	0.18020	.	0.355310	0.27048	N	0.021185	T	0.06917	0.0176	N	0.05441	-0.05	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38112	-0.9676	10	0.02654	T	1	-15.0511	5.8502	0.18689	0.5794:0.1653:0.2553:0.0	.	651	Q5U623	MCAF2_HUMAN	K	195;651;651	ENSP00000446119:R195K;ENSP00000379808:R651K;ENSP00000348799:R651K	ENSP00000348799:R651K	R	+	2	0	ATF7IP2	10483510	0.757000	0.28394	0.020000	0.16555	0.780000	0.44128	1.061000	0.30542	0.126000	0.18424	-0.474000	0.04947	AGA		0.338	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1		NM_024997		7	47	0	0	0	0.004482	0	7	47		
SNX29	92017	broad.mit.edu	37	16	12145758	12145758	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:12145758C>T	ENST00000566228.1	+	8	872	c.803C>T	c.(802-804)tCa>tTa	p.S268L	SNX29_ENST00000323433.4_5'Flank|SNX29_ENST00000306030.3_5'Flank	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	268						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AACATAATCTCATTTGATGAT	0.433																																						uc002dbw.1		NaN								T					CIITA		PMBL|Hodgkin Lymphona|		0				ovary(1)	1						c.(802-804)TCA>TTA		RUN domain containing 2A							73.0	80.0	78.0					16																	12145758		2196	4300	6496	SO:0001583	missense	84127							g.chr16:12145758C>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.803C>T	16.37:g.12145758C>T	ENSP00000456480:p.Ser268Leu					SNX29_uc002dby.3_5'Flank	p.S268L	NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN			8	865	+			268					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.803C>T	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489868	0.64074	.	.	ENSG00000140660	ENST00000268271	.	.	.	5.78	5.78	0.91487	.	0.074900	0.56097	D	0.000039	T	0.76962	0.4061	M	0.75264	2.295	0.80722	D	1	.	.	.	.	.	.	T	0.75442	-0.3316	7	0.42905	T	0.14	-18.0346	18.5781	0.91162	0.0:1.0:0.0:0.0	.	.	.	.	L	268	.	ENSP00000268271:S268L	S	+	2	0	RUNDC2A	12053259	1.000000	0.71417	0.976000	0.42696	0.603000	0.37013	4.589000	0.61006	2.740000	0.93945	0.313000	0.20887	TCA		0.433	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1				8	45	0	0	0	0.010729	0	8	45		
DNAH3	55567	broad.mit.edu	37	16	20999081	20999081	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:20999081G>C	ENST00000261383.3	-	46	6815	c.6816C>G	c.(6814-6816)gtC>gtG	p.V2272V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2272	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCAGGTTAAAGACGTAATGTG	0.483																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(6814-6816)GTC>GTG		dynein, axonemal, heavy chain 3							122.0	104.0	110.0					16																	20999081		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20999081G>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6816C>G	16.37:g.20999081G>C						DNAH3_uc010vbd.1_5'Flank	p.V2272V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	46	6816	-			2272			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.6816C>G	CCDS10594.1																																																																																				0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		13	78	0	0	0	0.00245	0	13	78		
AQP8	343	broad.mit.edu	37	16	25232864	25232864	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:25232864C>G	ENST00000219660.5	+	3	472	c.347C>G	c.(346-348)tCa>tGa	p.S116*	AQP8_ENST00000566125.1_Nonsense_Mutation_p.S110*	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	116					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TACTGGGTCTCACAGCTGCTC	0.627																																						uc002doc.2		NaN																	0				upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3						c.(346-348)TCA>TGA		aquaporin 8							90.0	82.0	85.0					16																	25232864		2197	4300	6497	SO:0001587	stop_gained	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25232864C>G	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.347C>G	16.37:g.25232864C>G	ENSP00000219660:p.Ser116*						p.S116*	NM_001169	NP_001160	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	3	429	+			116			Helical; (Potential).		Q8IUU3|Q9UIA4	Nonsense_Mutation	SNP	ENST00000219660.5	37	c.347C>G	CCDS10626.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579443	0.86645	.	.	ENSG00000103375	ENST00000219660	.	.	.	5.63	3.61	0.41365	.	0.404206	0.29692	N	0.011451	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.4334	14.3825	0.66921	0.0:0.5371:0.4629:0.0	.	.	.	.	X	116	.	ENSP00000219660:S116X	S	+	2	0	AQP8	25140365	0.013000	0.17824	0.973000	0.42090	0.316000	0.28119	1.023000	0.30065	0.674000	0.31244	-0.176000	0.13171	TCA		0.627	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2		NM_001169		26	214	0	0	0	0.003755	0	26	214		
SRCAP	10847	broad.mit.edu	37	16	30715622	30715622	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:30715622G>A	ENST00000262518.4	+	4	677	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	SRCAP_ENST00000344771.4_Missense_Mutation_p.E98K|SRCAP_ENST00000395059.2_Missense_Mutation_p.E98K|RNU6-1043P_ENST00000410355.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	98					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CGAAATTGCAGAACAGGCCAA	0.493																																						uc002dze.1		NaN																	0				ovary(3)|skin(1)	4						c.(292-294)GAA>AAA		Snf2-related CBP activator protein							96.0	96.0	96.0					16																	30715622		1912	4121	6033	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30715622G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.292G>A	16.37:g.30715622G>A	ENSP00000262518:p.Glu98Lys					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_5'Flank	p.E98K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		4	677	+			98					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.292G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325344	0.41197	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.76839	-1.05;-1.05;-1.05	4.95	4.95	0.65309	.	0.000000	0.51477	D	0.000098	T	0.77343	0.4116	N	0.08118	0	0.49687	D	0.999814	D	0.63880	0.993	D	0.72625	0.978	T	0.82127	-0.0611	10	0.56958	D	0.05	-3.9328	17.1213	0.86702	0.0:0.0:1.0:0.0	.	98	Q6ZRS2	SRCAP_HUMAN	K	98	ENSP00000262518:E98K;ENSP00000378499:E98K;ENSP00000343042:E98K	ENSP00000262518:E98K	E	+	1	0	SRCAP	30623123	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	6.845000	0.75394	2.582000	0.87167	0.650000	0.86243	GAA		0.493	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		31	178	0	0	0	0.006999	0	31	178		
STX4	6810	broad.mit.edu	37	16	31049270	31049270	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:31049270C>T	ENST00000313843.3	+	6	717	c.402C>T	c.(400-402)ttC>ttT	p.F134F	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Silent_p.F132F	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	134					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CCCAGCAATTCGTGGAGCTCA	0.547																																						uc002eal.2		NaN																	0					0						c.(400-402)TTC>TTT		syntaxin 4							105.0	107.0	107.0					16																	31049270		2197	4300	6497	SO:0001819	synonymous_variant	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31049270C>T	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.402C>T	16.37:g.31049270C>T						STX4_uc002eak.2_Silent_p.F132F|STX4_uc002eam.2_Silent_p.F56F	p.F134F	NM_004604	NP_004595	Q12846	STX4_HUMAN			6	626	+			134			Cytoplasmic (Potential).|Potential.		A8MXY0|Q15525|Q6FHE8	Silent	SNP	ENST00000313843.3	37	c.402C>T	CCDS10700.1																																																																																				0.547	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3		NM_004604		10	106	0	0	0	0.010729	0	10	106		
ITGAM	3684	broad.mit.edu	37	16	31309204	31309204	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:31309204G>A	ENST00000287497.8	+	14	1711	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K	ITGAM_ENST00000544665.3_Missense_Mutation_p.E547K			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	546					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCCAGGAGAGGAGGACAACCG	0.617																																						uc002ebq.2		NaN																	0				kidney(1)	1						c.(1636-1638)GAG>AAG		integrin alpha M isoform 2 precursor							73.0	79.0	77.0					16																	31309204		2194	4299	6493	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31309204G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1636G>A	16.37:g.31309204G>A	ENSP00000287497:p.Glu546Lys					ITGAM_uc002ebr.2_Missense_Mutation_p.E547K|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron	p.E546K	NM_000632	NP_000623	P11215	ITAM_HUMAN			14	1734	+			546			FG-GAP 6.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.1636G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644140	0.47258	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.55588	0.51;0.51	3.76	-1.21	0.09524	.	.	.	.	.	T	0.45175	0.1329	L	0.55743	1.74	0.27148	N	0.961488	P;P	0.40731	0.728;0.728	B;B	0.36030	0.216;0.216	T	0.44329	-0.9335	9	0.56958	D	0.05	.	13.0189	0.58775	0.0:0.37:0.63:0.0	.	546;546	Q4VAK1;P11215	.;ITAM_HUMAN	K	547;546	ENSP00000441691:E547K;ENSP00000287497:E546K	ENSP00000287497:E546K	E	+	1	0	ITGAM	31216705	0.764000	0.28473	0.999000	0.59377	0.719000	0.41307	-0.305000	0.08188	0.020000	0.15106	-0.176000	0.13171	GAG		0.617	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1		NM_000632		19	158	0	0	0	0.008871	0	19	158		
ARMC5	79798	broad.mit.edu	37	16	31473868	31473868	+	Missense_Mutation	SNP	C	C	T	rs539440145		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:31473868C>T	ENST00000563544.1	+	4	1546	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	ARMC5_ENST00000538189.1_Missense_Mutation_p.R366C|ARMC5_ENST00000457010.2_Missense_Mutation_p.R334C|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000268314.4_Missense_Mutation_p.R334C|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Missense_Mutation_p.R429C			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	334										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCTCCGGCAGCGCCGGGATCC	0.647																																						uc002ecc.2		NaN																	0				pancreas(1)	1						c.(1000-1002)CGC>TGC		armadillo repeat containing 5 isoform a							36.0	40.0	39.0					16																	31473868		2043	4191	6234	SO:0001583	missense	79798						binding	g.chr16:31473868C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1000C>T	16.37:g.31473868C>T	ENSP00000456877:p.Arg334Cys					ARMC5_uc010vfn.1_Missense_Mutation_p.R429C|ARMC5_uc010vfo.1_Missense_Mutation_p.R366C|ARMC5_uc002eca.3_Missense_Mutation_p.R334C|ARMC5_uc010vfp.1_Intron|ARMC5_uc002ecb.2_Missense_Mutation_p.R334C	p.R334C	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			3	1529	+			334			ARM 5.		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.1000C>T	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	c	11.84	1.757842	0.31137	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	4.53	3.5	0.40072	Armadillo-like helical (1);Armadillo-type fold (1);	0.093126	0.44097	D	0.000498	T	0.37598	0.1009	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.994;0.994;0.989	T	0.10245	-1.0638	10	0.56958	D	0.05	-18.917	8.1953	0.31392	0.3079:0.6921:0.0:0.0	.	366;429;334;334	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	C	429;366;334;334	ENSP00000386125:R429C;ENSP00000443995:R366C;ENSP00000268314:R334C;ENSP00000399561:R334C	ENSP00000268314:R334C	R	+	1	0	ARMC5	31381369	0.978000	0.34361	0.989000	0.46669	0.039000	0.13416	1.507000	0.35758	2.064000	0.61679	0.457000	0.33378	CGC		0.647	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1		NM_024742		16	121	0	0	0	0.008871	0	16	121		
SLC5A2	6524	broad.mit.edu	37	16	31499002	31499002	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:31499002C>T	ENST00000330498.3	+	7	826	c.807C>T	c.(805-807)ccC>ccT	p.P269P	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	269					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TCCGGCACCCCGTGACCGGGG	0.667																																						uc002ecf.3		NaN																	0				ovary(1)	1						c.(805-807)CCC>CCT		solute carrier family 5 (sodium/glucose							30.0	31.0	31.0					16																	31499002		2197	4300	6497	SO:0001819	synonymous_variant	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31499002C>T		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.807C>T	16.37:g.31499002C>T						SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	p.P269P	NM_003041	NP_003032	P31639	SC5A2_HUMAN			7	826	+			269			Extracellular (Potential).		A2RRD2	Silent	SNP	ENST00000330498.3	37	c.807C>T	CCDS10714.1																																																																																				0.667	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2				17	80	0	0	0	0.010504	0	17	80		
ABCC12	94160	broad.mit.edu	37	16	48177916	48177916	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:48177916G>A	ENST00000311303.3	-	2	525	c.180C>T	c.(178-180)ctC>ctT	p.L60L	ABCC12_ENST00000416054.1_Silent_p.L60L|ABCC12_ENST00000448542.1_Silent_p.L60L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	60						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCACCGGCGTGAGCCAGGAAA	0.567																																						uc002efc.1		NaN																	0				ovary(2)|skin(1)	3						c.(178-180)CTC>CTT		ATP-binding cassette protein C12							109.0	93.0	98.0					16																	48177916		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48177916G>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.180C>T	16.37:g.48177916G>A						ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Silent_p.L60L|ABCC12_uc010vgj.1_RNA	p.L60L	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			2	526	-		all_cancers(37;0.0474)|all_lung(18;0.047)	60					Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.180C>T	CCDS10730.1																																																																																				0.567	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1		NM_033226		12	101	0	0	0	0.00245	0	12	101		
NOD2	64127	broad.mit.edu	37	16	50745519	50745519	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:50745519C>G	ENST00000300589.2	+	4	1802	c.1697C>G	c.(1696-1698)tCa>tGa	p.S566*	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	566	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TACGTGTTCTCAGCCCAGCAG	0.647																																						uc002egm.1		NaN																	0				ovary(3)|skin(1)	4						c.(1696-1698)TCA>TGA		nucleotide-binding oligomerization domain							41.0	36.0	38.0					16																	50745519		2198	4300	6498	SO:0001587	stop_gained	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745519C>G	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1697C>G	16.37:g.50745519C>G	ENSP00000300589:p.Ser566*					NOD2_uc010cbk.1_Nonsense_Mutation_p.S539*|NOD2_uc002egl.1_Nonsense_Mutation_p.S344*|NOD2_uc010cbl.1_Nonsense_Mutation_p.S344*|NOD2_uc010cbm.1_Nonsense_Mutation_p.S344*|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.S566*	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	1802	+		all_cancers(37;0.0156)	566			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Nonsense_Mutation	SNP	ENST00000300589.2	37	c.1697C>G	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	37	6.410454	0.97546	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	.	.	.	5.12	5.12	0.69794	.	0.130213	0.35495	N	0.003166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	14.1217	0.65192	0.0:1.0:0.0:0.0	.	.	.	.	X	539;566	.	ENSP00000300589:S566X	S	+	2	0	NOD2	49303020	0.471000	0.25862	0.986000	0.45419	0.653000	0.38743	4.464000	0.60134	2.399000	0.81585	0.556000	0.70494	TCA		0.647	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2		NM_022162		6	52	0	0	0	0.00308	0	6	52		
IRX5	10265	broad.mit.edu	37	16	54967531	54967531	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:54967531C>T	ENST00000394636.4	+	3	1535	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	IRX5_ENST00000320990.5_Missense_Mutation_p.R399W|IRX5_ENST00000560154.1_Missense_Mutation_p.R180W|IRX5_ENST00000558597.1_Missense_Mutation_p.R334W|CTD-3032H12.2_ENST00000560487.1_lincRNA			P78411	IRX5_HUMAN	iroquois homeobox 5	400					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGTGCTGTCCCGGCCTCTCTA	0.711																																						uc002ehv.2		NaN																	0					0						c.(1198-1200)CGG>TGG		iroquois homeobox protein 5							17.0	21.0	20.0					16																	54967531		2194	4278	6472	SO:0001583	missense	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967531C>T	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1198C>T	16.37:g.54967531C>T	ENSP00000378132:p.Arg400Trp					IRX5_uc002ehw.2_Missense_Mutation_p.R334W	p.R400W	NM_005853	NP_005844	P78411	IRX5_HUMAN			3	1198	+			400					H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	c.1198C>T	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709876	0.48517	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.52526	0.66;0.66	4.54	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	L	0.54323	1.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.64984	-0.6278	10	0.59425	D	0.04	-13.1504	13.7244	0.62750	0.1553:0.8447:0.0:0.0	.	400	P78411	IRX5_HUMAN	W	400;399	ENSP00000378132:R400W;ENSP00000316250:R399W	ENSP00000316250:R399W	R	+	1	2	IRX5	53525032	0.989000	0.36119	1.000000	0.80357	0.991000	0.79684	2.805000	0.47939	1.074000	0.40909	0.650000	0.86243	CGG		0.711	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2				9	39	0	0	0	0.006214	0	9	39		
GPR56	9289	broad.mit.edu	37	16	57695626	57695626	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:57695626C>G	ENST00000388812.4	+	13	2140	c.1700C>G	c.(1699-1701)tCc>tGc	p.S567C	GPR56_ENST00000540164.2_Missense_Mutation_p.S561C|GPR56_ENST00000379696.3_Missense_Mutation_p.S567C|GPR56_ENST00000544297.1_Missense_Mutation_p.S386C|GPR56_ENST00000379694.4_Missense_Mutation_p.S397C|GPR56_ENST00000388813.5_Missense_Mutation_p.S561C|GPR56_ENST00000562631.1_Missense_Mutation_p.S561C|GPR56_ENST00000568908.1_Missense_Mutation_p.S561C|GPR56_ENST00000567835.1_Missense_Mutation_p.S567C|GPR56_ENST00000562558.1_Missense_Mutation_p.S561C|GPR56_ENST00000568909.1_Missense_Mutation_p.S567C|GPR56_ENST00000456916.1_Missense_Mutation_p.S567C|GPR56_ENST00000538815.1_Missense_Mutation_p.S561C			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	567					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						ATCCGGGACTCCCTGGTCAGC	0.602																																						uc002emb.2		NaN																	0					0						c.(1699-1701)TCC>TGC		G protein-coupled receptor 56 isoform a							62.0	51.0	55.0					16																	57695626		2198	4300	6498	SO:0001583	missense	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57695626C>G	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1700C>G	16.37:g.57695626C>G	ENSP00000373464:p.Ser567Cys					GPR56_uc002ema.1_Missense_Mutation_p.S392C|GPR56_uc002emc.2_Missense_Mutation_p.S561C|GPR56_uc002emf.2_Missense_Mutation_p.S561C|GPR56_uc010vhs.1_Missense_Mutation_p.S567C|GPR56_uc002emd.2_Missense_Mutation_p.S561C|GPR56_uc002eme.2_Missense_Mutation_p.S561C|GPR56_uc010vht.1_Missense_Mutation_p.S566C|GPR56_uc002emg.3_Missense_Mutation_p.S561C|GPR56_uc010vhu.1_Missense_Mutation_p.S386C	p.S567C	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			14	1992	+			567			Extracellular (Potential).		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	c.1700C>G	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909967	0.72983	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	4.87	4.87	0.63330	GPCR, family 2-like (1);	0.104103	0.42821	D	0.000658	T	0.61274	0.2334	L	0.50333	1.59	0.37970	D	0.933248	D;D;D;D	0.76494	0.997;0.999;0.995;0.999	P;P;P;P	0.62491	0.843;0.903;0.818;0.903	T	0.67647	-0.5617	10	0.59425	D	0.04	.	17.0276	0.86452	0.0:1.0:0.0:0.0	.	386;566;561;567	F5H144;B4DR54;Q9Y653-2;Q9Y653	.;.;.;GPR56_HUMAN	C	561;567;561;567;561;386;397;567	ENSP00000373465:S561C;ENSP00000373464:S567C;ENSP00000444415:S561C;ENSP00000398034:S567C;ENSP00000444911:S561C;ENSP00000438006:S386C;ENSP00000369016:S397C;ENSP00000369018:S567C	ENSP00000369016:S397C	S	+	2	0	GPR56	56253127	0.655000	0.27376	0.906000	0.35671	0.960000	0.62799	1.894000	0.39768	2.258000	0.74832	0.491000	0.48974	TCC		0.602	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3				6	32	0	0	0	0.001168	0	6	32		
CDH11	1009	broad.mit.edu	37	16	64981694	64981694	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:64981694G>A	ENST00000268603.4	-	13	2818	c.2203C>T	c.(2203-2205)Cct>Tct	p.P735S	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.P609S	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	735					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCATAAGGAGGAGCCGTGGGG	0.567			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NaN		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(2203-2205)CCT>TCT		cadherin 11, type 2 preproprotein							102.0	97.0	99.0					16																	64981694		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64981694G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2203C>T	16.37:g.64981694G>A	ENSP00000268603:p.Pro735Ser	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.P609S	p.P735S	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	13	2637	-		Ovarian(137;0.0973)	735			Cytoplasmic (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.2203C>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415031	0.62511	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.80033	-1.33	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.92351	0.7573	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92865	0.6309	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	735	P55287	CAD11_HUMAN	S	735;718	ENSP00000268603:P735S	ENSP00000268603:P735S	P	-	1	0	CDH11	63539195	1.000000	0.71417	0.976000	0.42696	0.374000	0.29953	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CCT		0.567	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1		NM_033664		14	41	0	0	0	0.00245	0	14	41		
CDH11	1009	broad.mit.edu	37	16	65016069	65016069	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:65016069C>T	ENST00000268603.4	-	8	1750	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	CDH11_ENST00000394156.3_Missense_Mutation_p.E379K|CDH11_ENST00000566827.1_Missense_Mutation_p.E253K	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	379	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ATAGGGGGCTCATCAGCATCT	0.527			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NaN		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(1135-1137)GAG>AAG		cadherin 11, type 2 preproprotein							165.0	137.0	147.0					16																	65016069		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65016069C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1135G>A	16.37:g.65016069C>T	ENSP00000268603:p.Glu379Lys	TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.E379K|CDH11_uc010vin.1_Missense_Mutation_p.E253K|CDH11_uc002eok.1_RNA	p.E379K	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1569	-		Ovarian(137;0.0973)	379			Cadherin 3.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1135G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939764	0.92526	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.68479	-0.33;-0.33	5.76	5.76	0.90799	Cadherin (3);Cadherin-like (1);	0.044982	0.85682	D	0.000000	T	0.82148	0.4974	M	0.86097	2.795	0.80722	D	1	P;D	0.61080	0.884;0.989	P;P	0.58013	0.636;0.831	D	0.84343	0.0528	10	0.87932	D	0	.	19.312	0.94192	0.0:1.0:0.0:0.0	.	379;379	P55287-2;P55287	.;CAD11_HUMAN	K	379;379;362	ENSP00000268603:E379K;ENSP00000377711:E379K	ENSP00000268603:E379K	E	-	1	0	CDH11	63573570	1.000000	0.71417	0.995000	0.50966	0.542000	0.35054	7.370000	0.79589	2.882000	0.98803	0.655000	0.94253	GAG		0.527	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1		NM_033664		5	77	0	0	0	0.001984	0	5	77		
CDH16	1014	broad.mit.edu	37	16	66949265	66949265	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:66949265G>T	ENST00000299752.4	-	6	634	c.441C>A	c.(439-441)ttC>ttA	p.F147L	CDH16_ENST00000568632.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.F147L|CDH16_ENST00000565796.1_Missense_Mutation_p.F147L|CDH16_ENST00000570262.1_Missense_Mutation_p.F67L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	147	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AAGCCTCAAGGAAGAGGAAGG	0.582																																						uc002eql.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(439-441)TTC>TTA		cadherin 16 precursor							60.0	62.0	61.0					16																	66949265		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66949265G>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.441C>A	16.37:g.66949265G>T	ENSP00000299752:p.Phe147Leu					CDH16_uc010cdy.2_Missense_Mutation_p.F147L|CDH16_uc002eqm.2_Intron	p.F147L	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	6	514	-		Ovarian(137;0.0563)	147			Extracellular (Potential).|Cadherin 2.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.441C>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.754019	0.31046	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.48836	0.8;0.8	4.82	4.82	0.62117	Cadherin (4);Cadherin-like (1);	0.234224	0.35320	N	0.003289	T	0.39627	0.1085	L	0.31664	0.95	0.32144	N	0.585161	P;P	0.45428	0.628;0.858	B;P	0.45099	0.194;0.469	T	0.43653	-0.9378	10	0.22109	T	0.4	-17.7444	13.7655	0.62992	0.0:0.0:1.0:0.0	.	147;147	O75309-2;O75309	.;CAD16_HUMAN	L	147;147;111	ENSP00000377619:F147L;ENSP00000299752:F147L	ENSP00000299752:F147L	F	-	3	2	CDH16	65506766	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	0.861000	0.27885	2.382000	0.81193	0.563000	0.77884	TTC		0.582	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2		NM_004062		18	75	1	0	4.72057e-08	0.003954	4.96177e-08	18	75		
C16orf70	80262	broad.mit.edu	37	16	67183434	67183434	+	IGR	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:67183434G>C	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.L319V	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CACATGCCCAGAAAGACGTCG	0.687																																						uc002erf.2		NaN																	0					0						c.(955-957)CTG>GTG		UDP-GlcNAc:betaGal							19.0	27.0	24.0					16																	67183434		2115	4234	6349	SO:0001628	intergenic_variant	84752				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr16:67183434G>C	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183434G>C						uc002erg.1_5'UTR	p.L319V	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN			2	1276	-			319			Lumenal (Potential).		Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.955C>G	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	g	17.10	3.302723	0.60195	.	.	ENSG00000237172	ENST00000449549	T	0.36340	1.26	5.02	4.06	0.47325	.	.	.	.	.	T	0.23289	0.0563	N	0.15975	0.35	0.35688	D	0.81465	P	0.44946	0.846	P	0.47786	0.557	T	0.15607	-1.0431	9	0.02654	T	1	-7.2063	9.9203	0.41459	0.1691:0.0:0.8309:0.0	.	319	Q6UX72	B3GN9_HUMAN	V	319	ENSP00000400157:L319V	ENSP00000400157:L319V	L	-	1	2	B3GNT9	65740935	0.983000	0.35010	1.000000	0.80357	0.990000	0.78478	1.328000	0.33758	1.097000	0.41459	0.556000	0.70494	CTG		0.687	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2		NM_025187		5	12	0	0	0	0.00308	0	5	12		
C16orf70	80262	broad.mit.edu	37	16	67183755	67183755	+	IGR	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:67183755G>C	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.L212V	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GCCCAGGCTAGAAAGTGGATC	0.592																																						uc002erf.2		NaN																	0					0						c.(634-636)CTA>GTA		UDP-GlcNAc:betaGal							36.0	39.0	38.0					16																	67183755		2028	4184	6212	SO:0001628	intergenic_variant	84752				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr16:67183755G>C	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183755G>C						uc002erg.1_Missense_Mutation_p.R53T	p.L212V	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN			2	955	-			212			Lumenal (Potential).		Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.634C>G	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	g	22.8	4.334997	0.81801	.	.	ENSG00000237172	ENST00000449549	T	0.58358	0.34	4.74	4.74	0.60224	.	.	.	.	.	T	0.76723	0.4027	M	0.89287	3.02	0.45979	D	0.998792	D	0.89917	1.0	D	0.79108	0.992	T	0.82350	-0.0501	9	0.72032	D	0.01	-31.0235	16.3133	0.82905	0.0:0.0:1.0:0.0	.	212	Q6UX72	B3GN9_HUMAN	V	212	ENSP00000400157:L212V	ENSP00000400157:L212V	L	-	1	2	B3GNT9	65741256	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.594000	0.67557	2.188000	0.69820	0.556000	0.70494	CTA		0.592	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2		NM_025187		4	15	0	0	0	0.009096	0	4	15		
E2F4	1874	broad.mit.edu	37	16	67233112	67233112	+	IGR	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:67233112G>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000477898.1_5'Flank|ELMO3_ENST00000393997.2_Silent_p.P14P|ELMO3_ENST00000360833.1_Silent_p.P14P	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GCGGGACACCGAGGTCAGGTC	0.687																																						uc002esa.2		NaN																	0					0						c.(40-42)CCG>CCA		engulfment and cell motility 3							22.0	31.0	28.0					16																	67233112		2090	4207	6297	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67233112G>A	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233112G>A						ELMO3_uc002esb.2_Silent_p.P14P|ELMO3_uc002esc.2_5'Flank	p.P14P	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	1	85	+		Ovarian(137;0.0563)	Error:Variant_position_missing_in_Q96BJ8_after_alignment					A6NGR8|B5BU56|Q12991|Q15328	Silent	SNP	ENST00000379378.3	37	c.42G>A	CCDS32464.1																																																																																				0.687	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1		NM_001950		4	16	0	0	0	0.001168	0	4	16		
SLC12A4	6560	broad.mit.edu	37	16	67985768	67985768	+	Missense_Mutation	SNP	C	C	T	rs372093952		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:67985768C>T	ENST00000316341.3	-	8	1230	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	SLC12A4_ENST00000576616.1_Missense_Mutation_p.E364K|SLC12A4_ENST00000572037.1_Missense_Mutation_p.E316K|SLC12A4_ENST00000338335.3_Missense_Mutation_p.E364K|SLC12A4_ENST00000537830.2_Missense_Mutation_p.E358K|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000422611.2_Missense_Mutation_p.E366K|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E333K	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	364					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGGGATCTCGGTCACATTG	0.607																																						uc002euz.2		NaN																	0				ovary(1)	1						c.(1090-1092)GAG>AAG		solute carrier family 12, member 4 isoform a	Bumetanide(DB00887)|Potassium Chloride(DB00761)	C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4396		0,0,2198	85.0	55.0	65.0		1090,997,1072,1096,1090	4.1	1.0	16		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SLC12A4	NM_005072.4,NM_001145964.1,NM_001145963.1,NM_001145962.1,NM_001145961.1	56,56,56,56,56	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	364/1086,333/1055,358/1080,366/1088,364/1080	67985768	1,12995	2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67985768C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1090G>A	16.37:g.67985768C>T	ENSP00000318557:p.Glu364Lys					SLC12A4_uc010ceu.2_Missense_Mutation_p.E358K|SLC12A4_uc010vkh.1_Missense_Mutation_p.E333K|SLC12A4_uc010vki.1_Missense_Mutation_p.E364K|SLC12A4_uc010vkj.1_Missense_Mutation_p.E366K|SLC12A4_uc002eva.2_Missense_Mutation_p.E364K|SLC12A4_uc002evb.2_RNA	p.E364K	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	8	1231	-		Ovarian(137;0.192)	364			Helical; (Potential).		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.1090G>A	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628044	0.28978	0.0	1.16E-4	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	5.0	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.79907	0.4527	M	0.79123	2.44	0.80722	D	1	B;B;P;B;P;B	0.40681	0.092;0.343;0.727;0.003;0.473;0.343	B;B;B;B;B;B	0.36030	0.024;0.042;0.216;0.005;0.091;0.066	T	0.77368	-0.2614	10	0.11794	T	0.64	.	13.626	0.62165	0.0:0.9244:0.0:0.0756	.	366;364;333;358;364;364	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	K	366;333;358;364;364	ENSP00000395983:E366K;ENSP00000438334:E333K;ENSP00000445962:E358K;ENSP00000343374:E364K;ENSP00000318557:E364K	ENSP00000318557:E364K	E	-	1	0	SLC12A4	66543269	0.930000	0.31532	0.974000	0.42286	0.994000	0.84299	2.010000	0.40913	1.255000	0.44051	0.467000	0.42956	GAG		0.607	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4		NM_005072		6	32	0	0	0	0.001168	0	6	32		
COG4	25839	broad.mit.edu	37	16	70517820	70517820	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:70517820G>A	ENST00000323786.5	-	14	1784	c.1763C>T	c.(1762-1764)gCc>gTc	p.A588V		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	584				S -> G (in Ref. 2; BAB14286/BAG59950). {ECO:0000305}.	Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GTCAAACTTGGCCTGGGCCTG	0.582																																						uc002ezc.2		NaN																	0					0						c.(1762-1764)GCC>GTC		component of oligomeric golgi complex 4							90.0	80.0	83.0					16																	70517820		2198	4300	6498	SO:0001583	missense	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70517820G>A	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1763C>T	16.37:g.70517820G>A	ENSP00000315775:p.Ala588Val					COG4_uc002eza.2_5'UTR|COG4_uc002ezb.2_Missense_Mutation_p.A44V|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.A567V|COG4_uc002eze.2_Missense_Mutation_p.A282V	p.A588V	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			14	1774	-		Ovarian(137;0.0694)	584					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.1763C>T	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453767	0.63290	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000526700;ENST00000539961	T	0.46451	0.87	5.63	5.63	0.86233	.	0.046346	0.85682	D	0.000000	T	0.38772	0.1053	L	0.54323	1.7	0.80722	D	1	P;B;P;B	0.40282	0.711;0.394;0.612;0.206	B;B;B;B	0.28011	0.067;0.079;0.039;0.085	T	0.43988	-0.9357	10	0.62326	D	0.03	-16.6884	19.668	0.95900	0.0:0.0:1.0:0.0	.	494;562;584;44	Q8N8L9;Q6PIW8;Q9H9E3;E9PQK0	.;.;COG4_HUMAN;.	V	588;563;44;246	ENSP00000315775:A588V	ENSP00000315775:A588V	A	-	2	0	COG4	69075321	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.372000	0.66156	2.655000	0.90218	0.650000	0.86243	GCC		0.582	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3				21	120	0	0	0	0.002299	0	21	120		
COG4	25839	broad.mit.edu	37	16	70551628	70551628	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:70551628C>T	ENST00000323786.5	-	3	291	c.270G>A	c.(268-270)ctG>ctA	p.L90L	COG4_ENST00000393612.4_Silent_p.L86L|COG4_ENST00000564653.1_Silent_p.L90L	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	86	Interacts with STX5.				Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CTCCCTCAATCAGCTGCAGAT	0.453																																						uc002ezc.2		NaN																	0					0						c.(268-270)CTG>CTA		component of oligomeric golgi complex 4							125.0	108.0	114.0					16																	70551628		2198	4300	6498	SO:0001819	synonymous_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70551628C>T	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.270G>A	16.37:g.70551628C>T						COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.L90L|COG4_uc002eze.2_5'UTR	p.L90L	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			3	281	-		Ovarian(137;0.0694)	86			Interacts with STX5.		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP	ENST00000323786.5	37	c.270G>A	CCDS10892.2																																																																																				0.453	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3				20	112	0	0	0	0.003954	0	20	112		
HYDIN	54768	broad.mit.edu	37	16	71220736	71220736	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:71220736G>C	ENST00000393567.2	-	2	213	c.63C>G	c.(61-63)ttC>ttG	p.F21L	HYDIN_ENST00000538248.1_Missense_Mutation_p.F48L|HYDIN_ENST00000541601.1_Missense_Mutation_p.F38L|HYDIN_ENST00000288168.10_Missense_Mutation_p.F38L|HYDIN_ENST00000448089.2_Missense_Mutation_p.F21L|HYDIN_ENST00000393550.2_Missense_Mutation_p.F21L|HYDIN_ENST00000448691.1_Missense_Mutation_p.F21L|HYDIN_ENST00000321489.5_Missense_Mutation_p.F21L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	21					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAAATCCTTTGAACATATTGA	0.383																																						uc002ezr.2		NaN																	0				ovary(1)|skin(1)	2						c.(61-63)TTC>TTG		hydrocephalus inducing isoform a							160.0	152.0	155.0					16																	71220736		2198	4300	6498	SO:0001583	missense	54768							g.chr16:71220736G>C	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.63C>G	16.37:g.71220736G>C	ENSP00000377197:p.Phe21Leu					HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Missense_Mutation_p.F21L|HYDIN_uc010vmc.1_Missense_Mutation_p.F38L|HYDIN_uc010vmd.1_Missense_Mutation_p.F48L|HYDIN_uc002ezw.3_Missense_Mutation_p.F38L	p.F21L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			2	191	-		Ovarian(137;0.0654)	21					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.63C>G	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.373566	0.01214	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550;ENST00000539973;ENST00000545267	T;T;T;T;T;T;T;T	0.12465	5.75;3.93;3.92;3.92;3.92;3.93;3.56;2.68	5.55	-8.27	0.01017	.	1.214570	0.06775	N	0.784297	T	0.03011	0.0089	N	0.00823	-1.155	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.49153	-0.8969	10	0.09843	T	0.71	.	10.3767	0.44085	0.1603:0.418:0.4217:0.0	.	48;38;38;21;21	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	L	21;21;21;21;21;48;38;38;21;61;61	ENSP00000377197:F21L;ENSP00000398544:F21L;ENSP00000394826:F21L;ENSP00000314736:F21L;ENSP00000444970:F48L;ENSP00000437341:F38L;ENSP00000288168:F38L;ENSP00000377181:F21L	ENSP00000288168:F38L	F	-	3	2	HYDIN	69778237	0.033000	0.19621	0.001000	0.08648	0.166000	0.22503	-1.115000	0.03289	-1.053000	0.03218	-0.859000	0.03014	TTC		0.383	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3				4	33	0	0	0	0.000602	0	4	33		
CHST4	10164	broad.mit.edu	37	16	71571634	71571634	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:71571634G>A	ENST00000338482.5	+	3	1397	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	ZNF19_ENST00000568446.1_Intron|RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000572450.1_Missense_Mutation_p.D352N|CHST4_ENST00000539698.3_Missense_Mutation_p.D352N			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	352					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.D352N(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AGCCTGTGGCGATGCCATGAA	0.512											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fan.2		NaN																	1	Substitution - Missense(1)		prostate(1)		0						c.(1054-1056)GAT>AAT		carbohydrate (N-acetylglucosamine 6-O)							60.0	58.0	59.0					16																	71571634		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71571634G>A	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.1054G>A	16.37:g.71571634G>A	ENSP00000341206:p.Asp352Asn		OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1131	CHST4_uc002fao.2_Missense_Mutation_p.D352N	p.D352N	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN			2	1235	+			352			Lumenal (Potential).		Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.1054G>A	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	G	4.883	0.164140	0.09287	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.82081	-1.57;-1.57	6.17	4.14	0.48551	Sulfotransferase domain (1);	0.436915	0.26450	N	0.024312	T	0.73489	0.3593	L	0.41824	1.3	0.21861	N	0.999505	B	0.25312	0.123	B	0.26969	0.075	T	0.57283	-0.7838	10	0.19147	T	0.46	-19.4061	8.8072	0.34945	0.0844:0.189:0.7266:0.0	.	352	Q8NCG5	CHST4_HUMAN	N	352	ENSP00000341206:D352N;ENSP00000441204:D352N	ENSP00000341206:D352N	D	+	1	0	CHST4	70129135	1.000000	0.71417	0.003000	0.11579	0.062000	0.15995	5.677000	0.68142	0.813000	0.34350	0.655000	0.94253	GAT		0.512	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4		NM_005769		5	47	0	0	0	0.000602	0	5	47		
KARS	3735	broad.mit.edu	37	16	75681495	75681495	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:75681495C>T	ENST00000302445.3	-	1	82	c.43G>A	c.(43-45)Gag>Aag	p.E15K	KARS_ENST00000319410.5_5'UTR|KARS_ENST00000568378.1_5'UTR|TERF2IP_ENST00000300086.4_5'Flank	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	15					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	AGTTTCGGCTCGCTGCCATCC	0.587																																						uc002feq.2		NaN																	0				ovary(2)	2						c.(43-45)GAG>AAG		lysyl-tRNA synthetase isoform 2	L-Lysine(DB00123)						36.0	35.0	35.0					16																	75681495		2198	4299	6497	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75681495C>T	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.43G>A	16.37:g.75681495C>T	ENSP00000303043:p.Glu15Lys					KARS_uc002fer.2_5'UTR|KARS_uc002fes.2_5'UTR|KARS_uc010cha.1_Intron|TERF2IP_uc002fet.1_5'Flank	p.E15K	NM_005548	NP_005539	Q15046	SYK_HUMAN			1	91	-			15	Missing: Loss of nuclear localization, but no effect on packaging into HIV-1.				A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.43G>A	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182151	0.78677	.	.	ENSG00000065427	ENST00000302445	T	0.76448	-1.02	5.68	2.45	0.29901	.	.	.	.	.	T	0.72622	0.3483	M	0.65498	2.005	0.25137	N	0.990525	B	0.24368	0.102	B	0.12156	0.007	T	0.66240	-0.5973	9	0.62326	D	0.03	.	8.0948	0.30822	0.0:0.7194:0.1309:0.1497	.	15	Q15046	SYK_HUMAN	K	15	ENSP00000303043:E15K	ENSP00000303043:E15K	E	-	1	0	KARS	74238996	0.711000	0.27906	0.579000	0.28588	0.023000	0.10783	1.636000	0.37144	1.409000	0.46915	-0.142000	0.14014	GAG		0.587	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1		NM_005548		7	38	0	0	0	0.004482	0	7	38		
ADAMTS18	170692	broad.mit.edu	37	16	77393224	77393224	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:77393224G>A	ENST00000282849.5	-	8	1731	c.1313C>T	c.(1312-1314)tCa>tTa	p.S438L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	438	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTGTGCCCTGACTCATGAGC	0.463																																						uc002ffc.3		NaN																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(1312-1314)TCA>TTA		ADAM metallopeptidase with thrombospondin type 1							140.0	89.0	106.0					16																	77393224		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77393224G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1313C>T	16.37:g.77393224G>A	ENSP00000282849:p.Ser438Leu					ADAMTS18_uc010chc.1_Missense_Mutation_p.S26L|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S134L|ADAMTS18_uc010vni.1_RNA	p.S438L	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			8	1732	-			438			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1313C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489741	0.64074	.	.	ENSG00000140873	ENST00000282849	T	0.40756	1.02	4.76	4.76	0.60689	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.19087	0.0458	N	0.00347	-1.61	0.80722	D	1	B;P	0.42248	0.066;0.774	B;P	0.49953	0.051;0.627	T	0.39722	-0.9600	10	0.02654	T	1	.	17.2929	0.87162	0.0:0.0:1.0:0.0	.	438;438	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	L	438	ENSP00000282849:S438L	ENSP00000282849:S438L	S	-	2	0	ADAMTS18	75950725	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.625000	0.98406	2.641000	0.89580	0.563000	0.77884	TCA		0.463	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1				4	22	0	0	0	0.000602	0	4	22		
ZC3H18	124245	broad.mit.edu	37	16	88690429	88690429	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:88690429C>T	ENST00000301011.5	+	11	2057	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	ZC3H18_ENST00000452588.2_Silent_p.I643I	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	619	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GACCTTCCATCAGAACCAAGG	0.672																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2		NaN																	0				skin(1)	1						c.(1855-1857)ATC>ATT		zinc finger CCCH-type containing 18							90.0	92.0	91.0					16																	88690429		2198	4300	6498	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88690429C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1857C>T	16.37:g.88690429C>T						ZC3H18_uc010voz.1_Silent_p.I643I|ZC3H18_uc010chw.2_RNA	p.I619I	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	11	2057	+			619			Ser-rich.		Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.1857C>T	CCDS10967.1																																																																																				0.672	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1		NM_144604		23	155	0	0	0	0.009535	0	23	155		
TUBB3	10381	broad.mit.edu	37	16	90002120	90002120	+	Missense_Mutation	SNP	G	G	A	rs386794162		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:90002120G>A	ENST00000315491.7	+	4	1384	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	TUBB3_ENST00000554444.1_Missense_Mutation_p.E349K|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000304984.5_Missense_Mutation_p.E349K|TUBB3_ENST00000556922.1_Missense_Mutation_p.E768K	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	421					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	CCTGGTGTCCGAGTACCAGCA	0.632																																						uc002fph.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(1261-1263)GAG>AAG		tubulin, beta, 4							70.0	69.0	69.0					16																	90002120		2198	4299	6497	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90002120G>A	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.1261G>A	16.37:g.90002120G>A	ENSP00000320295:p.Glu421Lys					TUBB3_uc002fpf.2_Missense_Mutation_p.E768K|TUBB3_uc010ciz.1_Missense_Mutation_p.E349K|TUBB3_uc002fpg.1_Missense_Mutation_p.E275K|TUBB3_uc002fpi.1_Missense_Mutation_p.E349K|TUBB3_uc002fpj.1_Missense_Mutation_p.E349K|TUBB3_uc010cjb.1_Missense_Mutation_p.E275K|TUBB3_uc002fpk.1_Missense_Mutation_p.E275K	p.E421K	NM_006086	NP_006077	Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	4	1326	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	421					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.1261G>A	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997312	0.74818	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000554444;ENST00000315491	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	4.66	4.66	0.58398	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.56097	D	0.000022	D	0.89884	0.6844	H	0.94423	3.535	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	D	0.93019	0.6438	9	.	.	.	.	17.5117	0.87762	0.0:0.0:1.0:0.0	.	421;421	Q13509;B2RBD5	TBB3_HUMAN;.	K	768;421;349;349;421	ENSP00000451560:E768K;ENSP00000302777:E349K;ENSP00000451617:E349K;ENSP00000320295:E421K	.	E	+	1	0	RP11-566K11.2;TUBB3	88529621	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.585000	0.98223	2.313000	0.78055	0.561000	0.74099	GAG		0.632	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1		NM_006086		19	106	0	0	0	0.003954	0	19	106		
OR1E2	8388	broad.mit.edu	37	17	3337109	3337109	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:3337109G>A	ENST00000248384.1	-	1	26	c.27C>T	c.(25-27)atC>atT	p.I9I		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	9					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)	p.I9I(1)		endometrium(3)|large_intestine(3)|lung(3)	9						GGAAGTCTGAGATGCTGGTTT	0.458																																						uc010vre.1		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	large_intestine(1)	1						c.(25-27)ATC>ATT		olfactory receptor, family 1, subfamily E,							48.0	52.0	50.0					17																	3337109		2202	4297	6499	SO:0001819	synonymous_variant	8388				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3337109G>A	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.27C>T	17.37:g.3337109G>A							p.I9I	NM_003554	NP_003545	P47887	OR1E2_HUMAN			1	27	-			9			Extracellular (Potential).		O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Silent	SNP	ENST00000248384.1	37	c.27C>T	CCDS11026.1																																																																																				0.458	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1				9	59	0	0	0	0.002299	0	9	59		
P2RX5	5026	broad.mit.edu	37	17	3593966	3593966	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:3593966G>A	ENST00000225328.5	-	4	767	c.369C>T	c.(367-369)ggC>ggT	p.G123G	P2RX5-TAX1BP3_ENST00000550383.1_Silent_p.G123G|P2RX5_ENST00000345901.3_Silent_p.G99G|P2RX5_ENST00000552276.1_Silent_p.G123G|P2RX5_ENST00000547178.1_Silent_p.G123G|P2RX5_ENST00000435558.1_Silent_p.G123G|P2RX5_ENST00000550772.1_5'Flank|P2RX5_ENST00000551178.1_Silent_p.G99G|P2RX5_ENST00000552050.1_Silent_p.G63G	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	123					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CATCAGGAATGCCTTCATTCT	0.632																																						uc002fwi.2		NaN																	0					0						c.(367-369)GGC>GGT		purinergic receptor P2X5 isoform A							42.0	40.0	40.0					17																	3593966		2203	4300	6503	SO:0001819	synonymous_variant	5026				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3593966G>A	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.369C>T	17.37:g.3593966G>A						P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Silent_p.G123G|P2RX5_uc010vrx.1_Silent_p.G63G|P2RX5_uc002fwj.2_Silent_p.G99G|P2RX5_uc002fwk.2_Silent_p.G123G|P2RX5_uc002fwl.2_Silent_p.G99G|P2RX5_uc002fwm.1_Silent_p.G123G	p.G123G	NM_002561	NP_002552	Q93086	P2RX5_HUMAN			4	653	-			123			Extracellular (Potential).		G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Silent	SNP	ENST00000225328.5	37	c.369C>T	CCDS11034.1	.	.	.	.	.	.	.	.	.	.	G	7.221	0.597398	0.13875	.	.	ENSG00000083454	ENST00000552723	.	.	.	4.95	-1.43	0.08884	.	.	.	.	.	T	0.20292	0.0488	.	.	.	0.19300	N	0.999978	.	.	.	.	.	.	T	0.26121	-1.0112	4	.	.	.	-16.3307	2.0019	0.03469	0.145:0.2336:0.383:0.2384	.	.	.	.	Y	71	.	.	H	-	1	0	P2RX5	3540715	0.020000	0.18652	0.005000	0.12908	0.184000	0.23303	0.182000	0.16900	-0.046000	0.13446	0.655000	0.94253	CAT		0.632	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3		NM_002561, NM_175080, NM_175081		12	74	0	0	0	0.003163	0	12	74		
ZZEF1	23140	broad.mit.edu	37	17	3936223	3936223	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:3936223C>T	ENST00000381638.2	-	41	6782	c.6658G>A	c.(6658-6660)Gat>Aat	p.D2220N		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2220							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCAATGACATCACGCCACAGT	0.597																																						uc002fxe.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(6658-6660)GAT>AAT		zinc finger, ZZ type with EF hand domain 1							112.0	71.0	85.0					17																	3936223		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3936223C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6658G>A	17.37:g.3936223C>T	ENSP00000371051:p.Asp2220Asn					ZZEF1_uc002fxh.2_Missense_Mutation_p.D534N|ZZEF1_uc002fxi.2_Missense_Mutation_p.D455N	p.D2220N	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			41	6722	-			2220					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.6658G>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039687	0.55003	.	.	ENSG00000074755	ENST00000381638	T	0.20200	2.09	5.69	4.71	0.59529	.	0.516357	0.22654	N	0.057292	T	0.12603	0.0306	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.07654	-1.0761	10	0.49607	T	0.09	-14.173	7.006	0.24836	0.0:0.6737:0.1332:0.1931	.	2220	O43149	ZZEF1_HUMAN	N	2220	ENSP00000371051:D2220N	ENSP00000371051:D2220N	D	-	1	0	ZZEF1	3882972	0.001000	0.12720	0.987000	0.45799	0.995000	0.86356	0.947000	0.29082	2.683000	0.91414	0.591000	0.81541	GAT		0.597	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		8	35	0	0	0	0.00308	0	8	35		
TEKT1	83659	broad.mit.edu	37	17	6719158	6719158	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:6719158C>T	ENST00000338694.2	-	4	609	c.480G>A	c.(478-480)caG>caA	p.Q160Q	TEKT1_ENST00000535086.1_Silent_p.Q14Q	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	160						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CATACCGAATCTGCTCGGAAG	0.532																																						uc002gdt.2		NaN																	0				ovary(1)|skin(1)	2						c.(478-480)CAG>CAA		tektin 1							129.0	97.0	108.0					17																	6719158		2203	4300	6503	SO:0001819	synonymous_variant	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6719158C>T		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.480G>A	17.37:g.6719158C>T						TEKT1_uc010vth.1_Silent_p.Q14Q	p.Q160Q	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN			4	590	-		Myeloproliferative disorder(207;0.0255)	160			Potential.		D3DTM7	Silent	SNP	ENST00000338694.2	37	c.480G>A	CCDS11083.1																																																																																				0.532	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2		NM_053285		4	52	0	0	0	0.000602	0	4	52		
TMEM88	92162	broad.mit.edu	37	17	7758849	7758849	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:7758849C>T	ENST00000301599.6	+	2	307	c.297C>T	c.(295-297)ctC>ctT	p.L99L	LSMD1_ENST00000570555.1_5'Flank|CYB5D1_ENST00000332439.4_5'Flank|CYB5D1_ENST00000570446.1_5'Flank|CYB5D1_ENST00000571846.1_5'Flank|TMEM88_ENST00000574668.1_Intron	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	99					multicellular organismal development (GO:0007275)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				TCCTGCTCCTCGTGCCGCTGC	0.682																																						uc002giy.2		NaN																	0					0						c.(295-297)CTC>CTT		transmembrane protein 88							47.0	46.0	46.0					17																	7758849		2202	4297	6499	SO:0001819	synonymous_variant	92162					integral to membrane		g.chr17:7758849C>T	BC057812	CCDS11121.1	17p13.1	2005-12-13				ENSG00000167874			32371	protein-coding gene	gene with protein product							Standard	NM_203411		Approved	MGC71744, FLJ20025	uc002giy.3	Q6PEY1		ENST00000301599.6:c.297C>T	17.37:g.7758849C>T						CYB5D1_uc010cnn.1_5'Flank|CYB5D1_uc002gjb.3_5'Flank	p.L99L	NM_203411	NP_981956	Q6PEY1	TMM88_HUMAN			2	306	+		all_cancers(10;0.00528)|Prostate(122;0.202)	99			Helical; (Potential).			Silent	SNP	ENST00000301599.6	37	c.297C>T	CCDS11121.1																																																																																				0.682	TMEM88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440252.1		NM_203411		25	136	0	0	0	0.00632	0	25	136		
GUCY2D	3000	broad.mit.edu	37	17	7910802	7910802	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:7910802G>T	ENST00000254854.4	+	6	1672	c.1522G>T	c.(1522-1524)Gac>Tac	p.D508Y		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	508					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CCTGACCGTGGACGACATCAC	0.562																																						uc002gjt.2		NaN																	0				skin(1)	1						c.(1522-1524)GAC>TAC		guanylate cyclase 2D, membrane (retina-specific)							119.0	112.0	114.0					17																	7910802		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7910802G>T	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1522G>T	17.37:g.7910802G>T	ENSP00000254854:p.Asp508Tyr						p.D508Y	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			6	1596	+		Prostate(122;0.157)	508			Cytoplasmic (Potential).		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.1522G>T	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612525	0.46631	.	.	ENSG00000132518	ENST00000254854	D	0.83506	-1.73	5.52	2.44	0.29823	.	0.741369	0.12003	N	0.508676	D	0.82715	0.5097	M	0.66939	2.045	0.29056	N	0.884225	P	0.45715	0.865	P	0.45946	0.498	T	0.75088	-0.3441	10	0.72032	D	0.01	.	8.2699	0.31838	0.1457:0.1291:0.7253:0.0	.	508	Q02846	GUC2D_HUMAN	Y	508	ENSP00000254854:D508Y	ENSP00000254854:D508Y	D	+	1	0	GUCY2D	7851527	1.000000	0.71417	0.017000	0.16124	0.364000	0.29643	3.463000	0.53050	0.295000	0.22570	-0.224000	0.12420	GAC		0.562	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2				38	189	1	0	1.19451e-25	0.00361	1.29115e-25	38	189		
MYH2	4620	broad.mit.edu	37	17	10441042	10441042	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:10441042G>C	ENST00000245503.5	-	15	1911	c.1527C>G	c.(1525-1527)atC>atG	p.I509M	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.I509M|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.I509M	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	509	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACGTCCACTCGATGCCTTCCT	0.493																																						uc010coi.2		NaN																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(1525-1527)ATC>ATG		myosin heavy chain IIa							214.0	179.0	191.0					17																	10441042		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10441042G>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1527C>G	17.37:g.10441042G>C	ENSP00000245503:p.Ile509Met					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.I509M|MYH2_uc010coj.2_Missense_Mutation_p.I509M	p.I509M	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			15	1655	-			509			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1527C>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503599	0.64298	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.80304	-1.36;-1.36;-1.36	5.51	3.48	0.39840	Myosin head, motor domain (2);	0.000000	0.39759	U	0.001265	D	0.93032	0.7782	H	0.98849	4.35	0.41865	D	0.990244	D;D	0.67145	0.996;0.964	D;D	0.91635	0.999;0.99	D	0.93824	0.7121	10	0.87932	D	0	.	10.1265	0.42652	0.226:0.0:0.774:0.0	.	509;509	Q567P6;Q9UKX2	.;MYH2_HUMAN	M	509	ENSP00000433944:I509M;ENSP00000245503:I509M;ENSP00000380367:I509M	ENSP00000245503:I509M	I	-	3	3	MYH2	10381767	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	0.407000	0.21049	1.324000	0.45282	0.655000	0.94253	ATC		0.493	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3		NM_017534		17	199	0	0	0	0.012319	0	17	199		
ADPRM	56985	broad.mit.edu	37	17	10608412	10608412	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:10608412G>A	ENST00000379774.4	+	2	260	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	ADPRM_ENST00000609540.1_Missense_Mutation_p.E57K	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	57							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										GGGTGCCATTGAAGACTGGAA	0.428																																						uc002gmt.2		NaN																	0					0						c.(169-171)GAA>AAA		ADP-ribose/CDP-alcohol pyrophosphatase							177.0	167.0	171.0					17																	10608412		2203	4300	6503	SO:0001583	missense	56985						ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding	g.chr17:10608412G>A	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.169G>A	17.37:g.10608412G>A	ENSP00000369099:p.Glu57Lys					C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Missense_Mutation_p.E57K	p.E57K	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN			2	244	+			57					A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	37	c.169G>A	CCDS11159.2	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821687	0.32237	.	.	ENSG00000170222	ENST00000379774	D	0.94687	-3.49	5.52	4.53	0.55603	Metallophosphoesterase domain (1);	0.556296	0.20008	N	0.101196	D	0.90065	0.6897	L	0.33753	1.03	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	D	0.85683	0.1302	10	0.15952	T	0.53	-6.9396	15.4677	0.75416	0.0:0.2617:0.7383:0.0	.	57	Q3LIE5	ADPRM_HUMAN	K	57	ENSP00000369099:E57K	ENSP00000369099:E57K	E	+	1	0	C17orf48	10549137	0.241000	0.23857	0.979000	0.43373	0.941000	0.58515	1.378000	0.34328	1.527000	0.49086	0.563000	0.77884	GAA		0.428	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2		NM_020233		13	75	0	0	0	0.001368	0	13	75		
PMP22	5376	broad.mit.edu	37	17	15162452	15162452	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:15162452G>A	ENST00000395938.2	-	3	331	c.137C>T	c.(136-138)tCc>tTc	p.S46F	RP11-849N15.1_ENST00000579159.1_RNA|PMP22_ENST00000426385.3_Missense_Mutation_p.S46F|PMP22_ENST00000494511.1_Intron|PMP22_ENST00000312280.3_Missense_Mutation_p.S46F|PMP22_ENST00000395936.1_Missense_Mutation_p.S46F	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	46					cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		ATTTCCTGAGGAAGAGGTGCT	0.507																																						uc002goj.2		NaN																	0					0						c.(136-138)TCC>TTC		peripheral myelin protein 22							220.0	167.0	185.0					17																	15162452		2203	4300	6503	SO:0001583	missense	5376				peripheral nervous system development|synaptic transmission	integral to membrane		g.chr17:15162452G>A	D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.137C>T	17.37:g.15162452G>A	ENSP00000379269:p.Ser46Phe					PMP22_uc002gok.2_Missense_Mutation_p.S46F|PMP22_uc002gol.2_Missense_Mutation_p.S46F	p.S46F	NM_153322	NP_696997	Q01453	PMP22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)	2	186	-			46					Q8WV01	Missense_Mutation	SNP	ENST00000395938.2	37	c.137C>T	CCDS11168.1	.	.	.	.	.	.	.	.	.	.	G	9.764	1.170999	0.21621	.	.	ENSG00000109099	ENST00000395938;ENST00000312280;ENST00000426385;ENST00000395936	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	4.49	1.21	0.21127	.	1.222120	0.05607	N	0.577396	D	0.86703	0.5996	L	0.47716	1.5	0.09310	N	1	B	0.15473	0.013	B	0.24974	0.057	T	0.72827	-0.4175	10	0.72032	D	0.01	-7.6698	3.0011	0.06014	0.0996:0.178:0.5387:0.1837	.	46	Q01453	PMP22_HUMAN	F	46	ENSP00000379269:S46F;ENSP00000308937:S46F;ENSP00000409824:S46F;ENSP00000379268:S46F	ENSP00000308937:S46F	S	-	2	0	PMP22	15103177	0.000000	0.05858	0.000000	0.03702	0.398000	0.30690	0.164000	0.16542	0.197000	0.20387	0.563000	0.77884	TCC		0.507	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130378.1		NM_000304		8	75	0	0	0	0.001368	0	8	75		
ZSWIM7	125150	broad.mit.edu	37	17	15902870	15902870	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:15902870C>G	ENST00000399277.1	-	1	136	c.39G>C	c.(37-39)ctG>ctC	p.L13L	ZSWIM7_ENST00000486655.1_5'UTR|TTC19_ENST00000486880.2_Nonsense_Mutation_p.S24*|ZSWIM7_ENST00000472495.1_Silent_p.L13L|ZSWIM7_ENST00000399280.2_Intron|TTC19_ENST00000261647.5_5'UTR	NM_001042697.1|NM_001042698.1	NP_001036162.1|NP_001036163.1	Q19AV6	ZSWM7_HUMAN	zinc finger, SWIM-type containing 7	13					double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	zinc ion binding (GO:0008270)			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)		CCATCTCGCTCAGGAGCTCCT	0.746																																						uc002gph.1		NaN																	0				skin(1)	1						c.(70-72)TCA>TGA		tetratricopeptide repeat domain 19							10.0	8.0	9.0					17																	15902870		2065	4109	6174	SO:0001819	synonymous_variant	54902				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding	g.chr17:15902870C>G	AK093384	CCDS42266.1	17p11.2	2014-02-12			ENSG00000214941	ENSG00000214941		"""Zinc fingers, SWIM-type"""	26993	protein-coding gene	gene with protein product	"""SWIM domain containing Srs2 interacting protein 1"""	614535				16710300	Standard	NM_001042698		Approved	SWS1	uc002gpf.3	Q19AV6	OTTHUMG00000059308	ENST00000399277.1:c.39G>C	17.37:g.15902870C>G						ZSWIM7_uc002gpe.2_Silent_p.L13L|ZSWIM7_uc002gpf.2_Silent_p.L13L|ZSWIM7_uc002gpg.2_RNA|TTC19_uc010cox.1_RNA	p.S24*	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	1	89	+			Error:Variant_position_missing_in_Q6DKK2_after_alignment						Nonsense_Mutation	SNP	ENST00000399277.1	37	c.71C>G	CCDS42266.1	.	.	.	.	.	.	.	.	.	.	C	37	6.618239	0.97709	.	.	ENSG00000011295	ENST00000555605	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.3554	0.60625	0.0:1.0:0.0:0.0	.	.	.	.	X	24	.	ENSP00000261647:S24X	S	+	2	0	TTC19	15843595	0.986000	0.35501	1.000000	0.80357	0.976000	0.68499	1.393000	0.34497	2.613000	0.88420	0.514000	0.50259	TCA		0.746	ZSWIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131736.1		NM_001042697		4	21	0	0	0	0.001984	0	4	21		
NCOR1	9611	broad.mit.edu	37	17	16049769	16049769	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:16049769C>G	ENST00000268712.3	-	10	1260	c.1003G>C	c.(1003-1005)Gaa>Caa	p.E335Q	NCOR1_ENST00000395848.1_Missense_Mutation_p.E226Q|NCOR1_ENST00000395851.1_Missense_Mutation_p.E335Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	335	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTTTTGCTTTCTTTAGCTTTC	0.368																																						uc002gpo.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(1003-1005)GAA>CAA		nuclear receptor co-repressor 1							163.0	152.0	155.0					17																	16049769		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16049769C>G	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1003G>C	17.37:g.16049769C>G	ENSP00000268712:p.Glu335Gln					NCOR1_uc002gpn.2_Missense_Mutation_p.E335Q|NCOR1_uc002gpp.1_Missense_Mutation_p.E226Q|NCOR1_uc002gpr.2_Missense_Mutation_p.E226Q|NCOR1_uc002gps.1_Missense_Mutation_p.E344Q|NCOR1_uc010coz.1_Missense_Mutation_p.E151Q|NCOR1_uc010cpb.1_Missense_Mutation_p.E344Q|NCOR1_uc010cpa.1_Missense_Mutation_p.E335Q	p.E335Q	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	10	1243	-			335			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.1003G>C	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864917	0.51482	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.4	5.4	0.78164	.	0.043490	0.85682	D	0.000000	T	0.60612	0.2282	L	0.58101	1.795	0.80722	D	1	P;P;P;P;P;D	0.63880	0.768;0.609;0.609;0.877;0.731;0.993	B;B;B;P;P;D	0.63033	0.418;0.418;0.418;0.453;0.644;0.91	T	0.61969	-0.6953	10	0.72032	D	0.01	-11.9866	18.5255	0.90971	0.0:1.0:0.0:0.0	.	344;335;335;226;335;335	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	Q	335;335;226;344;226;335;344	ENSP00000268712:E335Q;ENSP00000379192:E335Q;ENSP00000379189:E226Q;ENSP00000407998:E335Q;ENSP00000387727:E344Q	ENSP00000268712:E335Q	E	-	1	0	NCOR1	15990494	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.696000	0.92011	0.561000	0.74099	GAA		0.368	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311		8	48	0	0	0	0.008291	0	8	48		
RAI1	10743	broad.mit.edu	37	17	17700429	17700429	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:17700429G>A	ENST00000353383.1	+	3	4636	c.4167G>A	c.(4165-4167)caG>caA	p.Q1389Q	RAI1_ENST00000261641.6_Silent_p.Q1389Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1389					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCACCGGGCAGAAGCTCCCAA	0.537																																						uc002grm.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(4165-4167)CAG>CAA		retinoic acid induced 1							80.0	85.0	83.0					17																	17700429		2203	4300	6503	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17700429G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4167G>A	17.37:g.17700429G>A						RAI1_uc002grn.1_Silent_p.Q1389Q	p.Q1389Q	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4636	+			1389					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.4167G>A	CCDS11188.1																																																																																				0.537	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		NM_030665		13	79	0	0	0	0.004007	0	13	79		
FAM83G	644815	broad.mit.edu	37	17	18881778	18881778	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:18881778G>A	ENST00000388995.6	-	5	1424	c.1201C>T	c.(1201-1203)Cac>Tac	p.H401Y	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.H401Y|FAM83G_ENST00000345041.4_Missense_Mutation_p.H401Y|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	401					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTCTCCAGGTGAAGCAGTCCT	0.637																																						uc002guw.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1201-1203)CAC>TAC		hypothetical protein LOC644815							32.0	38.0	36.0					17																	18881778		2017	4164	6181	SO:0001583	missense	644815							g.chr17:18881778G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1201C>T	17.37:g.18881778G>A	ENSP00000373647:p.His401Tyr					SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.H401Y	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			5	1368	-			401					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1201C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862491	0.32884	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.11495	2.77;2.77	5.5	-1.29	0.09288	.	0.330891	0.29932	N	0.010821	T	0.06872	0.0175	N	0.22421	0.69	0.19300	N	0.999976	P	0.37781	0.608	B	0.28553	0.091	T	0.09552	-1.0669	10	0.72032	D	0.01	-24.1897	16.9945	0.86363	0.0:0.0:0.6162:0.3838	.	401	A6ND36	FA83G_HUMAN	Y	401	ENSP00000373647:H401Y;ENSP00000343279:H401Y	ENSP00000343279:H401Y	H	-	1	0	FAM83G	18822503	0.016000	0.18221	0.914000	0.36105	0.678000	0.39670	-0.255000	0.08769	-0.584000	0.05913	0.491000	0.48974	CAC		0.637	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4				3	13	0	0	0	0.004672	0	3	13		
RNF112	7732	broad.mit.edu	37	17	19316427	19316427	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:19316427C>T	ENST00000461366.1	+	4	773	c.558C>T	c.(556-558)ctC>ctT	p.L186L	CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_Intron	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	186	GB1/RHD3-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCTTCCTCCTCAACCATTTGC	0.682																																						uc010vyw.1		NaN																	0				ovary(2)	2						c.(556-558)CTC>CTT		ring finger protein 112							22.0	25.0	24.0					17																	19316427		2012	4157	6169	SO:0001819	synonymous_variant	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19316427C>T	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.558C>T	17.37:g.19316427C>T						RNF112_uc010vyu.1_Silent_p.L186L|RNF112_uc010vyv.1_Silent_p.L186L|RNF112_uc010vyx.1_Intron	p.L186L	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN			4	757	+			186					O60633|Q7Z5V9	Silent	SNP	ENST00000461366.1	37	c.558C>T	CCDS58529.1																																																																																				0.682	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4		NM_007148		5	84	0	0	0	0.004482	0	5	84		
TMEM199	147007	broad.mit.edu	37	17	26687798	26687798	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:26687798C>G	ENST00000292114.3	+	5	549	c.459C>G	c.(457-459)ttC>ttG	p.F153L	TMEM199_ENST00000395404.3_5'UTR|TMEM199_ENST00000509083.1_Missense_Mutation_p.F153L|CTB-96E2.7_ENST00000577850.1_RNA|MIR4723_ENST00000585070.1_RNA|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	153						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCTTCAATTTCATTGTCACGG	0.502																																						uc010wah.1		NaN																	0					0						c.(457-459)TTC>TTG		transmembrane protein 199							101.0	98.0	99.0					17																	26687798		2203	4300	6503	SO:0001583	missense	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26687798C>G	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.459C>G	17.37:g.26687798C>G	ENSP00000292114:p.Phe153Leu					TMEM199_uc002hba.2_Missense_Mutation_p.F153L	p.F153L	NM_152464	NP_689677	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	5	466	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)		Error:Variant_position_missing_in_Q6SZW1_after_alignment						Missense_Mutation	SNP	ENST00000292114.3	37	c.459C>G	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334531	0.95758	.	.	ENSG00000244045	ENST00000292114;ENST00000509083;ENST00000395404	T;T	0.30714	1.52;1.52	6.06	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.992	T	0.59516	-0.7440	10	0.39692	T	0.17	-19.4746	14.5323	0.67934	0.0:0.9277:0.0:0.0723	.	153;153	E9PBQ3;Q8N511	.;TM199_HUMAN	L	153;153;71	ENSP00000292114:F153L;ENSP00000427614:F153L	ENSP00000292114:F153L	F	+	3	2	TMEM199	23711925	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.490000	0.60319	1.509000	0.48786	0.655000	0.94253	TTC		0.502	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2		NM_152464		14	108	0	0	0	0.010504	0	14	108		
KIAA0100	9703	broad.mit.edu	37	17	26964034	26964034	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:26964034G>A	ENST00000528896.2	-	15	2000	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L	RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.L499L|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.L499L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	642						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGGAAAGGCTGAGCACTGGGG	0.547																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(1924-1926)CTC>CTT		hypothetical protein LOC9703 precursor							129.0	113.0	118.0					17																	26964034		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26964034G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1926C>T	17.37:g.26964034G>A							p.L642L	NM_014680	NP_055495	Q14667	K0100_HUMAN			15	2025	-	Lung NSC(42;0.00431)		642					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.1926C>T	CCDS32595.1																																																																																				0.547	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		25	155	0	0	0	0.002836	0	25	155		
ERAL1	26284	broad.mit.edu	37	17	27186107	27186107	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:27186107G>A	ENST00000254928.5	+	8	1183	c.1086G>A	c.(1084-1086)caG>caA	p.Q362Q	MIR144_ENST00000384886.1_lincRNA|MIR144_ENST00000581873.1_lincRNA|MIR144_ENST00000385059.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	362	KH type-2.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			ACCTGCCCCAGGAGGTGCCTT	0.527																																						uc002hcy.1		NaN																	0				skin(1)	1						c.(1084-1086)CAG>CAA		Era-like 1							83.0	85.0	84.0					17																	27186107		2203	4300	6503	SO:0001819	synonymous_variant	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27186107G>A	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.1086G>A	17.37:g.27186107G>A						ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_Silent_p.Q169Q|ERAL1_uc002hdb.1_Silent_p.Q245Q	p.Q362Q	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		8	1096	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		362			KH type-2.		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Silent	SNP	ENST00000254928.5	37	c.1086G>A	CCDS11244.1																																																																																				0.527	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2				13	110	0	0	0	0.004007	0	13	110		
MYO18A	399687	broad.mit.edu	37	17	27419972	27419972	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:27419972C>T	ENST00000527372.1	-	33	5154	c.4974G>A	c.(4972-4974)ctG>ctA	p.L1658L	MYO18A_ENST00000531253.1_Silent_p.L1658L|MYO18A_ENST00000354329.4_Silent_p.L1658L|MYO18A_ENST00000529578.1_5'Flank|MYO18A_ENST00000533112.1_Silent_p.L1621L|TIAF1_ENST00000408971.2_5'Flank	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1658					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGGTGCGCTTCAGGTCCTTCC	0.617																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NaN																	0					0						c.(4972-4974)CTG>CTA		myosin 18A isoform a							70.0	82.0	78.0					17																	27419972		2122	4235	6357	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27419972C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4974G>A	17.37:g.27419972C>T						MYO18A_uc010wbc.1_Silent_p.L1191L|MYO18A_uc002hds.2_Silent_p.L1200L|MYO18A_uc010csa.1_Silent_p.L1621L|MYO18A_uc002hdu.1_Silent_p.L1658L	p.L1658L	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		33	5132	-			1658			Potential.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.4974G>A	CCDS45642.1																																																																																				0.617	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1		NM_078471		13	68	0	0	0	0.001368	0	13	68		
CORO6	84940	broad.mit.edu	37	17	27943163	27943163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:27943163C>T	ENST00000445145.2	-	9	1094	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N	RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000456796.3_Missense_Mutation_p.D131N|CORO6_ENST00000584969.1_Missense_Mutation_p.D365N|CORO6_ENST00000388767.3_Missense_Mutation_p.D365N|CORO6_ENST00000580212.1_Missense_Mutation_p.D325N|CORO6_ENST00000345068.5_Missense_Mutation_p.D365N|CORO6_ENST00000577909.1_5'UTR			Q6QEF8	CORO6_HUMAN	coronin 6	365					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CCTGGCGTATCCGGGTACAGA	0.672																																						uc002hel.2		NaN																	0					0						c.(1093-1095)GAT>AAT		coronin 6							27.0	32.0	31.0					17																	27943163		2202	4298	6500	SO:0001583	missense	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27943163C>T	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.1093G>A	17.37:g.27943163C>T	ENSP00000393624:p.Asp365Asn					CORO6_uc002hem.2_Missense_Mutation_p.D131N|CORO6_uc002hen.2_Missense_Mutation_p.D131N	p.D365N	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN			9	1095	-			365					B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	ENST00000445145.2	37	c.1093G>A		.	.	.	.	.	.	.	.	.	.	C	21.0	4.084991	0.76642	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	T;T	0.34472	1.36;1.36	5.26	5.26	0.73747	.	0.055429	0.64402	D	0.000002	T	0.42988	0.1227	M	0.67569	2.06	0.80722	D	1	P;B	0.44195	0.828;0.308	B;B	0.41088	0.347;0.331	T	0.49579	-0.8925	10	0.62326	D	0.03	-0.7653	18.4911	0.90848	0.0:1.0:0.0:0.0	.	131;365	Q6QEF8-4;Q6QEF8-5	.;.	N	436;365;365	ENSP00000373419:D365N;ENSP00000393624:D365N	ENSP00000344562:D436N	D	-	1	0	CORO6	24967289	1.000000	0.71417	0.945000	0.38365	0.979000	0.70002	7.760000	0.85248	2.448000	0.82819	0.561000	0.74099	GAT		0.672	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1		NM_032854		14	96	0	0	0	0.003163	0	14	96		
BLMH	642	broad.mit.edu	37	17	28593921	28593921	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:28593921C>T	ENST00000261714.6	-	11	1372	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	BLMH_ENST00000394819.3_Missense_Mutation_p.E313K	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	400					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	CCATGGTCTTCACCCCATGAA	0.493																																					Pancreas(127;628 1772 12912 33293 36203)	uc002hez.1		NaN																	0				ovary(1)	1						c.(1198-1200)GAA>AAA		bleomycin hydrolase							171.0	126.0	141.0					17																	28593921		2203	4300	6503	SO:0001583	missense	642				proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	g.chr17:28593921C>T	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.1198G>A	17.37:g.28593921C>T	ENSP00000261714:p.Glu400Lys					BLMH_uc010wbn.1_Missense_Mutation_p.E313K	p.E400K	NM_000386	NP_000377	Q13867	BLMH_HUMAN			11	1435	-			400					B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	c.1198G>A	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213617	0.79352	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	T;T	0.46819	0.86;0.86	5.91	5.91	0.95273	.	0.047168	0.85682	D	0.000000	T	0.40522	0.1120	N	0.21142	0.635	0.80722	D	1	B;B	0.17465	0.012;0.022	B;B	0.24701	0.037;0.055	T	0.12656	-1.0539	10	0.40728	T	0.16	-17.6192	19.2865	0.94077	0.0:1.0:0.0:0.0	.	313;400	E7EMN3;Q13867	.;BLMH_HUMAN	K	400;313	ENSP00000261714:E400K;ENSP00000378296:E313K	ENSP00000261714:E400K	E	-	1	0	BLMH	25618047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.243000	0.78219	2.802000	0.96397	0.655000	0.94253	GAA		0.493	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1		NM_000386		4	70	0	0	0	0.000602	0	4	70		
TBC1D29	26083	broad.mit.edu	37	17	28890294	28890294	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:28890294G>A	ENST00000580161.1	+	6	2801	c.304G>A	c.(304-306)Gag>Aag	p.E102K	RP11-218M11.1_ENST00000563063.1_lincRNA|TBC1D29_ENST00000579181.1_Missense_Mutation_p.E102K|TBC1D29_ENST00000584297.1_3'UTR			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	102							Rab GTPase activator activity (GO:0005097)			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				GACAGCCTCAGAGAGCAGCAG	0.597																																						uc002hfh.2		NaN																	0					0						c.(304-306)GAG>AAG		TBC1 domain family, member 29							44.0	41.0	42.0					17																	28890294		2203	4300	6503	SO:0001583	missense	26083					intracellular	Rab GTPase activator activity	g.chr17:28890294G>A	BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.304G>A	17.37:g.28890294G>A	ENSP00000462799:p.Glu102Lys					TBC1D29_uc002hfi.2_RNA	p.E102K	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN			5	453	+		Myeloproliferative disorder(56;0.0255)	102						Missense_Mutation	SNP	ENST00000580161.1	37	c.304G>A	CCDS32606.1	.	.	.	.	.	.	.	.	.	.	.	2.664	-0.278983	0.05642	.	.	ENSG00000197689	ENST00000329040	.	.	.	.	.	.	.	.	.	.	.	T	0.15609	0.0376	N	0.08118	0	0.21105	N	0.99978	P	0.37398	0.593	P	0.45577	0.486	T	0.20605	-1.0270	7	0.02654	T	1	.	5.89	0.18904	8.0E-4:0.0:0.9992:0.0	.	102	Q9UFV1	TBC29_HUMAN	K	102	.	ENSP00000330052:E102K	E	+	1	0	TBC1D29	25914420	0.986000	0.35501	0.061000	0.19648	0.062000	0.15995	1.303000	0.33470	0.107000	0.17824	0.109000	0.15622	GAG		0.597	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443632.1		NM_015594		6	45	0	0	0	0.001984	0	6	45		
NF1	4763	broad.mit.edu	37	17	29490350	29490350	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:29490350C>T	ENST00000358273.4	+	4	818	c.435C>T	c.(433-435)ctC>ctT	p.L145L	NF1_ENST00000431387.4_Silent_p.L145L|NF1_ENST00000356175.3_Silent_p.L145L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	145			L -> P (in NF1; dbSNP:rs199474734). {ECO:0000269|PubMed:15060124}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATTTTCTCTCAGCTGCAACA	0.418			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NaN	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)	p.0?(5)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(433-435)CTC>CTT		neurofibromin isoform 1							60.0	58.0	59.0					17																	29490350		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29490350C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.435C>T	17.37:g.29490350C>T		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Silent_p.L145L|NF1_uc002hgf.1_Silent_p.L145L|NF1_uc002hgh.2_Silent_p.L145L|NF1_uc010csn.1_Missense_Mutation_p.S41L	p.L145L	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	4	768	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	145		L -> P (in NF1).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.435C>T	CCDS42292.1																																																																																				0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267		7	45	0	0	0	0.006214	0	7	45		
RAB11FIP4	84440	broad.mit.edu	37	17	29849000	29849000	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:29849000C>T	ENST00000325874.8	+	6	1055	c.826C>T	c.(826-828)Caa>Taa	p.Q276*	RAB11FIP4_ENST00000394744.2_Nonsense_Mutation_p.Q174*	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	276	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TTACTGCTCTCAATGCTGCAA	0.527																																						uc002hgn.1		NaN																	0				skin(1)	1						c.(826-828)CAA>TAA		RAB11 family interacting protein 4 (class II)							120.0	115.0	116.0					17																	29849000		2203	4300	6503	SO:0001587	stop_gained	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29849000C>T	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.826C>T	17.37:g.29849000C>T	ENSP00000312837:p.Gln276*					RAB11FIP4_uc002hgo.2_Nonsense_Mutation_p.Q174*	p.Q276*	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN			6	1055	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	276			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Nonsense_Mutation	SNP	ENST00000325874.8	37	c.826C>T	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	C	40	7.943502	0.98574	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-45.4079	15.4203	0.75006	0.0:1.0:0.0:0.0	.	.	.	.	X	276	.	.	Q	+	1	0	RAB11FIP4	26873120	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.125000	0.77193	2.769000	0.95229	0.655000	0.94253	CAA		0.527	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2		NM_032932		19	141	0	0	0	0.002299	0	19	141		
RHOT1	55288	broad.mit.edu	37	17	30503214	30503214	+	Missense_Mutation	SNP	G	G	A	rs534936297		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:30503214G>A	ENST00000333942.6	+	6	550	c.311G>A	c.(310-312)aGa>aAa	p.R104K	RHOT1_ENST00000358365.3_Missense_Mutation_p.R104K|RHOT1_ENST00000583994.1_5'UTR|RHOT1_ENST00000545287.2_Missense_Mutation_p.R104K|RHOT1_ENST00000354266.3_Missense_Mutation_p.R83K|RHOT1_ENST00000394692.2_Missense_Mutation_p.R104K|RHOT1_ENST00000581094.1_Missense_Mutation_p.R104K|RHOT1_ENST00000580976.1_Intron	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	104	Miro 1.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ATAAATGAAAGAACAGACAAA	0.328													G|||	1	0.000199681	0.0	0.0	5008	,	,		15167	0.0		0.0	False		,,,				2504	0.001					uc002hgz.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(310-312)AGA>AAA		ras homolog gene family, member T1 isoform 3							65.0	64.0	64.0					17																	30503214		2203	4298	6501	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30503214G>A	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.311G>A	17.37:g.30503214G>A	ENSP00000334724:p.Arg104Lys					RHOT1_uc002hgw.2_Missense_Mutation_p.R104K|RHOT1_uc002hgy.2_Missense_Mutation_p.R104K|RHOT1_uc002hha.2_5'UTR|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_5'UTR|RHOT1_uc010wby.1_Missense_Mutation_p.R104K|RHOT1_uc002hhb.2_Missense_Mutation_p.R83K|RHOT1_uc002hgv.2_Missense_Mutation_p.R104K	p.R104K	NM_018307	NP_060777	Q8IXI2	MIRO1_HUMAN			6	550	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	104			Miro 1.|Mitochondrial intermembrane (Potential).		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.311G>A	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153973	0.38021	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942;ENST00000545287	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.14	5.14	0.70334	Small GTP-binding protein domain (1);MIRO (1);	0.177443	0.64402	D	0.000012	T	0.66713	0.2817	N	0.17278	0.47	0.80722	D	1	B;B;B;B	0.18741	0.03;0.002;0.005;0.004	B;B;B;B	0.18561	0.013;0.014;0.008;0.022	T	0.63427	-0.6640	10	0.05959	T	0.93	-11.6687	18.6223	0.91326	0.0:0.0:1.0:0.0	.	104;104;104;104	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	K	104	ENSP00000351132:R104K;ENSP00000378184:R104K;ENSP00000334724:R104K;ENSP00000439737:R104K	ENSP00000334724:R104K	R	+	2	0	RHOT1	27527327	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.877000	0.69675	2.385000	0.81259	0.655000	0.94253	AGA		0.328	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1		NM_018307		3	26	0	0	0	0.009096	0	3	26		
ZNF830	91603	broad.mit.edu	37	17	33288630	33288630	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:33288630G>C	ENST00000361952.3	+	1	82	c.45G>C	c.(43-45)gtG>gtC	p.V15V	CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000436961.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	15					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				GGAAGCGAGTGATAAATCAGG	0.557																																						uc002hih.3		NaN																	0				breast(1)	1						c.(43-45)GTG>GTC		coiled-coil domain containing 16							81.0	88.0	85.0					17																	33288630		2203	4300	6503	SO:0001819	synonymous_variant	91603				cell division|mitosis	cytoplasm|nucleus	metal ion binding	g.chr17:33288630G>C	AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"""orphan maintenance of genome 1"""		"""coiled-coil domain containing 16"""	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.45G>C	17.37:g.33288630G>C						CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank	p.V15V	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN			1	82	+		Ovarian(249;0.17)	15					Q96F60|Q96GZ5|Q9BU38	Silent	SNP	ENST00000361952.3	37	c.45G>C	CCDS32618.1																																																																																				0.557	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1		NM_052857		21	132	0	0	0	0.00278	0	21	132		
SLFN5	162394	broad.mit.edu	37	17	33586238	33586238	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:33586238G>C	ENST00000299977.4	+	2	677	c.529G>C	c.(529-531)Gat>Cat	p.D177H	SLFN5_ENST00000542451.1_Missense_Mutation_p.D177H|SLFN5_ENST00000592325.1_Missense_Mutation_p.D177H	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	177					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGCTTTATTTGATAGAAAGCG	0.398																																						uc002hjf.3		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(529-531)GAT>CAT		schlafen family member 5							131.0	126.0	128.0					17																	33586238		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33586238G>C	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.529G>C	17.37:g.33586238G>C	ENSP00000299977:p.Asp177His					SLFN5_uc002hje.2_Missense_Mutation_p.D177H|SLFN5_uc010wcg.1_Missense_Mutation_p.D177H	p.D177H	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	2	646	+		Ovarian(249;0.17)	177					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.529G>C	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	G	7.749	0.702955	0.15172	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.06849	4.52;3.25	3.45	-2.03	0.07365	.	1.771050	0.03632	N	0.238017	T	0.04861	0.0131	N	0.12182	0.205	0.09310	N	1	B;B;B	0.15141	0.012;0.002;0.005	B;B;B	0.17433	0.003;0.001;0.018	T	0.40001	-0.9586	10	0.37606	T	0.19	.	3.8441	0.08926	0.4767:0.1963:0.327:0.0	.	177;177;177	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	H	177	ENSP00000299977:D177H;ENSP00000440537:D177H	ENSP00000299977:D177H	D	+	1	0	SLFN5	30610351	0.000000	0.05858	0.001000	0.08648	0.183000	0.23260	-1.185000	0.03073	-0.245000	0.09625	0.563000	0.77884	GAT		0.398	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2		NM_144975		8	74	0	0	0	0.008291	0	8	74		
ACACA	31	broad.mit.edu	37	17	35615184	35615184	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:35615184G>A	ENST00000394406.2	-	13	1691	c.1501C>T	c.(1501-1503)Cca>Tca	p.P501S	ACACA_ENST00000360679.3_Missense_Mutation_p.P443S|ACACA_ENST00000335166.5_Missense_Mutation_p.P423S|ACACA_ENST00000353139.5_Missense_Mutation_p.P538S	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	501	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGCCCCTTGGACAAGGAACG	0.408																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1501-1503)CCA>TCA		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						89.0	85.0	86.0					17																	35615184		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35615184G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1501C>T	17.37:g.35615184G>A	ENSP00000377928:p.Pro501Ser					ACACA_uc002hnk.2_Missense_Mutation_p.P423S|ACACA_uc002hnl.2_Missense_Mutation_p.P443S|ACACA_uc002hnn.2_Missense_Mutation_p.P501S|ACACA_uc002hno.2_Missense_Mutation_p.P538S|ACACA_uc010cuz.2_Missense_Mutation_p.P501S	p.P501S	NM_198836	NP_942133	Q13085	ACACA_HUMAN			13	1692	-		Breast(25;0.00157)|Ovarian(249;0.15)	501			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.1501C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938031	0.92526	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.88	5.93	4.96	0.65561	ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);	0.048786	0.85682	D	0.000000	D	0.97498	0.9181	M	0.82056	2.57	0.80722	D	1	D;D;D	0.60160	0.981;0.977;0.987	P;P;D	0.66847	0.897;0.767;0.947	D	0.98030	1.0376	10	0.66056	D	0.02	-5.6661	16.285	0.82714	0.0:0.1325:0.8675:0.0	.	538;501;443	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	S	538;443;501;525;423	ENSP00000344789:P538S;ENSP00000353898:P443S;ENSP00000377928:P501S;ENSP00000335323:P423S	ENSP00000335323:P423S	P	-	1	0	ACACA	32689297	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	6.747000	0.74872	1.518000	0.48934	0.655000	0.94253	CCA		0.408	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		7	55	0	0	0	0.006214	0	7	55		
ACACA	31	broad.mit.edu	37	17	35627678	35627678	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:35627678G>A	ENST00000394406.2	-	10	1162	c.972C>T	c.(970-972)gtC>gtT	p.V324V	ACACA_ENST00000360679.3_Silent_p.V266V|ACACA_ENST00000335166.5_Silent_p.V246V|ACACA_ENST00000353139.5_Silent_p.V361V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	324	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGCATTGTTGACTTTTCTAA	0.363																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(970-972)GTC>GTT		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						252.0	234.0	240.0					17																	35627678		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35627678G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.972C>T	17.37:g.35627678G>A						ACACA_uc002hnk.2_Silent_p.V246V|ACACA_uc002hnl.2_Silent_p.V266V|ACACA_uc002hnn.2_Silent_p.V324V|ACACA_uc002hno.2_Silent_p.V361V|ACACA_uc010cuz.2_Silent_p.V324V	p.V324V	NM_198836	NP_942133	Q13085	ACACA_HUMAN			10	1163	-		Breast(25;0.00157)|Ovarian(249;0.15)	324			Biotin carboxylation.|ATP-grasp.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.972C>T	CCDS11317.1																																																																																				0.363	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		15	151	0	0	0	0.007413	0	15	151		
STARD3	10948	broad.mit.edu	37	17	37810000	37810000	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:37810000G>C	ENST00000336308.5	+	2	434	c.216G>C	c.(214-216)ctG>ctC	p.L72L	STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000394250.4_Silent_p.L72L|STARD3_ENST00000580611.1_Silent_p.L72L|STARD3_ENST00000544210.2_Silent_p.L72L	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	72	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCATCGAACTGAATGTGAGTG	0.622											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hsd.2		NaN																	0					0						c.(214-216)CTG>CTC		StAR-related lipid transfer (START) domain							84.0	65.0	71.0					17																	37810000		2203	4300	6503	SO:0001819	synonymous_variant	10948				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37810000G>C		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.216G>C	17.37:g.37810000G>C			OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	873	STARD3_uc010weg.1_Silent_p.L72L|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Silent_p.L72L|STARD3_uc010wei.1_Silent_p.L72L|STARD3_uc002hsf.2_5'UTR	p.L72L	NM_006804	NP_006795	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	340	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		72			Helical; (Potential).|MENTAL.		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Silent	SNP	ENST00000336308.5	37	c.216G>C	CCDS11341.1																																																																																				0.622	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1				12	107	0	0	0	0.001855	0	12	107		
ERBB2	2064	broad.mit.edu	37	17	37884048	37884048	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:37884048C>G	ENST00000269571.5	+	27	3678	c.3519C>G	c.(3517-3519)ctC>ctG	p.L1173L	ERBB2_ENST00000541774.1_Silent_p.L1158L|ERBB2_ENST00000445658.2_Silent_p.L897L|ERBB2_ENST00000540147.1_Silent_p.L1143L|ERBB2_ENST00000406381.2_Silent_p.L1143L|MIEN1_ENST00000474210.1_5'Flank|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000584601.1_Silent_p.L1143L			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1173					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCAAGACTCTCTCCCCAGGGA	0.642		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(3517-3519)CTC>CTG		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						41.0	50.0	47.0					17																	37884048		2203	4300	6503	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37884048C>G	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3519C>G	17.37:g.37884048C>G		TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Silent_p.L1143L|ERBB2_uc010cwa.2_Silent_p.L1158L|ERBB2_uc002hsp.2_Silent_p.L976L|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Silent_p.L897L	p.L1173L	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	27	3757	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1173			Cytoplasmic (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.3519C>G	CCDS32642.1																																																																																				0.642	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2				8	61	0	0	0	0.008291	0	8	61		
ERBB2	2064	broad.mit.edu	37	17	37884180	37884180	+	Silent	SNP	C	C	T	rs188050006		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:37884180C>T	ENST00000269571.5	+	27	3810	c.3651C>T	c.(3649-3651)ttC>ttT	p.F1217F	ERBB2_ENST00000541774.1_Silent_p.F1202F|ERBB2_ENST00000445658.2_Silent_p.F941F|ERBB2_ENST00000540147.1_Silent_p.F1187F|ERBB2_ENST00000406381.2_Silent_p.F1187F|MIEN1_ENST00000474210.1_5'Flank|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000584601.1_Silent_p.F1187F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1217					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GCCCAGCCTTCGACAACCTCT	0.627		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			C|||	1	0.000199681	0.0	0.0	5008	,	,		15732	0.001		0.0	False		,,,				2504	0.0					uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(3649-3651)TTC>TTT		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	C	,	0,4406		0,0,2203	46.0	52.0	50.0		3561,3651	1.4	1.0	17		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ERBB2	NM_001005862.1,NM_004448.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1187/1226,1217/1256	37884180	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37884180C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3651C>T	17.37:g.37884180C>T		TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Silent_p.F1187F|ERBB2_uc010cwa.2_Silent_p.F1202F|ERBB2_uc002hsp.2_Silent_p.F1020F|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Silent_p.F941F	p.F1217F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	27	3889	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1217			Cytoplasmic (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.3651C>T	CCDS32642.1																																																																																				0.627	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2				25	153	0	0	0	0.00632	0	25	153		
IKZF3	22806	broad.mit.edu	37	17	37947692	37947692	+	Missense_Mutation	SNP	G	G	A	rs373189252		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:37947692G>A	ENST00000346872.3	-	5	630	c.569C>T	c.(568-570)aCg>aTg	p.T190M	IKZF3_ENST00000439167.2_Missense_Mutation_p.T156M|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.T190M|IKZF3_ENST00000535189.1_Missense_Mutation_p.T156M|IKZF3_ENST00000346243.3_Missense_Mutation_p.T190M|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377958.2_Missense_Mutation_p.T103M|IKZF3_ENST00000351680.3_Missense_Mutation_p.T190M|IKZF3_ENST00000377952.2_Intron	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	190					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAGATGCCCCGTGAGCGCATC	0.463																																						uc002hsu.2		NaN																	0				lung(2)|kidney(2)|skin(2)	6						c.(568-570)ACG>ATG		aiolos isoform 1		G	MET/THR,MET/THR,MET/THR,MET/THR,,	0,4406		0,0,2203	181.0	162.0	169.0		569,569,569,569,,	5.5	1.0	17		169	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,intron,intron	IKZF3	NM_012481.3,NM_183229.1,NM_183230.1,NM_183232.1,NM_183228.1,NM_183231.1	81,81,81,81,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,	190/510,190/471,190/471,190/432,,	37947692	1,13005	2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37947692G>A	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.569C>T	17.37:g.37947692G>A	ENSP00000344544:p.Thr190Met					IKZF3_uc002htd.2_Missense_Mutation_p.T156M|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Missense_Mutation_p.T156M|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Missense_Mutation_p.T190M|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Missense_Mutation_p.T190M|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Missense_Mutation_p.T190M|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.T103M|IKZF3_uc002htc.2_Intron	p.T190M	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		5	631	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		190			C2H2-type 3.		B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.569C>T	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.56|19.56	3.850703|3.850703	0.71719|0.71719	0.0|0.0	1.16E-4|1.16E-4	ENSG00000161405|ENSG00000161405	ENST00000439167;ENST00000439016|ENST00000488188;ENST00000377958;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532	.|T;T;T;T;T	.|0.68479	.|-0.33;3.16;0.92;-0.33;3.16	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.64402	.|D	.|0.000017	T|T	0.72906|0.72906	0.3519|0.3519	L|L	0.28400|0.28400	0.85|0.85	0.80722|0.80722	D|D	1|1	.|B;D;D;D;D;D;D	.|0.89917	.|0.321;1.0;1.0;0.981;0.999;0.999;1.0	.|B;D;D;B;D;P;D	.|0.74348	.|0.049;0.979;0.976;0.424;0.92;0.897;0.983	T|T	0.73525|0.73525	-0.3955|-0.3955	5|10	.|0.51188	.|T	.|0.08	-16.4458|-16.4458	16.0364|16.0364	0.80631|0.80631	0.0:0.1342:0.8658:0.0|0.0:0.1342:0.8658:0.0	.|.	.|103;156;190;190;190;156;190	.|Q9UKT9-9;Q9UKT9-7;Q9UKT9-6;Q9UKT9-4;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.|.;.;.;.;.;.;IKZF3_HUMAN	W|M	144|190;103;156;190;190;190	.|ENSP00000367194:T103M;ENSP00000438972:T156M;ENSP00000345622:T190M;ENSP00000341977:T190M;ENSP00000344471:T190M	.|ENSP00000341977:T190M	R|T	-|-	1|2	2|0	IKZF3|IKZF3	35201218|35201218	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.782000|0.782000	0.44232|0.44232	7.872000|7.872000	0.87187|0.87187	2.744000|2.744000	0.94065|0.94065	0.650000|0.650000	0.86243|0.86243	CGG|ACG		0.463	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2		NM_012481		8	141	0	0	0	0.006122	0	8	141		
IKZF3	22806	broad.mit.edu	37	17	37947694	37947694	+	Silent	SNP	G	G	A	rs543466084		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:37947694G>A	ENST00000346872.3	-	5	628	c.567C>T	c.(565-567)ctC>ctT	p.L189L	IKZF3_ENST00000439167.2_Silent_p.L155L|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000350532.3_Silent_p.L189L|IKZF3_ENST00000535189.1_Silent_p.L155L|IKZF3_ENST00000346243.3_Silent_p.L189L|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377958.2_Silent_p.L102L|IKZF3_ENST00000351680.3_Silent_p.L189L|IKZF3_ENST00000377952.2_Intron	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	189					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GATGCCCCGTGAGCGCATCTC	0.468																																						uc002hsu.2		NaN																	0				lung(2)|kidney(2)|skin(2)	6						c.(565-567)CTC>CTT		aiolos isoform 1							183.0	163.0	170.0					17																	37947694		2203	4300	6503	SO:0001819	synonymous_variant	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37947694G>A	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.567C>T	17.37:g.37947694G>A						IKZF3_uc002htd.2_Silent_p.L155L|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Silent_p.L155L|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Silent_p.L189L|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Silent_p.L189L|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Silent_p.L189L|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Silent_p.L102L|IKZF3_uc002htc.2_Intron	p.L189L	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		5	629	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		189			C2H2-type 3.		B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent	SNP	ENST00000346872.3	37	c.567C>T	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	G	7.672	0.687195	0.14973	.	.	ENSG00000161405	ENST00000439167;ENST00000439016	T	0.05855	3.38	5.49	4.5	0.54988	.	.	.	.	.	T	0.11153	0.0272	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10268	-1.0637	5	.	.	.	-17.9532	9.3331	0.38034	0.0689:0.0:0.6716:0.2595	.	.	.	.	L	143	ENSP00000403027:S143L	.	S	-	2	0	IKZF3	35201220	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.505000	0.45424	1.415000	0.47037	0.650000	0.86243	TCA		0.468	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2		NM_012481		10	146	0	0	0	0.008871	0	10	146		
CASC3	22794	broad.mit.edu	37	17	38318321	38318321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:38318321G>A	ENST00000264645.7	+	5	749	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	175	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						TGATGATGAAGATCGGAAGAA	0.478																																						uc010cwt.1		NaN																	0				ovary(1)	1						c.(523-525)GAT>AAT		metastatic lymph node 51							90.0	90.0	90.0					17																	38318321		2203	4300	6503	SO:0001583	missense	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38318321G>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.523G>A	17.37:g.38318321G>A	ENSP00000264645:p.Asp175Asn					CASC3_uc010cws.1_Missense_Mutation_p.D175N|CASC3_uc002hue.2_Missense_Mutation_p.D175N	p.D175N	NM_007359	NP_031385	O15234	CASC3_HUMAN			5	818	+			175			Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.		A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.523G>A	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737270	0.69304	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.9	5.9	0.94986	CASC3/Barentsz eIF4AIII binding (1);	0.000000	0.85682	D	0.000000	T	0.78502	0.4293	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78770	-0.2074	9	0.72032	D	0.01	-21.1312	19.0469	0.93025	0.0:0.0:1.0:0.0	.	175;175	B4DKR6;O15234	.;CASC3_HUMAN	N	175	.	ENSP00000264645:D175N	D	+	1	0	CASC3	35571847	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.274000	0.95731	2.793000	0.96121	0.609000	0.83330	GAT		0.478	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3		NM_007359		13	82	0	0	0	0.00245	0	13	82		
KRT26	353288	broad.mit.edu	37	17	38928361	38928361	+	Missense_Mutation	SNP	G	G	C	rs200791689		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:38928361G>C	ENST00000335552.4	-	1	53	c.5C>G	c.(4-6)tCt>tGt	p.S2C		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AAGTCGAAAAGACATGGTGGC	0.547																																						uc002hvf.2		NaN																	0					0						c.(4-6)TCT>TGT		keratin 26							72.0	73.0	72.0					17																	38928361		2203	4300	6503	SO:0001583	missense	353288					intermediate filament	structural molecule activity	g.chr17:38928361G>C	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.5C>G	17.37:g.38928361G>C	ENSP00000334798:p.Ser2Cys						p.S2C	NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN			1	51	-		Breast(137;0.00526)	2			Head.			Missense_Mutation	SNP	ENST00000335552.4	37	c.5C>G	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947914	0.73787	.	.	ENSG00000186393	ENST00000335552	D	0.83914	-1.78	5.39	5.39	0.77823	.	0.000000	0.56097	D	0.000026	D	0.85809	0.5783	N	0.24115	0.695	0.48511	D	0.999669	D	0.76494	0.999	D	0.70227	0.968	D	0.87729	0.2578	10	0.87932	D	0	.	18.5024	0.90887	0.0:0.0:1.0:0.0	.	2	Q7Z3Y9	K1C26_HUMAN	C	2	ENSP00000334798:S2C	ENSP00000334798:S2C	S	-	2	0	KRT26	36181887	0.999000	0.42202	1.000000	0.80357	0.657000	0.38888	3.465000	0.53064	2.690000	0.91761	0.655000	0.94253	TCT		0.547	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1		NM_181539		15	92	0	0	0	0.003163	0	15	92		
KRT15	3866	broad.mit.edu	37	17	39671773	39671773	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:39671773C>T	ENST00000254043.3	-	6	4783	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	KRT15_ENST00000393976.2_Missense_Mutation_p.E400K|KRT15_ENST00000393981.3_Missense_Mutation_p.E235K|KRT15_ENST00000393974.3_Missense_Mutation_p.E235K	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	400	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ATCTCCTGCTCCAGCCGTGTC	0.602																																						uc002hwy.2		NaN																	0					0						c.(1198-1200)GAG>AAG		keratin 15							133.0	114.0	121.0					17																	39671773		2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39671773C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.1198G>A	17.37:g.39671773C>T	ENSP00000254043:p.Glu400Lys					KRT15_uc002hwz.2_Missense_Mutation_p.E302K|KRT15_uc002hxa.2_Missense_Mutation_p.E235K|KRT15_uc002hxb.1_Missense_Mutation_p.E235K	p.E400K	NM_002275	NP_002266	P19012	K1C15_HUMAN			6	1389	-		Breast(137;0.000286)	400			Rod.|Coil 2.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.1198G>A	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	36	5.858278	0.97036	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	4.71	4.71	0.59529	Filament (1);	0.000000	0.49916	D	0.000133	D	0.97455	0.9167	H	0.96142	3.775	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.91635	0.999;0.951;0.951	D	0.98860	1.0762	10	0.87932	D	0	.	17.8736	0.88818	0.0:1.0:0.0:0.0	.	235;400;400	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	K	400;235;400;235	ENSP00000254043:E400K;ENSP00000377544:E235K;ENSP00000377546:E400K;ENSP00000377550:E235K	ENSP00000254043:E400K	E	-	1	0	KRT15	36925299	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.564000	0.82326	2.426000	0.82243	0.655000	0.94253	GAG		0.602	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1		NM_002275		15	158	0	0	0	0.008871	0	15	158		
DNAJC7	7266	broad.mit.edu	37	17	40169363	40169363	+	Silent	SNP	C	C	T	rs531340867		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:40169363C>T	ENST00000457167.4	-	1	308	c.72G>A	c.(70-72)gcG>gcA	p.A24A	NKIRAS2_ENST00000316082.4_5'Flank|NKIRAS2_ENST00000449471.4_5'Flank|DNAJC7_ENST00000426588.3_5'Flank|NKIRAS2_ENST00000393880.1_5'Flank|NKIRAS2_ENST00000393885.4_5'Flank|NKIRAS2_ENST00000393884.2_5'Flank|NKIRAS2_ENST00000462043.2_5'Flank|NKIRAS2_ENST00000479407.1_5'Flank|NKIRAS2_ENST00000307641.5_5'UTR|DNAJC7_ENST00000316603.7_5'UTR|NKIRAS2_ENST00000393881.3_5'Flank|DNAJC7_ENST00000589547.1_5'Flank	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	24					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GTTACCTCTTCGCCTCTTGGT	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		15204	0.001		0.0	False		,,,				2504	0.0				Colon(63;618 1117 8600 10857 19751)	uc002hyo.2		NaN																	0				ovary(1)	1						c.(70-72)GCG>GCA		DnaJ (Hsp40) homolog, subfamily C, member 7							71.0	80.0	77.0					17																	40169363		2078	4200	6278	SO:0001819	synonymous_variant	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40169363C>T	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.72G>A	17.37:g.40169363C>T						DNAJC7_uc010wgb.1_5'Flank|DNAJC7_uc010wgc.1_5'UTR|DNAJC7_uc002hyp.2_5'UTR|DNAJC7_uc010cxw.2_5'Flank|NKIRAS2_uc002hyq.2_5'Flank|NKIRAS2_uc010wgd.1_5'Flank|NKIRAS2_uc002hyr.2_5'Flank|NKIRAS2_uc002hys.2_5'Flank|NKIRAS2_uc010wge.1_5'Flank|NKIRAS2_uc002hyt.2_5'Flank	p.A24A	NM_003315	NP_003306	Q99615	DNJC7_HUMAN			1	309	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)	24					Q7Z784	Silent	SNP	ENST00000457167.4	37	c.72G>A	CCDS45677.1																																																																																				0.652	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2				38	261	0	0	0	0.00361	0	38	261		
NBR1	4077	broad.mit.edu	37	17	41352511	41352511	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:41352511G>T	ENST00000422280.1	+	17	2813	c.2354G>T	c.(2353-2355)gGa>gTa	p.G785V	NBR1_ENST00000590996.1_Missense_Mutation_p.G785V|NBR1_ENST00000341165.6_Missense_Mutation_p.G785V|NBR1_ENST00000542611.1_Missense_Mutation_p.G764V|NBR1_ENST00000389312.4_Missense_Mutation_p.G785V|NBR1_ENST00000589872.1_Missense_Mutation_p.G785V	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	785					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGACTCCCTGGAGGGGAGAAC	0.602																																						uc010czd.2		NaN																	0				skin(1)	1						c.(2353-2355)GGA>GTA		neighbor of BRCA1 gene 1							32.0	30.0	30.0					17																	41352511		1568	3582	5150	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41352511G>T	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.2354G>T	17.37:g.41352511G>T	ENSP00000411250:p.Gly785Val					NBR1_uc010diz.2_Missense_Mutation_p.G785V|NBR1_uc010whu.1_Missense_Mutation_p.G785V|NBR1_uc010whv.1_Missense_Mutation_p.G785V|NBR1_uc010whw.1_Missense_Mutation_p.G764V	p.G785V	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	17	2494	+		Breast(137;0.00086)	785					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.2354G>T	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	G	4.772	0.143483	0.09134	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000537493;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.41758	1.58;0.99;1.58;1.58	5.97	1.43	0.22495	.	.	.	.	.	T	0.28764	0.0713	L	0.36672	1.1	0.20307	N	0.999918	B;B;B	0.29646	0.138;0.253;0.236	B;B;B	0.29353	0.05;0.076;0.101	T	0.20405	-1.0276	9	0.40728	T	0.16	-0.1634	4.2966	0.10904	0.3436:0.3105:0.3459:0.0	.	764;785;785	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	V	785;764;36;785;785;785	ENSP00000411250:G785V;ENSP00000437545:G764V;ENSP00000343479:G785V;ENSP00000373963:G785V	ENSP00000343479:G785V	G	+	2	0	NBR1	38708037	0.015000	0.18098	0.192000	0.23308	0.273000	0.26683	0.344000	0.19962	0.025000	0.15241	0.655000	0.94253	GGA		0.602	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1		NM_005899		12	35	1	0	1.61879e-10	0.001368	1.71401e-10	12	35		
MPP3	4356	broad.mit.edu	37	17	41879098	41879098	+	Missense_Mutation	SNP	G	G	A	rs373244637		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:41879098G>A	ENST00000398389.4	-	20	1894	c.1729C>T	c.(1729-1731)Cac>Tac	p.H577Y	MPP3_ENST00000398393.1_Missense_Mutation_p.H602Y	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	577					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GGTACCCAGTGAGTGTCCTTG	0.522																																						uc002iei.3		NaN																	0				large_intestine(1)|skin(1)	2						c.(1729-1731)CAC>TAC		palmitoylated membrane protein 3		G	TYR/HIS	0,3888		0,0,1944	114.0	110.0	111.0		1729	4.4	1.0	17		111	1,8313		0,1,4156	no	missense	MPP3	NM_001932.4	83	0,1,6100	AA,AG,GG		0.012,0.0,0.0082	benign	577/586	41879098	1,12201	1944	4157	6101	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41879098G>A		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1729C>T	17.37:g.41879098G>A	ENSP00000381425:p.His577Tyr					MPP3_uc002ieh.2_Missense_Mutation_p.H602Y|MPP3_uc002iej.2_RNA	p.H577Y	NM_001932	NP_001923	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	20	1895	-		Breast(137;0.00394)	577					B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1729C>T	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928318	0.34002	0.0	1.2E-4	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.16457	2.34;2.34	5.42	4.45	0.53987	.	0.372260	0.30830	N	0.008794	T	0.12732	0.0309	L	0.39898	1.24	0.09310	N	0.999991	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.19647	-1.0299	10	0.25106	T	0.35	.	7.4795	0.27395	0.1903:0.0:0.8097:0.0	.	577;602	Q13368;D3DX46	MPP3_HUMAN;.	Y	602;577	ENSP00000381430:H602Y;ENSP00000381425:H577Y	ENSP00000381425:H577Y	H	-	1	0	MPP3	39234624	0.999000	0.42202	0.995000	0.50966	0.983000	0.72400	2.215000	0.42862	1.499000	0.48617	0.563000	0.77884	CAC		0.522	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1		NM_001932		20	162	0	0	0	0.00278	0	20	162		
ADAM11	4185	broad.mit.edu	37	17	42850646	42850646	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:42850646C>G	ENST00000200557.6	+	11	1012	c.843C>G	c.(841-843)ctC>ctG	p.L281L	ADAM11_ENST00000535346.1_Silent_p.L81L	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	281	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGGAGCAGCTCAACACTCGCA	0.607																																						uc002ihh.2		NaN																	0				pancreas(1)	1						c.(841-843)CTC>CTG		ADAM metallopeptidase domain 11 preproprotein							116.0	104.0	108.0					17																	42850646		2203	4300	6503	SO:0001819	synonymous_variant	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42850646C>G	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.843C>G	17.37:g.42850646C>G						ADAM11_uc010wjd.1_Silent_p.L81L	p.L281L	NM_002390	NP_002381	O75078	ADA11_HUMAN			11	843	+		Prostate(33;0.0959)	281			Extracellular (Potential).|Peptidase M12B.		Q14808|Q14809|Q14810	Silent	SNP	ENST00000200557.6	37	c.843C>G	CCDS11486.1																																																																																				0.607	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1		NM_002390		23	173	0	0	0	0.007291	0	23	173		
KPNB1	3837	broad.mit.edu	37	17	45747074	45747074	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:45747074G>C	ENST00000290158.4	+	11	1662	c.1255G>C	c.(1255-1257)Gac>Cac	p.D419H	KPNB1_ENST00000537679.1_Missense_Mutation_p.D203H|KPNB1_ENST00000535458.2_Missense_Mutation_p.D274H|KPNB1_ENST00000540627.1_Missense_Mutation_p.D274H	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	419	Ran-GTP binding.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ATTAATGAAAGACCCCAGTGT	0.408																																						uc002ilt.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1255-1257)GAC>CAC		karyopherin beta 1							104.0	106.0	105.0					17																	45747074		2203	4300	6503	SO:0001583	missense	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45747074G>C	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1255G>C	17.37:g.45747074G>C	ENSP00000290158:p.Asp419His					KPNB1_uc010wkw.1_Missense_Mutation_p.D274H|KPNB1_uc010wkx.1_Missense_Mutation_p.D203H	p.D419H	NM_002265	NP_002256	Q14974	IMB1_HUMAN			11	1591	+			419			HEAT 6.|Ran-GTP binding.		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.1255G>C	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878167	0.51801	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.87971	2.92	0.45194	D	0.998201	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.988	D	0.91082	0.4900	9	0.66056	D	0.02	-12.4362	19.3258	0.94261	0.0:0.0:1.0:0.0	.	203;419	F5H4R7;Q14974	.;IMB1_HUMAN	H	274;419;274;203	ENSP00000438253:D274H;ENSP00000290158:D419H;ENSP00000438964:D274H;ENSP00000445006:D203H	ENSP00000290158:D419H	D	+	1	0	KPNB1	43102073	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.778000	0.99011	2.587000	0.87381	0.650000	0.86243	GAC		0.408	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2		NM_002265		15	114	0	0	0	0.012319	0	15	114		
LRRC46	90506	broad.mit.edu	37	17	45909489	45909489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:45909489G>A	ENST00000269025.4	+	2	397	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	MRPL10_ENST00000351111.2_5'Flank|MRPL10_ENST00000290208.7_5'Flank|MRPL10_ENST00000414011.1_5'Flank	NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	12										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGGTCCAGAGGAAGGGGGCGT	0.532																																						uc002ima.2		NaN																	0				ovary(1)	1						c.(34-36)GAA>AAA		leucine rich repeat containing 46							155.0	147.0	150.0					17																	45909489		2203	4300	6503	SO:0001583	missense	90506							g.chr17:45909489G>A		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.34G>A	17.37:g.45909489G>A	ENSP00000269025:p.Glu12Lys					MRPL10_uc010wky.1_5'Flank|MRPL10_uc002ilz.2_5'Flank|MRPL10_uc002ily.2_5'Flank|LRRC46_uc002imb.2_5'UTR	p.E12K	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN			2	290	+			12					A8K9Q0	Missense_Mutation	SNP	ENST00000269025.4	37	c.34G>A	CCDS11518.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408302	0.42715	.	.	ENSG00000141294	ENST00000269025	T	0.74526	-0.85	5.39	-3.19	0.05171	.	0.765366	0.12118	N	0.497925	T	0.48874	0.1524	N	0.14661	0.345	0.21105	N	0.999789	B	0.02656	0.0	B	0.04013	0.001	T	0.28235	-1.0050	10	0.21540	T	0.41	-0.3282	5.9448	0.19213	0.487:0.1355:0.3775:0.0	.	12	Q96FV0	LRC46_HUMAN	K	12	ENSP00000269025:E12K	ENSP00000269025:E12K	E	+	1	0	LRRC46	43264488	0.997000	0.39634	0.779000	0.31741	0.117000	0.20001	0.413000	0.21148	-0.347000	0.08299	-1.036000	0.02392	GAA		0.532	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1		NM_033413		16	155	0	0	0	0.008871	0	16	155		
SCRN2	90507	broad.mit.edu	37	17	45916235	45916235	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:45916235G>C	ENST00000290216.9	-	5	819	c.694C>G	c.(694-696)Ctg>Gtg	p.L232V	SCRN2_ENST00000584123.1_Missense_Mutation_p.L240V|SCRN2_ENST00000407215.3_Missense_Mutation_p.L232V	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	232						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TGCTGGGTCAGGGAGAAGATC	0.662																																						uc002imd.2		NaN																	0				ovary(1)	1						c.(694-696)CTG>GTG		secernin 2 isoform 1							84.0	86.0	85.0					17																	45916235		2203	4300	6503	SO:0001583	missense	90507				proteolysis		dipeptidase activity	g.chr17:45916235G>C	BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.694C>G	17.37:g.45916235G>C	ENSP00000290216:p.Leu232Val					SCRN2_uc002imc.2_Missense_Mutation_p.L240V|SCRN2_uc002imf.2_Missense_Mutation_p.L232V|SCRN2_uc002ime.2_RNA	p.L232V	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN			5	820	-			232					A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	37	c.694C>G	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448101	0.43429	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.07567	3.32;3.18	5.52	3.5	0.40072	.	0.064020	0.64402	D	0.000007	T	0.13372	0.0324	L	0.45137	1.4	0.32486	N	0.540898	D;D;D	0.61080	0.989;0.989;0.989	P;P;P	0.60173	0.87;0.87;0.87	T	0.05920	-1.0856	10	0.11794	T	0.64	-21.1024	8.9244	0.35632	0.2374:0.0:0.7626:0.0	.	232;232;232	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	V	232	ENSP00000290216:L232V;ENSP00000383935:L232V	ENSP00000290216:L232V	L	-	1	2	SCRN2	43271234	0.000000	0.05858	1.000000	0.80357	0.974000	0.67602	0.297000	0.19101	1.314000	0.45095	0.655000	0.94253	CTG		0.662	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1		NM_138355		27	202	0	0	0	0.007291	0	27	202		
IGF2BP1	10642	broad.mit.edu	37	17	47109291	47109291	+	Silent	SNP	G	G	A	rs201903108		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:47109291G>A	ENST00000290341.3	+	5	691	c.357G>A	c.(355-357)acG>acA	p.T119T	IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Silent_p.T119T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	119	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGAGTGAGACGGCAGTGGTGA	0.577											OREG0024529	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		15620	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(198;1041 2123 8248 37119 38268)	uc002iom.2		NaN																	0				kidney(1)	1						c.(355-357)ACG>ACA		insulin-like growth factor 2 mRNA binding							161.0	154.0	157.0					17																	47109291		2203	4300	6503	SO:0001819	synonymous_variant	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47109291G>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.357G>A	17.37:g.47109291G>A			OREG0024529	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	944	IGF2BP1_uc010dbj.2_Silent_p.T119T	p.T119T	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN			5	691	+			119			RRM 2.		C9JT33	Silent	SNP	ENST00000290341.3	37	c.357G>A	CCDS11543.1																																																																																				0.577	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1		NM_006546		53	348	0	0	0	0.00361	0	53	348		
KAT7	11143	broad.mit.edu	37	17	47886483	47886483	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:47886483G>A	ENST00000259021.4	+	6	946	c.666G>A	c.(664-666)gtG>gtA	p.V222V	KAT7_ENST00000435742.2_Intron|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000424009.2_Intron|KAT7_ENST00000503935.2_Silent_p.V66V|KAT7_ENST00000454930.2_Silent_p.V83V|KAT7_ENST00000509773.1_Intron	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	222					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGTTGCAGGTGAGAGCACAGA	0.438																																						uc002ipm.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(664-666)GTG>GTA		MYST histone acetyltransferase 2							127.0	107.0	114.0					17																	47886483		2203	4300	6503	SO:0001819	synonymous_variant	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47886483G>A	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.666G>A	17.37:g.47886483G>A						MYST2_uc002ipl.1_Intron|MYST2_uc010wma.1_Silent_p.V83V|MYST2_uc010wmb.1_Intron|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_Silent_p.V66V|MYST2_uc010wme.1_Intron	p.V222V	NM_007067	NP_008998	O95251	MYST2_HUMAN			6	792	+			222					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Silent	SNP	ENST00000259021.4	37	c.666G>A	CCDS11554.1																																																																																				0.438	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1		NM_007067		7	56	0	0	0	0.00308	0	7	56		
ITGA3	3675	broad.mit.edu	37	17	48155409	48155409	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:48155409G>A	ENST00000320031.8	+	17	2469		c.e17-1		ITGA3_ENST00000007722.7_Splice_Site	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)						blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CCTTGTGGCAGATGGAGCTGC	0.592																																						uc010dbl.2		NaN																	0				ovary(2)|pancreas(1)	3						c.e17-1		integrin alpha 3 isoform a precursor							87.0	78.0	81.0					17																	48155409		2203	4300	6503	SO:0001630	splice_region_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48155409G>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2140-1G>A	17.37:g.48155409G>A						ITGA3_uc010dbm.2_Splice_Site_p.M714_splice	p.M714_splice	NM_002204	NP_002195	P26006	ITA3_HUMAN			17	2604	+								A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Splice_Site	SNP	ENST00000320031.8	37	c.2140_splice	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062352	0.55432	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031;ENST00000506827	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0361	0.89303	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGA3	45510408	1.000000	0.71417	0.997000	0.53966	0.642000	0.38348	7.506000	0.81665	2.569000	0.86673	0.655000	0.94253	.		0.592	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1		NM_005501	Intron	13	158	0	0	0	0.004007	0	13	158		
PPP1R9B	84687	broad.mit.edu	37	17	48218657	48218657	+	Silent	SNP	G	G	C	rs576908550		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:48218657G>C	ENST00000316878.6	-	6	1703	c.1701C>G	c.(1699-1701)ctC>ctG	p.L567L	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	567	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						TGGTGTTCCGGAGCACAGACG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17663	0.0		0.001	False		,,,				2504	0.0					uc002iqh.3		NaN																	0					0						c.(1705-1707)CTC>CTG		protein phosphatase 1, regulatory subunit 9B							38.0	43.0	41.0					17																	48218657		2073	4210	6283	SO:0001819	synonymous_variant	84687				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	g.chr17:48218657G>C	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1701C>G	17.37:g.48218657G>C							p.L569L	NM_032595	NP_115984	Q96SB3	NEB2_HUMAN			6	1710	-			567			PDZ.		Q8TCR9	Silent	SNP	ENST00000316878.6	37	c.1707C>G																																																																																					0.627	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_032595		3	16	0	0	0	0.009096	0	3	16		
TOM1L1	10040	broad.mit.edu	37	17	53014503	53014503	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:53014503C>A	ENST00000575882.1	+	10	1302	c.949C>A	c.(949-951)Ctc>Atc	p.L317I	TOM1L1_ENST00000570371.1_Missense_Mutation_p.L317I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.L310I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.L317I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.L240I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.L317I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.L240I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.L205I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	317					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ATCTCAAGATCTCCTCGACCT	0.433																																						uc002iud.2		NaN																	0				ovary(1)	1						c.(949-951)CTC>ATC		target of myb1-like 1							106.0	105.0	105.0					17																	53014503		2203	4300	6503	SO:0001583	missense	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:53014503C>A	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.949C>A	17.37:g.53014503C>A	ENSP00000460823:p.Leu317Ile					TOM1L1_uc002iuc.2_Missense_Mutation_p.L317I|TOM1L1_uc010dca.1_Missense_Mutation_p.L317I|TOM1L1_uc010wnb.1_Missense_Mutation_p.L310I|TOM1L1_uc010wnc.1_Missense_Mutation_p.L240I|TOM1L1_uc010dbz.2_Missense_Mutation_p.L240I|TOM1L1_uc010wnd.1_Missense_Mutation_p.L205I|TOM1L1_uc010dcb.1_RNA	p.L317I	NM_005486	NP_005477	O75674	TM1L1_HUMAN			10	1124	+			317					Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	c.949C>A	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257136	0.80246	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.52526	1.14;0.66;0.76;0.76	5.22	4.19	0.49359	.	0.000000	0.53938	D	0.000058	T	0.61813	0.2377	M	0.66939	2.045	0.41652	D	0.989134	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.80764	0.948;0.994;0.994;0.994;0.991	T	0.64101	-0.6486	10	0.87932	D	0	-11.3132	7.866	0.29537	0.0:0.8881:0.0:0.1119	.	205;310;240;317;317	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749	.;.;.;TM1L1_HUMAN;.	I	317;205;240;240	ENSP00000408958:L317I;ENSP00000441242:L205I;ENSP00000343901:L240I;ENSP00000443099:L240I	ENSP00000343901:L240I	L	+	1	0	TOM1L1	50369502	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.992000	0.40737	2.714000	0.92807	0.643000	0.83706	CTC		0.433	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2		NM_005486		10	81	1	0	5.16669e-11	0.010729	5.47956e-11	10	81		
SRSF1	6426	broad.mit.edu	37	17	56082931	56082931	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:56082931C>G	ENST00000258962.4	-	4	791	c.583G>C	c.(583-585)Gat>Cat	p.D195H	SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000582730.2_3'UTR|SRSF1_ENST00000584773.1_Missense_Mutation_p.D195H|RP11-159D12.5_ENST00000578794.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	195	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGCCCATCAACTTTAACC	0.463																																						uc002ivi.2		NaN																	0					0						c.(583-585)GAT>CAT		splicing factor, arginine/serine-rich 1 isoform							116.0	115.0	115.0					17																	56082931		2203	4300	6503	SO:0001583	missense	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56082931C>G		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.583G>C	17.37:g.56082931C>G	ENSP00000258962:p.Asp195His					SFRS1_uc002ivj.2_3'UTR	p.D195H	NM_006924	NP_008855	Q07955	SRSF1_HUMAN		LUAD - Lung adenocarcinoma(1115;0.247)	4	792	-		Colorectal(1115;0.0691)	195	Missing: In MR-E; loss of ability to activate splicing.|Missing: In MR-D; loss of ability to activate splicing.|Missing: In MR-A; loss of ability to activate splicing.|Missing: In MR-B; strongly inhibits splicing.		RRM 2.		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	c.583G>C	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357447	0.24598	.	.	ENSG00000136450	ENST00000258962	T	0.19394	2.15	5.65	5.65	0.86999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.366076	0.32244	N	0.006371	T	0.41627	0.1167	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.12041	-1.0563	10	0.72032	D	0.01	.	20.1057	0.97893	0.0:1.0:0.0:0.0	.	195	Q07955	SRSF1_HUMAN	H	195	ENSP00000258962:D195H	ENSP00000258962:D195H	D	-	1	0	SRSF1	53437930	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.339000	0.79282	2.827000	0.97445	0.650000	0.86243	GAT		0.463	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1		NM_006924		7	83	0	0	0	0.006214	0	7	83		
SEPT4	5414	broad.mit.edu	37	17	56606496	56606496	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:56606496C>T	ENST00000317268.3	-	1	216	c.40G>A	c.(40-42)Gag>Aag	p.E14K	RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000412945.3_Intron|SEPT4_ENST00000457347.2_Intron|SEPT4_ENST00000580791.1_5'Flank|SEPT4_ENST00000579371.1_Missense_Mutation_p.E14K|SEPT4_ENST00000580844.1_Missense_Mutation_p.E14K|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000583114.1_5'Flank|SEPT4_ENST00000393086.1_5'Flank|SEPT4_ENST00000580809.1_Intron|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000317256.6_Intron|SEPT4_ENST00000426861.1_Intron	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	14					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTCCTGTCCTCAGGGACAGAA	0.552																																						uc002iwm.1		NaN																	0					0						c.(40-42)GAG>AAG		septin 4 isoform 1							198.0	151.0	167.0					17																	56606496		2203	4300	6503	SO:0001583	missense	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56606496C>T	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.40G>A	17.37:g.56606496C>T	ENSP00000321674:p.Glu14Lys					SEPT4_uc002iwk.1_5'Flank|SEPT4_uc010wnw.1_5'Flank|SEPT4_uc002iwl.1_5'Flank|SEPT4_uc002iwn.1_Missense_Mutation_p.E14K|SEPT4_uc002iwo.1_Intron|SEPT4_uc002iwp.1_Intron|SEPT4_uc010wnx.1_Intron|SEPT4_uc010wny.1_Intron|SEPT4_uc010dcy.1_Intron	p.E14K	NM_004574	NP_004565	O43236	SEPT4_HUMAN			1	168	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		14					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	c.40G>A	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646684	0.47258	.	.	ENSG00000108387	ENST00000317268	T	0.56275	0.47	4.7	4.7	0.59300	.	5.189500	0.00166	N	0.000003	T	0.37732	0.1014	N	0.14661	0.345	0.19775	N	0.99995	P	0.43477	0.808	B	0.30943	0.122	T	0.47328	-0.9126	10	0.42905	T	0.14	.	13.3223	0.60440	0.0:1.0:0.0:0.0	.	14	O43236	SEPT4_HUMAN	K	14	ENSP00000321674:E14K	ENSP00000321674:E14K	E	-	1	0	SEPT4	53961495	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	1.491000	0.35583	2.613000	0.88420	0.561000	0.74099	GAG		0.552	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1		NM_080417		24	132	0	0	0	0.004878	0	24	132		
RNFT1	51136	broad.mit.edu	37	17	58040624	58040624	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:58040624C>G	ENST00000305783.8	-	2	133	c.78G>C	c.(76-78)aaG>aaC	p.K26N	RP11-178C3.2_ENST00000586209.1_lincRNA|RNFT1_ENST00000442346.2_5'UTR|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	26						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			ACCCAGATGTCTTTGCTTCAG	0.433																																						uc002iya.2		NaN																	0					0						c.(76-78)AAG>AAC		PTD016 protein							59.0	62.0	61.0					17																	58040624		2203	4300	6503	SO:0001583	missense	51136					integral to membrane	zinc ion binding	g.chr17:58040624C>G	BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.78G>C	17.37:g.58040624C>G	ENSP00000304670:p.Lys26Asn					uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.K26N|RNFT1_uc002iyd.3_Missense_Mutation_p.K26N	p.K26N	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)		2	171	-	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		26					Q8N7D0|Q96IZ9|Q9Y686	Missense_Mutation	SNP	ENST00000305783.8	37	c.78G>C	CCDS11622.2	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472813	0.26423	.	.	ENSG00000189050	ENST00000305783	T	0.49139	0.79	4.97	1.05	0.20165	.	0.605491	0.13260	U	0.401347	T	0.33323	0.0859	L	0.43152	1.355	0.35897	D	0.830083	B;B;B	0.21225	0.012;0.012;0.053	B;B;B	0.17433	0.018;0.018;0.012	T	0.40040	-0.9584	10	0.45353	T	0.12	.	3.0377	0.06128	0.1722:0.5305:0.1683:0.129	.	26;26;26	B4DHL4;Q5M7Z0-2;Q5M7Z0	.;.;RNFT1_HUMAN	N	26	ENSP00000304670:K26N	ENSP00000304670:K26N	K	-	3	2	RNFT1	55395406	1.000000	0.71417	0.824000	0.32777	0.008000	0.06430	0.696000	0.25541	1.036000	0.39998	0.591000	0.81541	AAG		0.433	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1		NM_016125		11	75	0	0	0	0.001368	0	11	75		
MARCH10	162333	broad.mit.edu	37	17	60814201	60814201	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:60814201G>C	ENST00000311269.5	-	6	1302	c.1028C>G	c.(1027-1029)tCt>tGt	p.S343C	RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.S343C|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000544856.2_Missense_Mutation_p.S342C|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.S381C|RP11-156L14.1_ENST00000579201.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	343					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TCTTCTTGAAGAATGACCTCT	0.458																																						uc010ddr.2		NaN																	0					0						c.(1027-1029)TCT>TGT		ring finger protein 190							80.0	82.0	81.0					17																	60814201		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60814201G>C	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1028C>G	17.37:g.60814201G>C	ENSP00000311496:p.Ser343Cys					MARCH10_uc002jag.3_Missense_Mutation_p.S343C|MARCH10_uc010dds.2_Missense_Mutation_p.S381C|MARCH10_uc002jah.2_Missense_Mutation_p.S342C|uc002jaj.1_RNA|uc002jak.2_RNA	p.S343C	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			6	1266	-			343					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.1028C>G	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	G	3.583	-0.085277	0.07097	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.39592	1.07;1.07;1.07	5.17	5.17	0.71159	.	0.117512	0.39146	N	0.001453	T	0.63651	0.2529	M	0.74881	2.28	0.09310	N	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.95;0.977;0.95	T	0.59322	-0.7476	10	0.87932	D	0	-6.0671	14.1832	0.65588	0.0:0.0:1.0:0.0	.	342;342;343	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	C	343;343;342	ENSP00000416177:S343C;ENSP00000311496:S343C;ENSP00000443746:S342C	ENSP00000311496:S343C	S	-	2	0	MARCH10	58167933	0.014000	0.17966	0.095000	0.20976	0.032000	0.12392	0.815000	0.27253	2.408000	0.81797	0.561000	0.74099	TCT		0.458	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1		NM_152598		16	71	0	0	0	0.00499	0	16	71		
ACE	1636	broad.mit.edu	37	17	61566065	61566065	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:61566065G>A	ENST00000290866.4	+	16	2386	c.2362G>A	c.(2362-2364)Gag>Aag	p.E788K	ACE_ENST00000290863.6_Missense_Mutation_p.E214K|ACE_ENST00000577647.1_Missense_Mutation_p.E214K|ACE_ENST00000428043.1_Missense_Mutation_p.E788K|ACE_ENST00000413513.3_Missense_Mutation_p.E214K|ACE_ENST00000490216.2_Missense_Mutation_p.E214K|ACE_ENST00000421982.2_Missense_Mutation_p.E98K	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	788	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ATGGGCATGGGAGGGCTGGCG	0.562																																						uc002jau.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2362-2364)GAG>AAG		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						122.0	111.0	115.0					17																	61566065		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61566065G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2362G>A	17.37:g.61566065G>A	ENSP00000290866:p.Glu788Lys					ACE_uc002jav.1_Missense_Mutation_p.E214K|ACE_uc010ddv.1_Missense_Mutation_p.E15K|ACE_uc010wpj.1_Missense_Mutation_p.E214K|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.E98K	p.E788K	NM_000789	NP_000780	P12821	ACE_HUMAN			16	2384	+			788			Extracellular (Potential).|Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.2362G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	9.511	1.105738	0.20632	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.93	-2.95	0.05564	.	0.390955	0.32190	N	0.006455	T	0.09598	0.0236	N	0.02865	-0.47	0.22521	N	0.99903	B;B;B;B	0.09022	0.0;0.0;0.002;0.0	B;B;B;B	0.10450	0.005;0.002;0.002;0.002	T	0.33854	-0.9852	10	0.02654	T	1	-22.3264	6.163	0.20373	0.4568:0.3545:0.1887:0.0	.	98;214;214;788	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	K	788;788;214;214;98	ENSP00000290866:E788K;ENSP00000397593:E788K;ENSP00000290863:E214K;ENSP00000392247:E214K;ENSP00000387760:E98K	ENSP00000290863:E214K	E	+	1	0	ACE	58919797	0.993000	0.37304	0.170000	0.22879	0.108000	0.19459	0.357000	0.20199	-0.353000	0.08224	-0.459000	0.05422	GAG		0.562	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2				16	146	0	0	0	0.006122	0	16	146		
MAP3K3	4215	broad.mit.edu	37	17	61767079	61767079	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:61767079G>A	ENST00000361733.3	+	11	1367	c.1047G>A	c.(1045-1047)agG>agA	p.R349R	MAP3K3_ENST00000584573.1_Silent_p.R376R|MAP3K3_ENST00000361357.3_Silent_p.R380R|MAP3K3_ENST00000579585.1_Silent_p.R380R|MAP3K3_ENST00000577395.1_Silent_p.R345R	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	349					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						TGCAGGAGAGGAATGTGCCAA	0.627																																						uc002jbg.2		NaN																	0				lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						c.(1045-1047)AGG>AGA		mitogen-activated protein kinase kinase kinase 3							43.0	37.0	39.0					17																	61767079		2203	4300	6503	SO:0001819	synonymous_variant	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61767079G>A	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1047G>A	17.37:g.61767079G>A						MAP3K3_uc002jbe.2_Silent_p.R380R|MAP3K3_uc002jbf.2_Silent_p.R380R|MAP3K3_uc002jbh.2_Silent_p.R376R|MAP3K3_uc010wpo.1_Silent_p.R264R|MAP3K3_uc010wpp.1_Silent_p.R345R	p.R349R	NM_002401	NP_002392	Q99759	M3K3_HUMAN			11	1366	+			349					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Silent	SNP	ENST00000361733.3	37	c.1047G>A	CCDS32702.1																																																																																				0.627	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1		NM_002401		3	50	0	0	0	0.000602	0	3	50		
CACNG5	27091	broad.mit.edu	37	17	64880760	64880760	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:64880760C>T	ENST00000533854.1	+	5	789	c.552C>T	c.(550-552)atC>atT	p.I184I	CACNG5_ENST00000169565.3_Silent_p.I184I|CACNG5_ENST00000307139.3_Silent_p.I184I			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	184					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TCGCCGCCATCTCCTTCCTTT	0.552																																						uc010wqi.1		NaN																	0				pancreas(1)|skin(1)	2						c.(550-552)ATC>ATT		voltage-dependent calcium channel gamma-5							127.0	113.0	118.0					17																	64880760		2203	4300	6503	SO:0001819	synonymous_variant	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64880760C>T	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.552C>T	17.37:g.64880760C>T						CACNG5_uc002jfr.2_Silent_p.I184I|CACNG5_uc010wqj.1_Silent_p.I184I	p.I184I	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		5	789	+			184			Helical; (Potential).		A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Silent	SNP	ENST00000533854.1	37	c.552C>T	CCDS11665.1																																																																																				0.552	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1		NM_014404, NM_145811		19	108	0	0	0	0.002299	0	19	108		
BPTF	2186	broad.mit.edu	37	17	65925584	65925584	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:65925584G>A	ENST00000321892.4	+	19	6570	c.6509G>A	c.(6508-6510)gGa>gAa	p.G2170E	BPTF_ENST00000335221.5_Missense_Mutation_p.G2170E|BPTF_ENST00000424123.3_Missense_Mutation_p.G2031E|BPTF_ENST00000306378.6_Missense_Mutation_p.G2044E			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2170					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCTCTGGAGGAACCACAAGC	0.398																																						uc002jgf.2		NaN																	0				ovary(2)|skin(2)	4						c.(6130-6132)GGA>GAA		bromodomain PHD finger transcription factor							81.0	68.0	73.0					17																	65925584		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65925584G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.6509G>A	17.37:g.65925584G>A	ENSP00000315454:p.Gly2170Glu					BPTF_uc002jge.2_Missense_Mutation_p.G2170E	p.G2044E	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		17	6192	+	all_cancers(12;6e-11)		2170					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.6131G>A		.	.	.	.	.	.	.	.	.	.	G	6.856	0.527292	0.13066	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.61742	0.15;0.08;0.14	5.96	2.79	0.32731	.	.	.	.	.	T	0.63965	0.2556	L	0.27053	0.805	0.27932	N	0.937847	D;D	0.69078	0.997;0.985	D;P	0.65874	0.939;0.859	T	0.63102	-0.6712	9	0.45353	T	0.12	-11.0984	17.1543	0.86785	0.0:0.3554:0.6446:0.0	.	2044;2170	Q12830-2;Q12830-4	.;.	E	2044;2170;2170	ENSP00000307208:G2044E;ENSP00000334351:G2170E;ENSP00000315454:G2170E	ENSP00000307208:G2044E	G	+	2	0	BPTF	63356046	1.000000	0.71417	0.082000	0.20525	0.215000	0.24574	2.033000	0.41136	0.372000	0.24591	0.655000	0.94253	GGA		0.398	BPTF-201	KNOWN	basic	protein_coding	protein_coding			NM_182641, NM_004459		8	37	0	0	0	0.00308	0	8	37		
SDK2	54549	broad.mit.edu	37	17	71348646	71348646	+	Silent	SNP	G	G	A	rs373715499		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:71348646G>A	ENST00000392650.3	-	41	5724	c.5724C>T	c.(5722-5724)ttC>ttT	p.F1908F	SDK2_ENST00000388726.3_Silent_p.F1889F|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1908	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGGGGTGCCGAAACCATAGT	0.647																																						uc010dfm.2		NaN																	0				ovary(2)	2						c.(5722-5724)TTC>TTT		sidekick 2		G		0,4406		0,0,2203	53.0	45.0	47.0		5724	-8.6	0.5	17		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDK2	NM_001144952.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1908/2173	71348646	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71348646G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5724C>T	17.37:g.71348646G>A						SDK2_uc002jjt.3_Silent_p.F1048F	p.F1908F	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			41	5724	-			1908			Fibronectin type-III 13.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.5724C>T	CCDS45769.1																																																																																				0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2		NM_019064		3	42	0	0	0	0.000602	0	3	42		
KIF19	124602	broad.mit.edu	37	17	72348427	72348427	+	Missense_Mutation	SNP	G	G	A	rs201135489	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:72348427G>A	ENST00000389916.4	+	14	2066	c.1928G>A	c.(1927-1929)gGc>gAc	p.G643D	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	643					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTGGAGGAGGGCAGCCTGGAG	0.672													G|||	4	0.000798722	0.0	0.0	5008	,	,		16960	0.004		0.0	False		,,,				2504	0.0					uc002jkm.3		NaN																	0					0						c.(1927-1929)GGC>GAC		kinesin family member 19							21.0	26.0	24.0					17																	72348427		1965	4131	6096	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72348427G>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1928G>A	17.37:g.72348427G>A	ENSP00000374566:p.Gly643Asp					KIF19_uc002jkl.2_Missense_Mutation_p.G601D	p.G643D	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			14	2066	+			643					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.1928G>A	CCDS32718.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	18.63	3.665254	0.67700	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74421	-0.84;-0.51	5.14	4.16	0.48862	.	.	.	.	.	T	0.77336	0.4115	L	0.61218	1.895	0.41498	D	0.988267	B;P	0.51351	0.342;0.944	B;P	0.52957	0.299;0.714	T	0.75243	-0.3386	9	0.30078	T	0.28	.	12.037	0.53431	0.0861:0.0:0.9139:0.0	.	643;601	Q2TAC6;F8VW50	KIF19_HUMAN;.	D	601;643	ENSP00000449134:G601D;ENSP00000374566:G643D	ENSP00000374566:G643D	G	+	2	0	KIF19	69860022	1.000000	0.71417	0.935000	0.37517	0.980000	0.70556	3.355000	0.52262	2.404000	0.81709	0.456000	0.33151	GGC		0.672	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2		NM_153209		4	44	0	0	0	0.009096	0	4	44		
GRIN2C	2905	broad.mit.edu	37	17	72846450	72846450	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:72846450G>C	ENST00000293190.5	-	6	1532	c.1386C>G	c.(1384-1386)ctC>ctG	p.L462L	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Silent_p.L462L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	462					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCAGCTTCTTGAGGATGTCGA	0.592																																						uc002jlt.1		NaN																	0				ovary(2)|breast(2)	4						c.(1384-1386)CTC>CTG		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						143.0	130.0	134.0					17																	72846450		2203	4300	6503	SO:0001819	synonymous_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72846450G>C		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1386C>G	17.37:g.72846450G>C						GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.L462L	p.L462L	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			6	1542	-	all_lung(278;0.172)|Lung NSC(278;0.207)		462			Extracellular (Potential).		B2RTT1	Silent	SNP	ENST00000293190.5	37	c.1386C>G	CCDS32724.1																																																																																				0.592	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1				30	305	0	0	0	0.003755	0	30	305		
FDXR	2232	broad.mit.edu	37	17	72859310	72859310	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:72859310C>T	ENST00000293195.5	-	11	1311	c.1233G>A	c.(1231-1233)atG>atA	p.M411I	FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000544854.1_Missense_Mutation_p.M359I|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000413947.2_Missense_Mutation_p.M442I|FDXR_ENST00000581530.1_Missense_Mutation_p.M417I|GRIN2C_ENST00000347612.4_5'Flank|FDXR_ENST00000420580.2_Missense_Mutation_p.M371I|FDXR_ENST00000442102.2_Missense_Mutation_p.M454I|FDXR_ENST00000582944.1_Missense_Mutation_p.M403I|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000583917.1_Missense_Mutation_p.M383I	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	411					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	AGCTGTCAGTCATGGTTGTGG	0.632																																						uc002jly.2		NaN																	0					0						c.(1231-1233)ATG>ATA		ferredoxin reductase isoform 1 precursor							56.0	47.0	50.0					17																	72859310		2202	4300	6502	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72859310C>T	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1233G>A	17.37:g.72859310C>T	ENSP00000293195:p.Met411Ile					GRIN2C_uc002jlu.1_5'Flank|GRIN2C_uc002jlv.1_5'Flank|FDXR_uc010wri.1_Missense_Mutation_p.M359I|FDXR_uc010wrj.1_Missense_Mutation_p.M409I|FDXR_uc002jlw.2_Missense_Mutation_p.M168I|FDXR_uc002jlx.2_Missense_Mutation_p.M417I|FDXR_uc002jmc.2_Missense_Mutation_p.M383I|FDXR_uc010wrk.1_Missense_Mutation_p.M442I|FDXR_uc010wrl.1_Missense_Mutation_p.M454I|FDXR_uc002jma.2_Missense_Mutation_p.M412I|FDXR_uc010wrm.1_Missense_Mutation_p.M371I|FDXR_uc002jlz.2_Missense_Mutation_p.M403I|FDXR_uc002jmb.2_RNA	p.M411I	NM_024417	NP_077728	P22570	ADRO_HUMAN			11	1320	-	all_lung(278;0.172)|Lung NSC(278;0.207)		411					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.1233G>A	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937286	0.92458	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000442102;ENST00000413947	T;T;T;T	0.21361	2.09;2.95;2.01;2.01	4.88	4.88	0.63580	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.47764	0.1463	M	0.76574	2.34	0.80722	D	1	D;D;D;D;P;D;B;D;B;D	0.71674	0.97;0.998;0.997;0.979;0.688;0.976;0.412;0.988;0.412;0.998	P;D;D;P;B;P;B;P;B;D	0.71414	0.78;0.966;0.94;0.794;0.401;0.872;0.366;0.878;0.366;0.973	T	0.52555	-0.8560	10	0.72032	D	0.01	-40.0663	17.6349	0.88119	0.0:1.0:0.0:0.0	.	371;454;442;409;359;442;411;403;411;417	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	I	371;359;417;454;442	ENSP00000414172:M371I;ENSP00000445432:M359I;ENSP00000416515:M454I;ENSP00000408595:M442I	ENSP00000293195:M417I	M	-	3	0	FDXR	70370905	1.000000	0.71417	0.965000	0.40720	0.913000	0.54294	7.052000	0.76634	2.260000	0.74910	0.462000	0.41574	ATG		0.632	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1		NM_004110		5	54	0	0	0	0.001984	0	5	54		
SUMO2	6613	broad.mit.edu	37	17	73164461	73164461	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:73164461G>C	ENST00000578238.1	-	4	421	c.132C>G	c.(130-132)ttC>ttG	p.F44L	SUMO2_ENST00000420826.2_Missense_Mutation_p.F87L|SUMO2_ENST00000314523.7_Missense_Mutation_p.F63L|RP11-649A18.7_ENST00000580169.1_lincRNA					small ubiquitin-like modifier 2											NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					TCTGCTGTTGGAACACATCAA	0.353																																						uc002jne.2		NaN																	0					0						c.(259-261)TTC>TTG		SMT3 suppressor of mif two 3 homolog 2 isoform a							58.0	52.0	54.0					17																	73164461		1879	4142	6021	SO:0001583	missense	6613				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding	g.chr17:73164461G>C		CCDS45773.1, CCDS45774.1	17q25	2013-06-05	2013-06-05	2004-05-19	ENSG00000188612	ENSG00000188612			11125	protein-coding gene	gene with protein product		603042	"""SMT3 (suppressor of mif two 3, yeast) homolog 2"", ""SMT3 suppressor of mif two 3 homolog 2 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae)"""	SMT3H2		8630065	Standard	NM_006937		Approved	SMT3B	uc002jne.3	P61956		ENST00000578238.1:c.132C>G	17.37:g.73164461G>C	ENSP00000461997:p.Phe44Leu					SUMO2_uc002jnf.2_Missense_Mutation_p.F63L	p.F87L	NM_006937	NP_008868	P61956	SUMO2_HUMAN			4	430	-	all_lung(278;0.14)|Lung NSC(278;0.168)		87			Ubiquitin-like.			Missense_Mutation	SNP	ENST00000578238.1	37	c.261C>G		.	.	.	.	.	.	.	.	.	.	G	12.83	2.056375	0.36277	.	.	ENSG00000188612	ENST00000420826;ENST00000314523	T;T	0.20738	2.05;2.05	5.69	4.62	0.57501	Ubiquitin supergroup (1);Ubiquitin (1);	.	.	.	.	T	0.21921	0.0528	.	.	.	0.42849	D	0.99407	B;B	0.17667	0.023;0.003	B;B	0.23852	0.049;0.026	T	0.03095	-1.1073	8	0.52906	T	0.07	-11.1739	14.6118	0.68522	0.075:0.0:0.925:0.0	.	63;87	F2Z3D0;P61956	.;SUMO2_HUMAN	L	87;63	ENSP00000405965:F87L;ENSP00000400886:F63L	ENSP00000400886:F63L	F	-	3	2	SUMO2	70676056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.280000	0.51677	1.386000	0.46466	0.650000	0.86243	TTC		0.353	SUMO2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000446616.1		NM_006937		2	11	0	0	0	0.009096	0	2	11		
RECQL5	9400	broad.mit.edu	37	17	73663485	73663485	+	5'Flank	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:73663485C>G	ENST00000317905.5	-	0	0				RECQL5_ENST00000423245.2_5'Flank|SAP30BP_ENST00000355423.3_Silent_p.L11L|RECQL5_ENST00000420326.2_5'Flank|RECQL5_ENST00000340830.5_5'Flank|SAP30BP_ENST00000584667.1_Silent_p.L11L|RECQL5_ENST00000584999.1_5'Flank|SAP30BP_ENST00000579864.1_3'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGTCGTCTCTCGCAGTTTACG	0.607								Other identified genes with known or suspected DNA repair function																														uc002jpe.2		NaN																	0				ovary(1)	1						c.(31-33)CTC>CTG		transcriptional regulator protein							76.0	75.0	76.0					17																	73663485		2203	4300	6503	SO:0001631	upstream_gene_variant	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73663485C>G	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762			17.37:g.73663485C>G	Exception_encountered					RECQL5_uc010dgk.2_5'Flank|RECQL5_uc010dgl.2_5'Flank|RECQL5_uc002jpb.1_5'Flank|RECQL5_uc002joz.3_5'Flank|RECQL5_uc002jpa.3_5'Flank|SAP30BP_uc010dgm.1_Silent_p.L11L|SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Silent_p.L11L	p.L11L	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		1	87	+	all_cancers(13;6.42e-08)		11					Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	c.33C>G	CCDS42380.1																																																																																				0.607	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		NM_004259		12	73	0	0	0	0.006122	0	12	73		
ITGB4	3691	broad.mit.edu	37	17	73753570	73753570	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:73753570G>C	ENST00000200181.3	+	40	5590	c.5403G>C	c.(5401-5403)gtG>gtC	p.V1801V	GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Silent_p.V1731V|ITGB4_ENST00000449880.2_Silent_p.V1784V|ITGB4_ENST00000339591.3_Silent_p.V1784V|ITGB4_ENST00000450894.3_Silent_p.V1731V	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1801					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGAGTTTGTGAGCCGGACAC	0.637																																						uc002jpg.2		NaN																	0				lung(4)	4						c.(5401-5403)GTG>GTC		integrin beta 4 isoform 1 precursor							75.0	70.0	72.0					17																	73753570		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73753570G>C		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.5403G>C	17.37:g.73753570G>C						ITGB4_uc002jph.2_Silent_p.V1731V|ITGB4_uc002jpi.3_Silent_p.V1731V|ITGB4_uc002jpj.2_Silent_p.V1784V|GALK1_uc010wsi.1_Intron	p.V1801V	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		40	5590	+	all_cancers(13;1.5e-07)		1801			Cytoplasmic (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.5403G>C	CCDS11727.1																																																																																				0.637	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1				24	143	0	0	0	0.00632	0	24	143		
TRIM47	91107	broad.mit.edu	37	17	73872363	73872363	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:73872363C>T	ENST00000254816.2	-	3	1008	c.982G>A	c.(982-984)Gac>Aac	p.D328N	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Missense_Mutation_p.D90N	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	328						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGACTGAGTCAGCTTCAGGG	0.662																																						uc002jpw.2		NaN																	0				ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(982-984)GAC>AAC		tripartite motif-containing 47							13.0	15.0	14.0					17																	73872363		2185	4275	6460	SO:0001583	missense	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73872363C>T	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.982G>A	17.37:g.73872363C>T	ENSP00000254816:p.Asp328Asn					TRIM47_uc002jpv.2_Missense_Mutation_p.D90N	p.D328N	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		3	1009	-			328					Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	ENST00000254816.2	37	c.982G>A	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716385	0.89205	.	.	ENSG00000132481	ENST00000254816	T	0.59083	0.29	4.73	4.73	0.59995	.	0.000000	0.56097	D	0.000033	T	0.65333	0.2681	L	0.27053	0.805	0.34860	D	0.742573	D	0.89917	1.0	D	0.83275	0.996	T	0.75593	-0.3264	10	0.87932	D	0	.	16.0602	0.80834	0.0:1.0:0.0:0.0	.	328	Q96LD4	TRI47_HUMAN	N	328	ENSP00000254816:D328N	ENSP00000254816:D328N	D	-	1	0	TRIM47	71383958	0.902000	0.30710	0.923000	0.36655	0.852000	0.48524	1.700000	0.37815	2.461000	0.83175	0.561000	0.74099	GAC		0.662	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1				10	26	0	0	0	0.001855	0	10	26		
EVPL	2125	broad.mit.edu	37	17	74005809	74005809	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:74005809G>A	ENST00000301607.3	-	22	3730	c.3477C>T	c.(3475-3477)ctC>ctT	p.L1159L	EVPL_ENST00000586740.1_Silent_p.L1181L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1159	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTCCTCCTCGAGGAGGCTCC	0.627																																						uc002jqi.2		NaN																	0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(3475-3477)CTC>CTT		envoplakin							41.0	39.0	40.0					17																	74005809		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005809G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3477C>T	17.37:g.74005809G>A						EVPL_uc010wss.1_Silent_p.L1181L|EVPL_uc010wst.1_Silent_p.L629L	p.L1159L	NM_001988	NP_001979	Q92817	EVPL_HUMAN			22	3705	-			1159			Central fibrous rod domain.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.3477C>T	CCDS11737.1																																																																																				0.627	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1		NM_001988		4	63	0	0	0	0.009096	0	4	63		
TNRC6C	57690	broad.mit.edu	37	17	76047219	76047219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:76047219G>A	ENST00000588061.1	+	5	2803	c.2076G>A	c.(2074-2076)tgG>tgA	p.W692*	TNRC6C_ENST00000541771.1_Nonsense_Mutation_p.W692*|TNRC6C_ENST00000588847.1_Nonsense_Mutation_p.W692*|TNRC6C_ENST00000544502.1_Nonsense_Mutation_p.W692*|TNRC6C_ENST00000301624.4_Nonsense_Mutation_p.W692*|TNRC6C_ENST00000335749.4_Nonsense_Mutation_p.W692*			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	692	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAACAGGGTGGATCGGGGGGC	0.542																																						uc002jud.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2074-2076)TGG>TGA		trinucleotide repeat containing 6C isoform 2							25.0	27.0	26.0					17																	76047219		1899	4099	5998	SO:0001587	stop_gained	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76047219G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2076G>A	17.37:g.76047219G>A	ENSP00000468647:p.Trp692*					TNRC6C_uc002juf.2_Nonsense_Mutation_p.W692*|TNRC6C_uc002jue.2_Nonsense_Mutation_p.W692*	p.W692*	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		4	2676	+			692			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Nonsense_Mutation	SNP	ENST00000588061.1	37	c.2076G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	44	10.851269	0.99477	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0523	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	X	692	.	ENSP00000301624:W692X	W	+	3	0	TNRC6C	73558814	1.000000	0.71417	0.978000	0.43139	0.645000	0.38454	7.573000	0.82421	2.894000	0.99253	0.655000	0.94253	TGG		0.542	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1		NM_018996		7	19	0	0	0	0.00308	0	7	19		
TNRC6C	57690	broad.mit.edu	37	17	76089176	76089176	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:76089176C>T	ENST00000588061.1	+	17	4860	c.4133C>T	c.(4132-4134)tCa>tTa	p.S1378L	TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1378L|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1375L|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1375L|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1378L|TNRC6C_ENST00000335749.4_Missense_Mutation_p.S1375L			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1378	Required for interaction with PABPC1.|Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GATAAAATCTCAAATGGCTCT	0.512																																						uc002jud.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(4132-4134)TCA>TTA		trinucleotide repeat containing 6C isoform 2							62.0	59.0	60.0					17																	76089176		1999	4189	6188	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76089176C>T	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4133C>T	17.37:g.76089176C>T	ENSP00000468647:p.Ser1378Leu					TNRC6C_uc002juf.2_Missense_Mutation_p.S1375L	p.S1378L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		16	4733	+			1378			Sufficient for translational repression when tethered to a target mRNA.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.4133C>T	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610366	0.96637	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16073	2.41;2.37;2.37;2.41	5.97	5.97	0.96955	.	0.062487	0.64402	D	0.000003	T	0.43122	0.1233	M	0.61703	1.905	0.80722	D	1	D;D	0.63046	0.992;0.992	D;P	0.75020	0.985;0.873	T	0.09684	-1.0663	10	0.72032	D	0.01	-11.3293	20.4062	0.99009	0.0:1.0:0.0:0.0	.	1375;1378	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	L	1378;1375;1375;1378;1378;1375	ENSP00000336783:S1375L;ENSP00000301624:S1378L;ENSP00000440310:S1378L;ENSP00000442421:S1375L	ENSP00000301624:S1378L	S	+	2	0	TNRC6C	73600771	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	7.382000	0.79729	2.831000	0.97527	0.655000	0.94253	TCA		0.512	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1		NM_018996		5	49	0	0	0	0.001984	0	5	49		
TMC6	11322	broad.mit.edu	37	17	76113906	76113906	+	Silent	SNP	G	G	C	rs376249338		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:76113906G>C	ENST00000590602.1	-	16	2157	c.1998C>G	c.(1996-1998)gtC>gtG	p.V666V	TMC6_ENST00000591436.1_Silent_p.V245V|TMC6_ENST00000322914.3_Silent_p.V666V|TMC6_ENST00000392467.3_Silent_p.V666V|TMC6_ENST00000322933.4_Silent_p.V245V|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000592076.1_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	666					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCAGAGGAAGACAGCGGCGC	0.687																																						uc002juj.1		NaN																	0					0						c.(1996-1998)GTC>GTG		transmembrane channel-like 6		G	,	1,4395		0,1,2197	30.0	27.0	28.0		1998,1998	0.6	0.9	17		28	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	TMC6	NM_001127198.1,NM_007267.6	,	0,1,6494	CC,CG,GG		0.0,0.0227,0.0077	,	666/806,666/806	76113906	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	11322	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76113906G>C	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1998C>G	17.37:g.76113906G>C						TMC6_uc002jui.1_Silent_p.V245V|TMC6_uc010dhf.1_Silent_p.V499V|TMC6_uc002juk.2_Silent_p.V666V|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.V666V	p.V666V	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		15	2124	-			666			Helical; (Potential).		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	ENST00000590602.1	37	c.1998C>G	CCDS32748.1																																																																																				0.687	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1				5	27	0	0	0	0.00308	0	5	27		
DNAH17	8632	broad.mit.edu	37	17	76540022	76540022	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:76540022C>T	ENST00000585328.1	-	17	2573	c.2449G>A	c.(2449-2451)Gac>Aac	p.D817N	DNAH17_ENST00000389840.5_Missense_Mutation_p.D817N	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	817	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCATCCAAGTCTAACAGGGCC	0.502																																						uc002jvv.1		NaN																	0				ovary(6)|breast(2)|skin(1)	9						c.(1555-1557)GAC>AAC		RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;							239.0	221.0	227.0					17																	76540022		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76540022C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2449G>A	17.37:g.76540022C>T	ENSP00000465516:p.Asp817Asn						p.D519N					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		13	1661	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1555G>A		.	.	.	.	.	.	.	.	.	.	c	8.981	0.975318	0.18736	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.23950	1.88	5.26	5.26	0.73747	.	3.274710	0.01297	U	0.010180	T	0.20981	0.0505	N	0.08118	0	0.32550	N	0.532481	B	0.10296	0.003	B	0.20955	0.032	T	0.08994	-1.0695	10	0.26408	T	0.33	.	15.7857	0.78300	0.0:1.0:0.0:0.0	.	519	Q9UFH2-4	.	N	817	ENSP00000374490:D817N	ENSP00000300671:D817N	D	-	1	0	DNAH17	74051617	0.998000	0.40836	0.736000	0.30914	0.332000	0.28634	4.883000	0.63128	2.436000	0.82500	0.551000	0.68910	GAC		0.502	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628		22	125	0	0	0	0.00278	0	22	125		
CHMP6	79643	broad.mit.edu	37	17	78971126	78971126	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:78971126G>A	ENST00000325167.5	+	6	558	c.480G>A	c.(478-480)ctG>ctA	p.L160L	CTD-2561B21.7_ENST00000576215.1_RNA|CTD-2561B21.7_ENST00000577061.2_RNA	NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	160					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein N-terminus binding (GO:0047485)			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGGAGGAGCTGAGCGCAATCA	0.632																																						uc002jyw.3		NaN																	0				ovary(1)	1						c.(478-480)CTG>CTA		chromatin modifying protein 6							40.0	36.0	37.0					17																	78971126		2203	4300	6503	SO:0001819	synonymous_variant	79643				cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding	g.chr17:78971126G>A	BC010108	CCDS11774.1	17q25.3	2014-08-13	2011-09-21		ENSG00000176108	ENSG00000176108		"""Charged multivesicular body proteins"""	25675	protein-coding gene	gene with protein product		610901	"""chromatin modifying protein 6"""			11559748, 15511219	Standard	NM_024591		Approved	FLJ11749, VPS20	uc002jyw.4	Q96FZ7	OTTHUMG00000177645	ENST00000325167.5:c.480G>A	17.37:g.78971126G>A							p.L160L	NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		6	558	+	all_neural(118;0.101)		160					A8K7U0|Q53FU4|Q9HAE8	Silent	SNP	ENST00000325167.5	37	c.480G>A	CCDS11774.1																																																																																				0.632	CHMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438215.1		NM_024591		5	32	0	0	0	0.001168	0	5	32		
ACTG1	71	broad.mit.edu	37	17	79479015	79479015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:79479015C>A	ENST00000575842.1	-	2	703	c.277G>T	c.(277-279)Gag>Tag	p.E93*	AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Nonsense_Mutation_p.E93*|ACTG1_ENST00000573283.1_Nonsense_Mutation_p.E93*|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000331925.2_Nonsense_Mutation_p.E93*			P63261	ACTG_HUMAN	actin, gamma 1	93					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			ACGCGCAGCTCGTTGTAGAAG	0.617																																						uc002kaj.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(277-279)GAG>TAG		actin, gamma 1 propeptide							56.0	60.0	59.0					17																	79479015		2202	4300	6502	SO:0001587	stop_gained	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79479015C>A		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.277G>T	17.37:g.79479015C>A	ENSP00000458162:p.Glu93*					ACTG1_uc002kah.1_5'Flank|ACTG1_uc002kai.1_Nonsense_Mutation_p.E50*|ACTG1_uc002kak.1_Nonsense_Mutation_p.E93*|ACTG1_uc010wun.1_Nonsense_Mutation_p.E93*|ACTG1_uc002kal.1_Nonsense_Mutation_p.E93*|ACTG1_uc002kag.2_RNA	p.E93*	NM_001614	NP_001605	P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		2	302	-	all_neural(118;0.0878)|Melanoma(429;0.242)		93					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Nonsense_Mutation	SNP	ENST00000575842.1	37	c.277G>T	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325820	0.81580	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	.	.	.	3.99	3.99	0.46301	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0358	0.71744	0.0:1.0:0.0:0.0	.	.	.	.	X	93	.	ENSP00000331514:E93X	E	-	1	0	ACTG1	77093610	1.000000	0.71417	0.989000	0.46669	0.009000	0.06853	7.227000	0.78070	2.066000	0.61787	0.563000	0.77884	GAG		0.617	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2		NM_001614		25	113	1	0	1.30897e-18	0.009535	1.41134e-18	25	113		
OXLD1	339229	broad.mit.edu	37	17	79632293	79632293	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:79632293C>G	ENST00000374741.3	-	2	392	c.382G>C	c.(382-384)Gat>Cat	p.D128H	OXLD1_ENST00000571503.1_3'UTR|OXLD1_ENST00000573786.1_5'UTR|PDE6G_ENST00000571224.1_5'Flank|CCDC137_ENST00000329214.8_5'Flank|PDE6G_ENST00000574777.1_5'Flank	NM_001039842.1	NP_001034931.1	Q5BKU9	OXLD1_HUMAN	oxidoreductase-like domain containing 1	128						mitochondrion (GO:0005739)											AGGTTCTCATCAGCCACGTGC	0.667																																						uc002kba.2		NaN																	0					0						c.(382-384)GAT>CAT		hypothetical protein LOC339229							44.0	43.0	43.0					17																	79632293		2203	4300	6503	SO:0001583	missense	339229							g.chr17:79632293C>G		CCDS32766.1	17q25.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000204237	ENSG00000204237			27901	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 90"""	C17orf90			Standard	NM_001039842		Approved	MGC104712	uc002kba.3	Q5BKU9	OTTHUMG00000178063	ENST00000374741.3:c.382G>C	17.37:g.79632293C>G	ENSP00000363873:p.Asp128His					C17orf90_uc002kbb.2_3'UTR|CCDC137_uc002kbc.3_5'Flank|CCDC137_uc002kbd.2_5'Flank	p.D128H	NM_001039842	NP_001034931	Q5BKU9	CQ090_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	393	-	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		128					A6ND24	Missense_Mutation	SNP	ENST00000374741.3	37	c.382G>C	CCDS32766.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209556	0.79240	.	.	ENSG00000204237	ENST00000374741	.	.	.	5.19	5.19	0.71726	.	0.000000	0.41001	D	0.000961	D	0.83792	0.5331	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86382	0.1730	9	0.87932	D	0	-19.9037	18.6919	0.91586	0.0:1.0:0.0:0.0	.	128	Q5BKU9	CQ090_HUMAN	H	128	.	ENSP00000363873:D128H	D	-	1	0	C17orf90	77242698	1.000000	0.71417	0.697000	0.30258	0.318000	0.28184	7.085000	0.76875	2.418000	0.82041	0.655000	0.94253	GAT		0.667	OXLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440380.1		NM_001039842		8	93	0	0	0	0.004482	0	8	93		
P4HB	5034	broad.mit.edu	37	17	79817199	79817199	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:79817199C>T	ENST00000331483.4	-	2	432	c.210G>A	c.(208-210)ctG>ctA	p.L70L	P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000439918.2_Silent_p.L70L|P4HB_ENST00000576390.1_Silent_p.L70L	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	70	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CTTCTGCCTTCAGCTTCCCAG	0.602																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1		NaN																	0					0						c.(208-210)CTG>CTA		prolyl 4-hydroxylase, beta subunit precursor							137.0	123.0	128.0					17																	79817199		2203	4296	6499	SO:0001819	synonymous_variant	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79817199C>T	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.210G>A	17.37:g.79817199C>T						P4HB_uc002kbm.1_5'UTR	p.L70L	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		2	407	-	all_neural(118;0.0878)|Ovarian(332;0.12)		70			Thioredoxin 1.		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Silent	SNP	ENST00000331483.4	37	c.210G>A	CCDS11787.1																																																																																				0.602	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3		NM_000918		23	160	0	0	0	0.004656	0	23	160		
RAB40B	10966	broad.mit.edu	37	17	80616443	80616443	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:80616443G>A	ENST00000571995.1	-	5	620	c.489C>T	c.(487-489)atC>atT	p.I163I	RAB40B_ENST00000538809.2_Intron|RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000571880.1_5'Flank	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	163					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ACGACTCTGTGATGTTGAAAT	0.657																																						uc002kft.2		NaN																	0				central_nervous_system(1)	1						c.(487-489)ATC>ATT		RAB40B, member RAS oncogene family							71.0	71.0	71.0					17																	80616443		2203	4300	6503	SO:0001819	synonymous_variant	10966				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr17:80616443G>A	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"""RAB, member RAS oncogene"""	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.489C>T	17.37:g.80616443G>A						RAB40B_uc002kfs.2_RNA	p.I163I	NM_006822	NP_006813	Q12829	RB40B_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		5	615	-	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	163					Q8WVG3	Silent	SNP	ENST00000571995.1	37	c.489C>T	CCDS11816.1																																																																																				0.657	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1				7	183	0	0	0	0.001984	0	7	183		
MYOM1	8736	broad.mit.edu	37	18	3131437	3131437	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:3131437G>C	ENST00000356443.4	-	17	2775	c.2442C>G	c.(2440-2442)gtC>gtG	p.V814V	MYOM1_ENST00000400569.3_Silent_p.V814V|MYOM1_ENST00000261606.7_Silent_p.V814V|MYOM1_ENST00000582016.1_5'Flank	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	814	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGCTGCATTGACTGCTCTGA	0.378																																						uc002klp.2		NaN																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2440-2442)GTC>GTG		myomesin 1 isoform a							89.0	80.0	83.0					18																	3131437		1843	4102	5945	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3131437G>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2442C>G	18.37:g.3131437G>C						MYOM1_uc002klq.2_Silent_p.V814V	p.V814V	NM_003803	NP_003794	P52179	MYOM1_HUMAN			17	2776	-			814			Fibronectin type-III 3.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.2442C>G	CCDS45824.1																																																																																				0.378	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2		NM_003803		6	25	0	0	0	0.00308	0	6	25		
ARHGAP28	79822	broad.mit.edu	37	18	6896547	6896547	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:6896547C>G	ENST00000383472.4	+	16	2056	c.1952C>G	c.(1951-1953)tCc>tGc	p.S651C	ARHGAP28_ENST00000531294.1_Missense_Mutation_p.S487C|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.S492C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.S599C|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.S492C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.S651C|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.S492C|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.S474C			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	651					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CCACTTCTCTCCAAGGTGTCC	0.443																																						uc010wzi.1		NaN																	0				pancreas(1)	1						c.(1420-1422)TCC>TGC		SubName: Full=Putative uncharacterized protein ARHGAP28;							130.0	109.0	116.0					18																	6896547		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6896547C>G	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1952C>G	18.37:g.6896547C>G	ENSP00000372964:p.Ser651Cys					ARHGAP28_uc002knc.2_Missense_Mutation_p.S599C|ARHGAP28_uc002knd.2_Missense_Mutation_p.S492C|ARHGAP28_uc002kne.2_Missense_Mutation_p.S492C|ARHGAP28_uc002knf.2_Missense_Mutation_p.S483C	p.S474C			B4DXL2	B4DXL2_HUMAN			15	1659	+		Colorectal(10;0.168)	474					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.1421C>G		.	.	.	.	.	.	.	.	.	.	C	20.9	4.061746	0.76187	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.09630	3.13;3.09;3.05;3.05;3.05;2.96	5.16	5.16	0.70880	.	0.232714	0.44688	D	0.000424	T	0.32763	0.0840	M	0.70595	2.14	0.45648	D	0.998578	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.71414	0.948;0.94;0.973;0.973	T	0.02081	-1.1217	10	0.49607	T	0.09	.	17.4233	0.87520	0.0:1.0:0.0:0.0	.	651;483;492;599	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	C	651;599;492;487;492;492;483;474	ENSP00000382963:S651C;ENSP00000262227:S599C;ENSP00000392660:S492C;ENSP00000437262:S487C;ENSP00000313506:S492C;ENSP00000406907:S492C	ENSP00000262227:S599C	S	+	2	0	ARHGAP28	6886547	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	6.354000	0.73036	2.402000	0.81655	0.561000	0.74099	TCC		0.443	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3		XM_371108		13	67	0	0	0	0.003163	0	13	67		
LAMA3	3909	broad.mit.edu	37	18	21355773	21355773	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:21355773G>A	ENST00000313654.9	+	10	1532	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E431K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	431	Domain V.|Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CTGTGACCCTGAGCATGCGGA	0.483																																						uc002kuq.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(1291-1293)GAG>AAG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						68.0	66.0	67.0					18																	21355773		2003	4173	6176	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21355773G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1291G>A	18.37:g.21355773G>A	ENSP00000324532:p.Glu431Lys					LAMA3_uc010dlv.1_Missense_Mutation_p.E431K|LAMA3_uc002kur.2_Missense_Mutation_p.E431K	p.E431K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			10	1377	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		431			Laminin EGF-like 3.|Domain V.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1291G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478337	0.63849	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.61274	0.12;0.12	4.96	4.96	0.65561	EGF-like, laminin (3);	.	.	.	.	T	0.65375	0.2685	L	0.56280	1.765	0.80722	D	1	P;P;D	0.53462	0.928;0.955;0.96	B;P;P	0.59546	0.441;0.755;0.859	T	0.58945	-0.7546	9	0.07325	T	0.83	.	17.1424	0.86757	0.0:0.0:1.0:0.0	.	431;431;431	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	K	431;431;429;431	ENSP00000324532:E431K;ENSP00000382432:E431K	ENSP00000324532:E431K	E	+	1	0	LAMA3	19609771	0.326000	0.24669	0.799000	0.32177	0.952000	0.60782	2.494000	0.45329	2.591000	0.87537	0.591000	0.81541	GAG		0.483	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		8	25	0	0	0	0.006214	0	8	25		
SS18	6760	broad.mit.edu	37	18	23619259	23619259	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:23619259G>T	ENST00000415083.2	-	6	824	c.769C>A	c.(769-771)Caa>Aaa	p.Q257K	SS18_ENST00000542743.1_Missense_Mutation_p.Q205K|SS18_ENST00000542420.2_Missense_Mutation_p.Q234K|SS18_ENST00000545952.1_Missense_Mutation_p.Q205K|SS18_ENST00000585241.1_5'Flank|SS18_ENST00000269137.7_Missense_Mutation_p.Q257K|SS18_ENST00000539849.1_Missense_Mutation_p.Q175K	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	257	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TTACCCTGTTGAGGAGGTCTA	0.398			T	"""SSX1,  SSX2"""	synovial sarcoma																																	uc002kvm.2		NaN		Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	SSX1| SSX2		synovial sarcoma	SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	0				soft_tissue(1883)|ovary(1)	1884						c.(769-771)CAA>AAA		synovial sarcoma translocation, chromosome 18							178.0	164.0	168.0					18																	23619259		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23619259G>T	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.769C>A	18.37:g.23619259G>T	ENSP00000414516:p.Gln257Lys					SS18_uc002kvn.2_Missense_Mutation_p.Q257K|SS18_uc010xbf.1_Missense_Mutation_p.Q175K|SS18_uc010xbg.1_Missense_Mutation_p.Q205K|SS18_uc010xbh.1_Missense_Mutation_p.Q205K|SS18_uc010xbi.1_Missense_Mutation_p.Q234K|SS18_uc010dlz.1_Missense_Mutation_p.Q205K	p.Q257K	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN			6	847	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		257			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.769C>A	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397112	0.83120	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952	T;T;T;T;T	0.35973	1.37;1.32;1.29;1.28;1.29	5.39	5.39	0.77823	.	0.050446	0.85682	D	0.000000	T	0.59742	0.2216	L	0.61218	1.895	0.80722	D	1	P;P;D	0.69078	0.462;0.462;0.997	B;B;D	0.72338	0.122;0.084;0.977	T	0.60541	-0.7243	10	0.66056	D	0.02	-4.1591	19.5085	0.95130	0.0:0.0:1.0:0.0	.	205;257;257	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	K	260;257;257;234;205;175;205	ENSP00000269137:Q257K;ENSP00000438066:Q234K;ENSP00000444551:Q205K;ENSP00000444647:Q175K;ENSP00000443097:Q205K	ENSP00000269137:Q257K	Q	-	1	0	SS18	21873257	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	9.420000	0.97426	2.692000	0.91855	0.650000	0.86243	CAA		0.398	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1				13	69	1	0	2.32078e-09	0.003163	2.45329e-09	13	69		
CCDC178	374864	broad.mit.edu	37	18	30926330	30926330	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:30926330G>T	ENST00000383096.3	-	9	685	c.503C>A	c.(502-504)tCa>tAa	p.S168*	CCDC178_ENST00000583930.1_Nonsense_Mutation_p.S168*|CCDC178_ENST00000402325.1_Nonsense_Mutation_p.S168*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.S168*|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.S168*|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.S168*|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.S168*			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	168																	AATGGCCTCTGAGAGCAATGT	0.348																																						uc002kxn.2		NaN																	0				ovary(1)	1						c.(502-504)TCA>TAA		hypothetical protein LOC374864 isoform 1							90.0	86.0	87.0					18																	30926330		2203	4300	6503	SO:0001587	stop_gained	374864							g.chr18:30926330G>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.503C>A	18.37:g.30926330G>T	ENSP00000372576:p.Ser168*					C18orf34_uc010xbr.1_Nonsense_Mutation_p.S168*|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Nonsense_Mutation_p.S168*|C18orf34_uc002kxp.2_Nonsense_Mutation_p.S168*	p.S168*	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			8	645	-			168			Potential.		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Nonsense_Mutation	SNP	ENST00000383096.3	37	c.503C>A	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	G	36	5.886815	0.97068	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1718	16.5129	0.84290	0.0:0.0:1.0:0.0	.	.	.	.	X	168	.	ENSP00000300227:S168X	S	-	2	0	C18orf34	29180328	0.794000	0.28838	0.927000	0.36925	0.404000	0.30871	3.266000	0.51569	2.636000	0.89361	0.557000	0.71058	TCA		0.348	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2		NM_198995		5	36	1	0	5.18039e-06	0.00308	5.3926e-06	5	36		
EPG5	57724	broad.mit.edu	37	18	43467730	43467730	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:43467730C>G	ENST00000282041.5	-	29	5129	c.5095G>C	c.(5095-5097)Gag>Cag	p.E1699Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1699					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCCAAGATCTCAATACATGAA	0.433																																						uc002lbm.2		NaN																	0					0						c.(5095-5097)GAG>CAG		hypothetical protein LOC57724							123.0	118.0	120.0					18																	43467730		1966	4167	6133	SO:0001583	missense	57724				autophagy			g.chr18:43467730C>G	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5095G>C	18.37:g.43467730C>G	ENSP00000282041:p.Glu1699Gln					KIAA1632_uc010xcq.1_Missense_Mutation_p.E253Q|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.E574Q	p.E1699Q	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			29	5195	-			1699					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.5095G>C	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	35	5.433173	0.96150	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.12361	2.69	6.02	6.02	0.97574	.	.	.	.	.	T	0.30947	0.0781	L	0.54323	1.7	0.80722	D	1	P	0.50369	0.934	P	0.55161	0.77	T	0.00118	-1.2034	9	0.72032	D	0.01	-9.943	20.547	0.99278	0.0:1.0:0.0:0.0	.	1699	Q9HCE0	EPG5_HUMAN	Q	1699;574	ENSP00000282041:E1699Q	ENSP00000282041:E1699Q	E	-	1	0	EPG5	41721728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.850000	0.98022	0.650000	0.86243	GAG		0.433	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1		NM_020964		13	54	0	0	0	0.007413	0	13	54		
TCEB3C	162699	broad.mit.edu	37	18	44555295	44555295	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:44555295C>A	ENST00000330682.2	-	1	1154	c.919G>T	c.(919-921)Gag>Tag	p.E307*	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCAGCTTCCTCCTGGAGCGCT	0.637																																						uc010xdb.1		NaN																	0					0						c.(919-921)GAG>TAG		transcription elongation factor B polypeptide							340.0	347.0	345.0					18																	44555295		1919	3729	5648	SO:0001587	stop_gained	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555295C>A	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.919G>T	18.37:g.44555295C>A	ENSP00000328232:p.Glu307*					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.E307*	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1155	-			307						Nonsense_Mutation	SNP	ENST00000330682.2	37	c.919G>T	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.180755	0.57800	.	.	ENSG00000183791	ENST00000330682	.	.	.	1.1	0.181	0.15073	.	0.536077	0.16017	U	0.233512	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.5747	5.1217	0.14863	0.0:0.6219:0.3781:0.0	.	.	.	.	X	307	.	ENSP00000328232:E307X	E	-	1	0	TCEB3C	42809293	0.035000	0.19736	0.003000	0.11579	0.004000	0.04260	1.141000	0.31528	0.054000	0.16065	-0.345000	0.07892	GAG		0.637	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1		NM_145653		19	864	1	0	3.52763e-06	0.00499	3.67509e-06	19	864		
LIPG	9388	broad.mit.edu	37	18	47101785	47101785	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:47101785G>C	ENST00000261292.4	+	5	896	c.618G>C	c.(616-618)aaG>aaC	p.K206N	LIPG_ENST00000580036.1_Missense_Mutation_p.K206N|LIPG_ENST00000577628.1_Missense_Mutation_p.K242N|LIPG_ENST00000427224.2_Intron	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	206					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACATCCACAAGAGGCTCTCTC	0.567																																					Pancreas(126;280 1778 12814 26243 34948)	uc002ldv.2		NaN																	0				ovary(1)|skin(1)	2						c.(616-618)AAG>AAC		endothelial lipase precursor							69.0	59.0	62.0					18																	47101785		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47101785G>C	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.618G>C	18.37:g.47101785G>C	ENSP00000261292:p.Lys206Asn					LIPG_uc002ldu.1_Missense_Mutation_p.K206N|LIPG_uc010xdh.1_Intron	p.K206N	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN			5	870	+			206					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.618G>C	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	2.525	-0.309798	0.05458	.	.	ENSG00000101670	ENST00000261292	D	0.90385	-2.66	5.83	1.78	0.24846	Lipase, N-terminal (1);	0.826215	0.11553	N	0.552580	T	0.79015	0.4375	N	0.16201	0.385	0.24920	N	0.991981	B;B	0.23990	0.095;0.019	B;B	0.19946	0.027;0.016	T	0.63629	-0.6594	10	0.18710	T	0.47	-20.0173	6.3864	0.21563	0.2025:0.2693:0.5283:0.0	.	206;206	Q9Y5X9;Q9Y5X9-2	LIPE_HUMAN;.	N	206	ENSP00000261292:K206N	ENSP00000261292:K206N	K	+	3	2	LIPG	45355783	0.001000	0.12720	0.161000	0.22692	0.021000	0.10359	-0.138000	0.10374	0.344000	0.23847	0.591000	0.81541	AAG		0.567	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1		NM_006033		10	50	0	0	0	0.010729	0	10	50		
MBD1	4152	broad.mit.edu	37	18	47799277	47799277	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:47799277C>G	ENST00000591416.1	-	14	2064	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q	MBD1_ENST00000339998.6_Missense_Mutation_p.E499Q|MBD1_ENST00000347968.3_Missense_Mutation_p.E489Q|MBD1_ENST00000382948.5_Missense_Mutation_p.E545Q|MBD1_ENST00000269471.5_Missense_Mutation_p.E476Q|MBD1_ENST00000398488.1_Missense_Mutation_p.E443Q|MBD1_ENST00000587605.1_Missense_Mutation_p.E443Q|MBD1_ENST00000436910.1_Missense_Mutation_p.E476Q|MBD1_ENST00000585595.1_Missense_Mutation_p.E570Q|MBD1_ENST00000424334.2_Missense_Mutation_p.E596Q|MBD1_ENST00000398495.2_Missense_Mutation_p.E514Q|MBD1_ENST00000353909.3_Missense_Mutation_p.E496Q|MBD1_ENST00000585672.1_Missense_Mutation_p.E495Q|MBD1_ENST00000590208.1_Missense_Mutation_p.E545Q|MBD1_ENST00000588937.1_Missense_Mutation_p.E476Q|MBD1_ENST00000269468.5_Missense_Mutation_p.E545Q|MBD1_ENST00000398493.1_Missense_Mutation_p.E489Q|MBD1_ENST00000457839.2_Missense_Mutation_p.E570Q|MBD1_ENST00000349085.2_Missense_Mutation_p.E443Q|MBD1_ENST00000591535.1_Missense_Mutation_p.E476Q			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	545	TRD.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TTGTCCTCCTCTGGGTCAGGT	0.582																																						uc010dow.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1633-1635)GAG>CAG		methyl-CpG binding domain protein 1 isoform 1							107.0	101.0	103.0					18																	47799277		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47799277C>G	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1633G>C	18.37:g.47799277C>G	ENSP00000467017:p.Glu545Gln					MBD1_uc002lef.2_Missense_Mutation_p.E250Q|MBD1_uc002leg.2_Missense_Mutation_p.E495Q|MBD1_uc010xdi.1_Missense_Mutation_p.E596Q|MBD1_uc002leh.3_Missense_Mutation_p.E489Q|MBD1_uc002len.2_Missense_Mutation_p.E499Q|MBD1_uc002lei.3_Missense_Mutation_p.E545Q|MBD1_uc002lej.3_Missense_Mutation_p.E443Q|MBD1_uc002lek.3_Missense_Mutation_p.E496Q|MBD1_uc002lel.3_Missense_Mutation_p.E476Q|MBD1_uc002lem.3_Missense_Mutation_p.E545Q|MBD1_uc010xdj.1_Missense_Mutation_p.E443Q|MBD1_uc010xdk.1_Missense_Mutation_p.E570Q|MBD1_uc010dox.1_Missense_Mutation_p.E476Q|MBD1_uc002leo.2_Missense_Mutation_p.E499Q	p.E545Q	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			14	2070	-			545			TRD.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.1633G>C	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571898	0.65765	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.97404	-4.2;-4.24;-3.84;-4.2;-4.37;-3.93;-3.99;-4.27;-3.96;-4.23;-4.37;-3.84	4.24	4.24	0.50183	.	0.129568	0.35677	N	0.003052	D	0.96710	0.8926	L	0.29908	0.895	0.32890	D	0.511698	D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.995;0.999;0.997;0.998;0.999;0.999;0.996;0.997;0.999;0.997;0.999	D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.993;0.985;0.996;0.993;0.993;0.997;0.997;0.986;0.993;0.997;0.993;0.997	D	0.96581	0.9430	10	0.66056	D	0.02	-17.257	12.4467	0.55654	0.0:1.0:0.0:0.0	.	443;596;476;545;499;476;496;443;545;489;570;489	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	Q	545;496;443;545;489;476;476;596;499;545;570;489;443	ENSP00000372407:E545Q;ENSP00000269469:E496Q;ENSP00000342531:E443Q;ENSP00000269468:E545Q;ENSP00000285102:E489Q;ENSP00000409561:E476Q;ENSP00000269471:E476Q;ENSP00000408846:E596Q;ENSP00000339546:E499Q;ENSP00000405268:E570Q;ENSP00000381506:E489Q;ENSP00000381502:E443Q	ENSP00000269468:E545Q	E	-	1	0	MBD1	46053275	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.679000	0.54634	2.663000	0.90544	0.655000	0.94253	GAG		0.582	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3		NM_015846		29	127	0	0	0	0.010818	0	29	127		
NARS	4677	broad.mit.edu	37	18	55273932	55273932	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:55273932C>G	ENST00000256854.5	-	10	1508	c.1053G>C	c.(1051-1053)ctG>ctC	p.L351L	NARS_ENST00000423481.2_Silent_p.L102L	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	351					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CCAACCGGTTCAGGAGGTCGT	0.493																																						uc002lgs.2		NaN																	0					0						c.(1051-1053)CTG>CTC		asparaginyl-tRNA synthetase	L-Asparagine(DB00174)						192.0	162.0	172.0					18																	55273932		2203	4300	6503	SO:0001819	synonymous_variant	4677				asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr18:55273932C>G	D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.1053G>C	18.37:g.55273932C>G						NARS_uc002lgt.2_Silent_p.L350L|NARS_uc010xea.1_Silent_p.L102L	p.L351L	NM_004539	NP_004530	O43776	SYNC_HUMAN			10	1281	-		Colorectal(73;0.227)	351					B4DG16|Q53GU6	Silent	SNP	ENST00000256854.5	37	c.1053G>C	CCDS32837.1																																																																																				0.493	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449872.2		NM_004539		21	130	0	0	0	0.004656	0	21	130		
ALPK2	115701	broad.mit.edu	37	18	56247584	56247584	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:56247584C>T	ENST00000361673.3	-	4	637	c.424G>A	c.(424-426)Gag>Aag	p.E142K	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	142						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGTTCCTTCTCATCAATCTGA	0.493																																						uc002lhj.3		NaN																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(424-426)GAG>AAG		heart alpha-kinase							279.0	268.0	272.0					18																	56247584		2139	4236	6375	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247584C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.424G>A	18.37:g.56247584C>T	ENSP00000354991:p.Glu142Lys						p.E142K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	638	-			142					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.424G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405688	0.42715	.	.	ENSG00000198796	ENST00000361673	T	0.47177	0.85	5.78	2.78	0.32641	.	.	.	.	.	T	0.35856	0.0946	L	0.47716	1.5	0.09310	N	1	B	0.24721	0.11	B	0.16722	0.016	T	0.33929	-0.9849	9	0.56958	D	0.05	-0.0203	3.2863	0.06932	0.1426:0.5675:0.1381:0.1518	.	142	Q86TB3	ALPK2_HUMAN	K	142	ENSP00000354991:E142K	ENSP00000354991:E142K	E	-	1	0	ALPK2	54398564	0.001000	0.12720	0.002000	0.10522	0.096000	0.18686	0.715000	0.25822	0.732000	0.32470	0.467000	0.42956	GAG		0.493	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1		NM_052947		14	93	0	0	0	0.008871	0	14	93		
CBLN2	147381	broad.mit.edu	37	18	70205477	70205477	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:70205477C>T	ENST00000269503.4	-	5	1382	c.609G>A	c.(607-609)gaG>gaA	p.E203E	CBLN2_ENST00000581073.1_Silent_p.E89E|CBLN2_ENST00000584764.1_Silent_p.E87E|CBLN2_ENST00000585159.1_Silent_p.E203E|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	203	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GGTTGCCTCTCTCAAGTTTGA	0.527																																						uc002lku.2		NaN																	0					0						c.(607-609)GAG>GAA		cerebellin 2 precursor							113.0	108.0	110.0					18																	70205477		2203	4300	6503	SO:0001819	synonymous_variant	147381					integral to membrane		g.chr18:70205477C>T	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.609G>A	18.37:g.70205477C>T						CBLN2_uc002lkv.2_Silent_p.E203E	p.E203E	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN			4	844	-		Esophageal squamous(42;0.131)	203			C1q.		Q53Z56	Silent	SNP	ENST00000269503.4	37	c.609G>A	CCDS11999.1																																																																																				0.527	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1		NM_182511		7	76	0	0	0	0.00308	0	7	76		
ZNF407	55628	broad.mit.edu	37	18	72343136	72343136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:72343136C>T	ENST00000299687.5	+	1	161	c.161C>T	c.(160-162)tCa>tTa	p.S54L	ZNF407_ENST00000309902.6_Missense_Mutation_p.S54L|ZNF407_ENST00000582337.1_Missense_Mutation_p.S54L|ZNF407_ENST00000577538.1_Missense_Mutation_p.S54L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	54					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGAGGTTTTTCAGAATCATCG	0.413																																						uc002llw.2		NaN																	0				ovary(2)	2						c.(160-162)TCA>TTA		zinc finger protein 407 isoform 1							85.0	82.0	83.0					18																	72343136		1831	4090	5921	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343136C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.161C>T	18.37:g.72343136C>T	ENSP00000299687:p.Ser54Leu					ZNF407_uc010xfc.1_Missense_Mutation_p.S54L|ZNF407_uc010dqu.1_Missense_Mutation_p.S54L|ZNF407_uc002llu.2_Missense_Mutation_p.S53L	p.S54L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	218	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	54					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.161C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282909	0.40394	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.15139	2.45;2.81	5.43	4.55	0.56014	.	0.212531	0.19704	U	0.107974	T	0.13713	0.0332	L	0.29908	0.895	0.09310	N	0.999999	B;B;B	0.17268	0.021;0.021;0.012	B;B;B	0.19946	0.027;0.018;0.006	T	0.27123	-1.0083	10	0.38643	T	0.18	.	10.3781	0.44094	0.0:0.8474:0.0:0.1526	.	54;54;54	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	L	54	ENSP00000299687:S54L;ENSP00000310359:S54L	ENSP00000299687:S54L	S	+	2	0	ZNF407	70472124	0.286000	0.24305	0.178000	0.23040	0.665000	0.39181	1.300000	0.33436	-0.425000	0.07371	-0.250000	0.11733	TCA		0.413	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1		NM_017757		7	24	0	0	0	0.001984	0	7	24		
GALR1	2587	broad.mit.edu	37	18	74962762	74962762	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:74962762C>G	ENST00000299727.3	+	1	258	c.258C>G	c.(256-258)ctC>ctG	p.L86L		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	86					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.L86L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCTACCTGCTCTTCTGCATCC	0.622																																						uc002lms.3		NaN																	1	Substitution - coding silent(1)		breast(1)	lung(1)	1						c.(256-258)CTC>CTG		galanin receptor 1							125.0	111.0	116.0					18																	74962762		2203	4300	6503	SO:0001819	synonymous_variant	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74962762C>G	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.258C>G	18.37:g.74962762C>G							p.L86L	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	755	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	86			Helical; Name=2; (Potential).		Q4VBL7	Silent	SNP	ENST00000299727.3	37	c.258C>G	CCDS12012.1																																																																																				0.622	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1				55	200	0	0	0	0.00361	0	55	200		
PALM	5064	broad.mit.edu	37	19	746781	746781	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:746781G>A	ENST00000338448.5	+	9	1177	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Silent_p.K333K	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	377					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		TCGACATGAAGAAGCACCGTT	0.701																																						uc002lpm.1		NaN																	0					0						c.(1129-1131)AAG>AAA		paralemmin isoform 1							11.0	13.0	12.0					19																	746781		2173	4261	6434	SO:0001819	synonymous_variant	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746781G>A	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.1131G>A	19.37:g.746781G>A						PALM_uc002lpn.1_Silent_p.K333K|PALM_uc010xfu.1_Silent_p.K242K	p.K377K	NM_002579	NP_002570	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	9	1325	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	377					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Silent	SNP	ENST00000338448.5	37	c.1131G>A	CCDS32857.1																																																																																				0.701	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1		NM_002579		4	25	0	0	0	0.001168	0	4	25		
PLPPR3	79948	broad.mit.edu	37	19	814710	814710	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:814710G>A	ENST00000520876.3	-	6	717	c.639C>T	c.(637-639)ttC>ttT	p.F213F	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Silent_p.F213F	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		213						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										AGACCGCGGCGAAGGCTGACA	0.697																																						uc002lpx.1		NaN																	0					0						c.(637-639)TTC>TTT		plasticity-related protein 2							48.0	40.0	43.0					19																	814710		2193	4296	6489	SO:0001819	synonymous_variant	79948					integral to membrane	phosphatidate phosphatase activity	g.chr19:814710G>A																												ENST00000520876.3:c.639C>T	19.37:g.814710G>A						LPPR3_uc010dru.1_Silent_p.F125F|LPPR3_uc002lpw.1_Silent_p.F213F|LPPR3_uc002lpy.1_5'UTR	p.F213F	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN			6	703	-			213			Helical; (Potential).		Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Silent	SNP	ENST00000520876.3	37	c.639C>T	CCDS58636.1	.	.	.	.	.	.	.	.	.	.	G	8.096	0.775516	0.16051	.	.	ENSG00000129951	ENST00000517665;ENST00000521445	.	.	.	4.77	1.14	0.20703	.	.	.	.	.	T	0.54791	0.1880	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43589	-0.9382	4	.	.	.	-15.6792	7.8594	0.29501	0.2878:0.0:0.7122:0.0	.	.	.	.	C	14;163	.	.	R	-	1	0	AC006273.1	765710	0.145000	0.22656	0.975000	0.42487	0.515000	0.34225	-0.507000	0.06352	0.032000	0.15435	-0.378000	0.06908	CGC		0.697	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3				11	90	0	0	0	0.001855	0	11	90		
SBNO2	22904	broad.mit.edu	37	19	1123979	1123979	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:1123979G>A	ENST00000361757.3	-	6	721	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	SBNO2_ENST00000438103.2_Silent_p.L105L|SBNO2_ENST00000587024.1_Silent_p.L162L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	162					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGAGGGCAGAAAGTCCTCG	0.657																																						uc002lrk.3		NaN																	0					0						c.(484-486)CTG>TTG		strawberry notch homolog 2 isoform 1							35.0	45.0	42.0					19																	1123979		2087	4201	6288	SO:0001819	synonymous_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1123979G>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.484C>T	19.37:g.1123979G>A						SBNO2_uc002lrj.3_Silent_p.L105L|SBNO2_uc010dse.2_Silent_p.L155L|SBNO2_uc010xgj.1_Silent_p.L105L|SBNO2_uc010dsf.2_Silent_p.L105L	p.L162L	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	722	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	162					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	c.484C>T	CCDS45894.1																																																																																				0.657	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2		NM_014963		6	58	0	0	0	0.004482	0	6	58		
APC2	10297	broad.mit.edu	37	19	1461973	1461973	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:1461973G>A	ENST00000535453.1	+	13	3363	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	APC2_ENST00000233607.2_Silent_p.L550L|APC2_ENST00000238483.4_Silent_p.L276L|CTB-25B13.12_ENST00000588225.1_RNA|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCCACCCTGAAGAGCGTGC	0.632																																						uc002lsr.1		NaN																	0				breast(3)|pancreas(1)	4						c.(1648-1650)CTG>CTA		adenomatosis polyposis coli 2							33.0	32.0	32.0					19																	1461973		2203	4300	6503	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1461973G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1650G>A	19.37:g.1461973G>A						APC2_uc002lss.1_Silent_p.L132L|APC2_uc002lst.1_Silent_p.L550L|APC2_uc002lsu.1_Silent_p.L549L|C19orf25_uc010xgn.1_Intron	p.L550L	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1858	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	550			ARM 3.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.1650G>A	CCDS12068.1																																																																																				0.632	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2		NM_005883		7	60	0	0	0	0.008291	0	7	60		
APC2	10297	broad.mit.edu	37	19	1462069	1462069	+	Silent	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:1462069G>T	ENST00000535453.1	+	13	3459	c.1746G>T	c.(1744-1746)gtG>gtT	p.V582V	APC2_ENST00000233607.2_Silent_p.V582V|APC2_ENST00000238483.4_Silent_p.V308V|CTB-25B13.12_ENST00000588225.1_RNA|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCCTGGTGAGCACCCTGA	0.637																																						uc002lsr.1		NaN																	0				breast(3)|pancreas(1)	4						c.(1744-1746)GTG>GTT		adenomatosis polyposis coli 2							65.0	53.0	57.0					19																	1462069		2203	4300	6503	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1462069G>T		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1746G>T	19.37:g.1462069G>T						APC2_uc002lss.1_Silent_p.V164V|APC2_uc002lst.1_Silent_p.V582V|APC2_uc002lsu.1_Silent_p.V581V|C19orf25_uc010xgn.1_Intron	p.V582V	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1954	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	582			ARM 4.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.1746G>T	CCDS12068.1																																																																																				0.637	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2		NM_005883		18	115	1	0	2.39556e-15	0.00278	2.57008e-15	18	115		
ATP8B3	148229	broad.mit.edu	37	19	1811570	1811570	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:1811570C>T	ENST00000310127.6	-	2	404	c.166G>A	c.(166-168)Gac>Aac	p.D56N	ATP8B3_ENST00000526092.2_Missense_Mutation_p.D3N|ATP8B3_ENST00000539485.1_Missense_Mutation_p.D56N|ATP8B3_ENST00000525591.1_Missense_Mutation_p.D3N	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	56					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGGGAGTCTCCCATCCCA	0.637																																						uc002ltw.2		NaN																	0					0						c.(166-168)GAC>AAC		ATPase, class I, type 8B, member 3							56.0	64.0	61.0					19																	1811570		2058	4188	6246	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1811570C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.166G>A	19.37:g.1811570C>T	ENSP00000311336:p.Asp56Asn					ATP8B3_uc002ltv.2_Missense_Mutation_p.D3N|ATP8B3_uc002ltx.2_Intron|ATP8B3_uc002ltz.1_Missense_Mutation_p.D3N	p.D56N	NM_138813	NP_620168	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	400	-		Hepatocellular(1079;0.137)	56			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.166G>A	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	c	19.20	3.782478	0.70222	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	T;T;T;T	0.74421	-0.84;-0.84;0.41;3.65	2.33	2.33	0.28932	.	.	.	.	.	T	0.69717	0.3142	N	0.19112	0.55	0.22779	N	0.998748	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.79108	0.99;0.992;0.992	T	0.58515	-0.7623	9	0.06365	T	0.9	.	8.2514	0.31724	0.0:1.0:0.0:0.0	.	3;56;3	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	N	56;56;3;3;3	ENSP00000311336:D56N;ENSP00000443574:D56N;ENSP00000437115:D3N;ENSP00000445204:D3N	ENSP00000311336:D56N	D	-	1	0	ATP8B3	1762570	0.805000	0.28982	0.968000	0.41197	0.618000	0.37518	0.691000	0.25467	1.625000	0.50366	0.491000	0.48974	GAC		0.637	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1		NM_138813		3	57	0	0	0	0.004482	0	3	57		
DOT1L	84444	broad.mit.edu	37	19	2222186	2222186	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:2222186C>G	ENST00000398665.3	+	24	3054	c.3018C>G	c.(3016-3018)ctC>ctG	p.L1006L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1006					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCACCAGCTCTCCTCCAGTC	0.697																																						uc002lvb.3		NaN																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(3016-3018)CTC>CTG		DOT1-like, histone H3 methyltransferase							33.0	43.0	39.0					19																	2222186		2005	4134	6139	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2222186C>G	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3018C>G	19.37:g.2222186C>G						DOT1L_uc002lvc.1_Silent_p.L300L|DOT1L_uc002lve.1_3'UTR	p.L1006L	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	24	3054	+		Hepatocellular(1079;0.137)	1006					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.3018C>G	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	1.808	-0.475416	0.04414	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.43	-0.957	0.10350	.	.	.	.	.	T	0.47135	0.1429	.	.	.	0.36472	D	0.867333	.	.	.	.	.	.	T	0.48811	-0.9002	4	.	.	.	-27.3873	6.9798	0.24696	0.0:0.6073:0.1303:0.2624	.	.	.	.	C	793	.	.	S	+	2	0	DOT1L	2173186	0.058000	0.20735	0.459000	0.27081	0.337000	0.28794	-0.036000	0.12185	0.017000	0.15025	-0.448000	0.05591	TCT		0.697	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		19	125	0	0	0	0.002299	0	19	125		
ZNF556	80032	broad.mit.edu	37	19	2876263	2876263	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:2876263G>A	ENST00000307635.2	+	3	390	c.303G>A	c.(301-303)gaG>gaA	p.E101E	ZNF556_ENST00000586426.1_Silent_p.E101E	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACCAAGGAGAGACATTTGA	0.453																																						uc002lwp.1		NaN																	0				skin(3)	3						c.(301-303)GAG>GAA		zinc finger protein 556							114.0	122.0	119.0					19																	2876263		2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2876263G>A	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.303G>A	19.37:g.2876263G>A						ZNF556_uc002lwq.2_Silent_p.E101E	p.E101E	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	390	+			101					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.303G>A	CCDS12097.1																																																																																				0.453	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2		NM_024967		14	79	0	0	0	0.00245	0	14	79		
TLE2	7089	broad.mit.edu	37	19	3017853	3017853	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:3017853C>T	ENST00000262953.6	-	8	817	c.555G>A	c.(553-555)gaG>gaA	p.E185E	TLE2_ENST00000443826.3_Intron|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000591529.1_Silent_p.E199E|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000590536.1_Silent_p.E186E|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000455444.2_Intron|TLE2_ENST00000426948.2_Silent_p.E199E	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	185	Gly/Pro-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGGGCTCTCTCCACTGACA	0.522																																						uc002lww.2		NaN																	0					0						c.(553-555)GAG>GAA		transducin-like enhancer protein 2 isoform 1							75.0	78.0	77.0					19																	3017853		1877	4107	5984	SO:0001819	synonymous_variant	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3017853C>T	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.555G>A	19.37:g.3017853C>T						TLE2_uc010xhb.1_5'UTR|TLE2_uc010dth.2_Silent_p.E186E|TLE2_uc010xhc.1_Intron|TLE2_uc010dti.2_Silent_p.E199E|TLE2_uc010xhd.1_Intron	p.E185E	NM_003260	NP_003251	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	818	-			185			Gly/Pro-rich.		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Silent	SNP	ENST00000262953.6	37	c.555G>A	CCDS45911.1																																																																																				0.522	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2		NM_003260		6	48	0	0	0	0.001984	0	6	48		
TLE2	7089	broad.mit.edu	37	19	3019709	3019709	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:3019709G>C	ENST00000262953.6	-	6	619	c.357C>G	c.(355-357)aaC>aaG	p.N119K	TLE2_ENST00000443826.3_Missense_Mutation_p.N64K|TLE2_ENST00000586422.1_Missense_Mutation_p.N64K|TLE2_ENST00000591529.1_Missense_Mutation_p.N132K|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000590536.1_Missense_Mutation_p.N119K|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000455444.2_Missense_Mutation_p.N64K|TLE2_ENST00000426948.2_Missense_Mutation_p.N132K	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	119	Gln-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGATGAGGCTGTTCAGCTCCC	0.647																																						uc002lww.2		NaN																	0					0						c.(355-357)AAC>AAG		transducin-like enhancer protein 2 isoform 1							27.0	36.0	33.0					19																	3019709		2068	4199	6267	SO:0001583	missense	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3019709G>C	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.357C>G	19.37:g.3019709G>C	ENSP00000262953:p.Asn119Lys					TLE2_uc010xhb.1_5'UTR|TLE2_uc010dth.2_Missense_Mutation_p.N119K|TLE2_uc010xhc.1_Missense_Mutation_p.N64K|TLE2_uc010dti.2_Missense_Mutation_p.N132K|TLE2_uc010xhd.1_Intron	p.N119K	NM_003260	NP_003251	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	620	-			119			Gln-rich.		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	c.357C>G	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354299	0.24512	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000443826;ENST00000426948	T;T;T;T	0.59083	0.29;0.3;0.3;0.5	4.24	3.2	0.36748	Groucho/TLE, N-terminal Q-rich domain (1);	0.208958	0.47852	N	0.000216	T	0.78679	0.4321	M	0.93594	3.435	0.43430	D	0.995594	D;B;D;D	0.71674	0.997;0.035;0.997;0.998	D;B;D;D	0.81914	0.992;0.023;0.995;0.982	T	0.80348	-0.1420	10	0.87932	D	0	-6.5508	8.354	0.32318	0.1136:0.0:0.8864:0.0	.	64;132;64;119	E9PEV7;F8WCH2;B4DE03;Q04725	.;.;.;TLE2_HUMAN	K	119;64;112;64;132	ENSP00000262953:N119K;ENSP00000413107:N64K;ENSP00000392427:N64K;ENSP00000392869:N132K	ENSP00000262953:N119K	N	-	3	2	TLE2	2970709	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	1.310000	0.33551	0.915000	0.36847	-0.379000	0.06801	AAC		0.647	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2		NM_003260		9	43	0	0	0	0.006214	0	9	43		
CREB3L3	84699	broad.mit.edu	37	19	4154998	4154998	+	Missense_Mutation	SNP	G	G	A	rs143652660		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:4154998G>A	ENST00000078445.2	+	2	277	c.130G>A	c.(130-132)Gag>Aag	p.E44K	CREB3L3_ENST00000595923.1_Missense_Mutation_p.E44K|CREB3L3_ENST00000602147.1_Missense_Mutation_p.E44K|CREB3L3_ENST00000602257.1_Missense_Mutation_p.E44K|CREB3L3_ENST00000252587.3_Missense_Mutation_p.E35K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	44					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCTGGGCGAGGGCTGGGG	0.642																																						uc002lzl.2		NaN																	0				ovary(1)|skin(1)	2						c.(130-132)GAG>AAG		cAMP responsive element binding protein 3-like		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	81.0	74.0	76.0		130	3.0	0.0	19	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CREB3L3	NM_032607.1	56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	44/462	4154998	2,13004	2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4154998G>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.130G>A	19.37:g.4154998G>A	ENSP00000078445:p.Glu44Lys					CREB3L3_uc002lzm.2_Missense_Mutation_p.E35K|CREB3L3_uc010xib.1_Missense_Mutation_p.E35K|CREB3L3_uc010xic.1_Missense_Mutation_p.E35K	p.E44K	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	2	246	+			44			Cytoplasmic (Potential).		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.130G>A	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341197	0.41498	2.27E-4	1.16E-4	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	T;T	0.73789	-0.78;-0.78	5.18	3.05	0.35203	.	1.205770	0.05630	N	0.581490	T	0.67552	0.2905	L	0.50919	1.6	0.09310	N	1	B;P;P;P	0.52842	0.011;0.918;0.956;0.926	B;B;B;B	0.40228	0.01;0.228;0.323;0.173	T	0.53180	-0.8475	10	0.27785	T	0.31	-22.5679	7.9648	0.30091	0.1909:0.0:0.8091:0.0	.	44;44;44;44	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	K	44;44;35	ENSP00000078445:E44K;ENSP00000252587:E35K	ENSP00000078445:E44K	E	+	1	0	CREB3L3	4105998	0.001000	0.12720	0.001000	0.08648	0.084000	0.17831	0.494000	0.22467	0.586000	0.29626	0.306000	0.20318	GAG		0.642	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1		NM_032607		28	181	0	0	0	0.004289	0	28	181		
MPND	84954	broad.mit.edu	37	19	4345945	4345945	+	Missense_Mutation	SNP	C	C	G	rs200894292		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:4345945C>G	ENST00000262966.8	+	3	565	c.498C>G	c.(496-498)caC>caG	p.H166Q	MPND_ENST00000599840.1_Missense_Mutation_p.H166Q|MPND_ENST00000359935.4_Missense_Mutation_p.H166Q|AC007292.4_ENST00000594776.1_RNA|AC007292.7_ENST00000598582.1_RNA	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	166							peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGGCTGCACCAGCTGCACA	0.632																																						uc002mae.2		NaN																	0				breast(1)	1						c.(496-498)CAC>CAG		MPN domain containing isoform 1							15.0	19.0	18.0					19																	4345945		2118	4253	6371	SO:0001583	missense	84954						peptidase activity	g.chr19:4345945C>G		CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.498C>G	19.37:g.4345945C>G	ENSP00000262966:p.His166Gln					MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.H166Q|MPND_uc002maf.2_Missense_Mutation_p.H166Q|MPND_uc002mah.2_Missense_Mutation_p.H54Q|MPND_uc002mai.2_Missense_Mutation_p.H54Q	p.H166Q	NM_032868	NP_116257	Q8N594	MPND_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	3	565	+			166					Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	ENST00000262966.8	37	c.498C>G	CCDS42470.1	.	.	.	.	.	.	.	.	.	.	c	6.624	0.483591	0.12581	.	.	ENSG00000008382	ENST00000262966;ENST00000359935	T;T	0.49720	0.77;0.77	4.24	3.19	0.36642	.	0.318788	0.33670	N	0.004677	T	0.26593	0.0650	N	0.21097	0.63	0.38639	D	0.951553	P;B;B	0.47106	0.89;0.022;0.022	B;B;B	0.38020	0.263;0.013;0.013	T	0.09100	-1.0690	10	0.11182	T	0.66	-23.1144	10.0024	0.41938	0.0:0.8956:0.0:0.1044	.	166;166;166	Q8N594-2;A6NI36;Q8N594	.;.;MPND_HUMAN	Q	166	ENSP00000262966:H166Q;ENSP00000353015:H166Q	ENSP00000262966:H166Q	H	+	3	2	MPND	4296945	1.000000	0.71417	0.986000	0.45419	0.480000	0.33159	3.470000	0.53100	0.875000	0.35847	0.491000	0.48974	CAC		0.632	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1		NM_032868		3	34	0	0	0	0.004672	0	3	34		
UBXN6	80700	broad.mit.edu	37	19	4446589	4446589	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:4446589G>C	ENST00000301281.6	-	8	952	c.828C>G	c.(826-828)gtC>gtG	p.V276V	MIR4746_ENST00000579802.1_RNA|UBXN6_ENST00000394765.3_Silent_p.V223V|CTB-50L17.7_ENST00000588798.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	276						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						AGGGCTGGAAGACGCGGCGCT	0.672																																						uc002man.1		NaN																	0					0						c.(826-828)GTC>GTG		UBX domain protein 6							32.0	35.0	34.0					19																	4446589		2203	4299	6502	SO:0001819	synonymous_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4446589G>C	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.828C>G	19.37:g.4446589G>C						UBXN6_uc010dty.1_Silent_p.V180V|UBXN6_uc002mam.1_Silent_p.V223V	p.V276V	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN			8	924	-			276					D6W626|Q96AH1|Q96IK9|Q9BZV0	Silent	SNP	ENST00000301281.6	37	c.828C>G	CCDS12129.1																																																																																				0.672	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3		NM_025241		11	111	0	0	0	0.00245	0	11	111		
LRG1	116844	broad.mit.edu	37	19	4538477	4538477	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:4538477C>T	ENST00000306390.6	-	2	979	c.519G>A	c.(517-519)ggG>ggA	p.G173G	LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	173					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCGGTTCCCAGACAGGT	0.622																																						uc002mau.2		NaN																	0				ovary(1)	1						c.(517-519)GGG>GGA		leucine-rich alpha-2-glycoprotein 1 precursor							69.0	79.0	75.0					19																	4538477		2203	4300	6503	SO:0001819	synonymous_variant	116844					extracellular region|membrane		g.chr19:4538477C>T		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.519G>A	19.37:g.4538477C>T						PLIN5_uc002mat.1_Intron	p.G173G	NM_052972	NP_443204	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	530	-		Hepatocellular(1079;0.137)	173			LRR 4.		Q8N4F5|Q96QZ4	Silent	SNP	ENST00000306390.6	37	c.519G>A	CCDS12130.1																																																																																				0.622	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2		NM_052972		34	218	0	0	0	0.010771	0	34	218		
INSR	3643	broad.mit.edu	37	19	7166277	7166277	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:7166277G>C	ENST00000302850.5	-	8	1891	c.1749C>G	c.(1747-1749)ctC>ctG	p.L583L	INSR_ENST00000341500.5_Silent_p.L583L	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	583					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCCAGGGCTTGAGACCCCGCA	0.557																																						uc002mgd.1		NaN																	0				ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(1747-1749)CTC>CTG		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						100.0	91.0	94.0					19																	7166277		2203	4300	6503	SO:0001819	synonymous_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7166277G>C	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1749C>G	19.37:g.7166277G>C						INSR_uc002mge.1_Silent_p.L583L|INSR_uc002mgf.2_Silent_p.L583L	p.L583L	NM_000208	NP_000199	P06213	INSR_HUMAN			8	1858	-			583					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.1749C>G	CCDS12176.1																																																																																				0.557	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1				8	70	0	0	0	0.004482	0	8	70		
ARHGEF18	23370	broad.mit.edu	37	19	7523533	7523533	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:7523533G>A	ENST00000359920.6	+	9	2006	c.1753G>A	c.(1753-1755)Gac>Aac	p.D585N	CTD-2207O23.3_ENST00000593531.1_Silent_p.R542R|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.D427N	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	585	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CTCCAAAGAGGACAGGAACGC	0.582																																						uc002mgi.2		NaN																	0				ovary(1)	1						c.(1753-1755)GAC>AAC		Rho/Rac guanine nucleotide exchange factor 18							81.0	73.0	76.0					19																	7523533		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7523533G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1753G>A	19.37:g.7523533G>A	ENSP00000352995:p.Asp585Asn					ARHGEF18_uc010xjm.1_Missense_Mutation_p.D427N|ARHGEF18_uc002mgh.2_Missense_Mutation_p.D427N|ARHGEF18_uc002mgj.1_Missense_Mutation_p.D228N	p.D585N	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN			9	2006	+		Renal(5;0.0902)	585			PH.		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.1753G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075987	0.94000	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.67345	-0.26;-0.26	4.99	4.99	0.66335	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.211748	0.32563	N	0.005931	T	0.74703	0.3751	L	0.58510	1.815	0.53688	D	0.999972	D;D	0.56035	0.974;0.957	P;P	0.55455	0.735;0.776	T	0.78272	-0.2268	10	0.87932	D	0	-26.4052	15.7945	0.78398	0.0:0.0:1.0:0.0	.	427;585	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	N	427;585	ENSP00000319200:D427N;ENSP00000352995:D585N	ENSP00000319200:D427N	D	+	1	0	ARHGEF18	7429533	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.467000	0.97671	2.324000	0.78689	0.591000	0.81541	GAC		0.582	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1		NM_015318		8	46	0	0	0	0.006214	0	8	46		
LRRC8E	80131	broad.mit.edu	37	19	7960596	7960596	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:7960596C>G	ENST00000306708.6	+	2	209	c.108C>G	c.(106-108)ctC>ctG	p.L36L		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	36					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TGGCCATGCTCATGATTGGGG	0.642																																						uc002mir.2		NaN																	0				lung(1)|pancreas(1)	2						c.(106-108)CTC>CTG		leucine rich repeat containing 8 family, member							129.0	96.0	107.0					19																	7960596		2203	4300	6503	SO:0001819	synonymous_variant	80131					integral to membrane		g.chr19:7960596C>G		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.108C>G	19.37:g.7960596C>G							p.L36L	NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN			2	209	+			36			Helical; (Potential).		B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	c.108C>G	CCDS12189.1																																																																																				0.642	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1		NM_025061		14	117	0	0	0	0.004007	0	14	117		
FBN3	84467	broad.mit.edu	37	19	8175799	8175799	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:8175799G>A	ENST00000600128.1	-	34	4677	c.4263C>T	c.(4261-4263)aaC>aaT	p.N1421N	FBN3_ENST00000601739.1_Silent_p.N1421N|FBN3_ENST00000270509.2_Silent_p.N1421N			Q75N90	FBN3_HUMAN	fibrillin 3	1421	EGF-like 22; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTCCAGGCAGGTTCTCACAGC	0.622																																						uc002mjf.2		NaN																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(4261-4263)AAC>AAT		fibrillin 3 precursor							175.0	141.0	153.0					19																	8175799		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8175799G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4263C>T	19.37:g.8175799G>A							p.N1421N	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			33	4284	-			1421			EGF-like 22; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.4263C>T	CCDS12196.1																																																																																				0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2		NM_032447		38	205	0	0	0	0.00874	0	38	205		
ANGPTL4	51129	broad.mit.edu	37	19	8438619	8438619	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:8438619C>G	ENST00000301455.2	+	7	1241	c.1070C>G	c.(1069-1071)tCc>tGc	p.S357C	RAB11B-AS1_ENST00000597785.1_RNA|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.S319C|RAB11B-AS1_ENST00000597407.1_RNA|RAB11B-AS1_ENST00000593581.1_RNA|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.S190C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	357	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TGCAGCCATTCCAACCTCAAC	0.607																																						uc002mjq.1		NaN																	0				ovary(1)	1						c.(1069-1071)TCC>TGC		angiopoietin-like 4 protein isoform a precursor							112.0	126.0	121.0					19																	8438619		2203	4300	6503	SO:0001583	missense	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8438619C>G	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.1070C>G	19.37:g.8438619C>G	ENSP00000301455:p.Ser357Cys					ANGPTL4_uc002mjr.1_Missense_Mutation_p.S319C|ANGPTL4_uc010xkc.1_Missense_Mutation_p.S190C	p.S357C	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN			7	1265	+			357			Fibrinogen C-terminal.		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	c.1070C>G	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172603	0.78452	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.78364	-1.17;-1.17;-1.17	5.37	5.37	0.77165	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);Fibrinogen, conserved site (1);	0.356387	0.29624	N	0.011628	D	0.88459	0.6442	M	0.76838	2.35	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.89657	0.3874	10	0.87932	D	0	.	17.6684	0.88209	0.0:1.0:0.0:0.0	.	319;357	A8MY84;Q9BY76	.;ANGL4_HUMAN	C	357;319;190	ENSP00000301455:S357C;ENSP00000377534:S319C;ENSP00000439833:S190C	ENSP00000301455:S357C	S	+	2	0	ANGPTL4	8344619	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	5.594000	0.67557	2.509000	0.84616	0.467000	0.42956	TCC		0.607	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1		NM_139314		66	501	0	0	0	0.00361	0	66	501		
ADAMTS10	81794	broad.mit.edu	37	19	8661945	8661945	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:8661945C>T	ENST00000597188.1	-	8	1236	c.966G>A	c.(964-966)gtG>gtA	p.V322V	ADAMTS10_ENST00000270328.4_Silent_p.V322V|ADAMTS10_ENST00000596709.1_5'Flank	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	322	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CGCTGTGGTTCACGATGGATT	0.572																																						uc002mkj.1		NaN																	0				pancreas(2)|skin(2)	4						c.(964-966)GTG>GTA		ADAM metallopeptidase with thrombospondin type 1							102.0	89.0	94.0					19																	8661945		2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8661945C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.966G>A	19.37:g.8661945C>T						ADAMTS10_uc002mkk.1_5'UTR	p.V322V	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			8	1240	-			322			Peptidase M12B.		M0QZE4	Silent	SNP	ENST00000597188.1	37	c.966G>A	CCDS12206.1																																																																																				0.572	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3		NM_030957		15	155	0	0	0	0.00499	0	15	155		
MUC16	94025	broad.mit.edu	37	19	9002669	9002669	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:9002669C>T	ENST00000397910.4	-	51	40350	c.40147G>A	c.(40147-40149)Gag>Aag	p.E13383K	MUC16_ENST00000380951.5_Missense_Mutation_p.E24K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13385	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATCCTTCTCAGGCCTAGGG	0.547																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(40147-40149)GAG>AAG		mucin 16							59.0	50.0	53.0					19																	9002669		1902	4117	6019	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9002669C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40147G>A	19.37:g.9002669C>T	ENSP00000381008:p.Glu13383Lys					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E200K|MUC16_uc010xki.1_RNA	p.E13383K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			51	40351	-			13385			Extracellular (Potential).|SEA 9.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40147G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	7.910	0.736215	0.15574	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.43688	0.94;0.94	2.75	0.451	0.16629	SEA (1);	.	.	.	.	T	0.42562	0.1208	L	0.42487	1.325	.	.	.	B;D	0.54772	0.186;0.968	B;D	0.68621	0.032;0.959	T	0.50931	-0.8769	8	0.06099	T	0.92	-8.6663	4.3947	0.11356	0.0:0.6183:0.0:0.3817	.	21028;13383	Q8WXI7;B5ME49	MUC16_HUMAN;.	K	13383;24	ENSP00000381008:E13383K;ENSP00000370338:E24K	ENSP00000370338:E24K	E	-	1	0	MUC16	8863669	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	0.325000	0.19628	0.175000	0.19841	0.313000	0.20887	GAG		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		5	37	0	0	0	0.001168	0	5	37		
MUC16	94025	broad.mit.edu	37	19	9062124	9062124	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:9062124G>T	ENST00000397910.4	-	3	25525	c.25322C>A	c.(25321-25323)cCc>cAc	p.P8441H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8443	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCACCACTGGGCACTTCAGA	0.522																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(25321-25323)CCC>CAC		mucin 16							89.0	86.0	87.0					19																	9062124		1998	4182	6180	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062124G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25322C>A	19.37:g.9062124G>T	ENSP00000381008:p.Pro8441His						p.P8441H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25526	-			8443			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.25322C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.810	0.150617	0.09185	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	2.89	1.82	0.25136	.	.	.	.	.	T	0.07143	0.0181	L	0.32530	0.975	.	.	.	D	0.64830	0.994	P	0.59012	0.85	T	0.22977	-1.0201	8	0.87932	D	0	.	7.1762	0.25747	0.0:0.0:0.7342:0.2658	.	8441	B5ME49	.	H	8441	ENSP00000381008:P8441H	ENSP00000381008:P8441H	P	-	2	0	MUC16	8923124	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.047000	0.14056	0.769000	0.33313	0.394000	0.25966	CCC		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		14	71	1	0	3.27435e-08	0.00245	3.44725e-08	14	71		
MUC16	94025	broad.mit.edu	37	19	9091500	9091500	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:9091500C>T	ENST00000397910.4	-	1	518	c.315G>A	c.(313-315)ctG>ctA	p.L105L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	105	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGGGGACTCAGCGATGGGC	0.537																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(313-315)CTG>CTA		mucin 16							133.0	130.0	131.0					19																	9091500		1973	4162	6135	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091500C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.315G>A	19.37:g.9091500C>T							p.L105L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	519	-			105			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.315G>A	CCDS54212.1																																																																																				0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		22	130	0	0	0	0.002299	0	22	130		
ZNF846	162993	broad.mit.edu	37	19	9873968	9873968	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:9873968G>A	ENST00000397902.2	-	3	545	c.132C>T	c.(130-132)ctC>ctT	p.L44L	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_Silent_p.L44L|ZNF846_ENST00000588267.1_5'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						CTAGTATAATGAGATTCTTGT	0.408																																						uc002mmb.1		NaN																	0				ovary(1)	1						c.(130-132)CTC>CTT		zinc finger protein 846							104.0	109.0	108.0					19																	9873968		2201	4300	6501	SO:0001819	synonymous_variant	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9873968G>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.132C>T	19.37:g.9873968G>A						ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_5'UTR	p.L44L	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN			3	663	-			44			KRAB.		A8K0H1|B3KUP1	Silent	SNP	ENST00000397902.2	37	c.132C>T	CCDS42496.1																																																																																				0.408	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1		NM_001077624		8	61	0	0	0	0.010729	0	8	61		
OLFM2	93145	broad.mit.edu	37	19	9967498	9967498	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:9967498G>A	ENST00000264833.4	-	5	857	c.672C>T	c.(670-672)ccC>ccT	p.P224P	OLFM2_ENST00000590841.1_Silent_p.P146P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	224	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TATCCGCACTGGGGGCCATCG	0.662																																						uc002mmp.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(670-672)CCC>CCT		olfactomedin 2 precursor							25.0	25.0	25.0					19																	9967498		2202	4300	6502	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9967498G>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.672C>T	19.37:g.9967498G>A						OLFM2_uc002mmo.2_Silent_p.P146P	p.P224P	NM_058164	NP_477512	O95897	NOE2_HUMAN			5	700	-			224			Olfactomedin-like.		Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.672C>T	CCDS12221.1																																																																																				0.662	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1				10	53	0	0	0	0.00245	0	10	53		
PDE4A	5141	broad.mit.edu	37	19	10577958	10577959	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:10577958_10577959GG>TA	ENST00000352831.6	+	15	2432_2433	c.2322_2323GG>TA	c.(2320-2325)ctGGag>ctTAag	p.E775K	PDE4A_ENST00000440014.2_Missense_Mutation_p.E714K|PDE4A_ENST00000380702.2_Missense_Mutation_p.E753K|PDE4A_ENST00000293683.5_Missense_Mutation_p.E749K|PDE4A_ENST00000344979.3_Missense_Mutation_p.E536K|PDE4A_ENST00000592685.1_Missense_Mutation_p.E753K	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	775					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	AGGCCGAGCTGGAGGCAGTGTA	0.594																																						uc002moj.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(2320-2325)CTGGAG>CTTAAG		phosphodiesterase 4A isoform 1	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)																																			SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10577958_10577959GG>TA		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		Exception_encountered	19.37:g.10577958_10577959delinsTA	ENSP00000270474:p.Glu775Lys					PDE4A_uc002mok.2_Missense_Mutation_p.E749K|PDE4A_uc002mol.2_Missense_Mutation_p.E714K|PDE4A_uc002mom.2_Missense_Mutation_p.E536K|PDE4A_uc002mon.2_Missense_Mutation_p.E230K|PDE4A_uc002moo.2_3'UTR	p.E775K	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		15	2430_2431	+			775					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	DNP	ENST00000352831.6	37	c.2322_2323GG>TA	CCDS45961.1																																																																																				0.594	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1				19	165	0	0	0	0.004672	0	19	165		
KANK2	25959	broad.mit.edu	37	19	11286644	11286644	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:11286644G>A	ENST00000586659.1	-	8	2096	c.1782C>T	c.(1780-1782)ctC>ctT	p.L594L	KANK2_ENST00000589359.1_Silent_p.L602L|KANK2_ENST00000355150.5_Silent_p.L594L|KANK2_ENST00000589894.1_Silent_p.L594L|KANK2_ENST00000432929.2_Silent_p.L602L			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	594					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGGCTGAGATGAGGTCAGGGC	0.607																																						uc010dxv.2		NaN																	0					0						c.(1780-1782)CTC>CTT		ankyrin repeat domain 25 isoform 1							141.0	117.0	125.0					19																	11286644		2203	4300	6503	SO:0001819	synonymous_variant	25959							g.chr19:11286644G>A	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1782C>T	19.37:g.11286644G>A						KANK2_uc002mqm.2_Silent_p.L602L|KANK2_uc002mqo.3_Silent_p.L594L|KANK2_uc002mqp.1_Silent_p.L403L	p.L594L	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN			10	2340	-			594					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	c.1782C>T	CCDS12255.1																																																																																				0.607	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2		NM_015493		14	152	0	0	0	0.006122	0	14	152		
RAB3D	9545	broad.mit.edu	37	19	11448060	11448060	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:11448060C>T	ENST00000222120.3	-	2	276	c.16G>A	c.(16-18)Gac>Aac	p.D6N	RAB3D_ENST00000589655.1_Missense_Mutation_p.D6N	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	6					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GCCTGGGTGTCTCCAGCTGAT	0.547																																						uc002mqy.2		NaN																	0				ovary(2)	2						c.(16-18)GAC>AAC		RAB3D, member RAS oncogene family							143.0	119.0	127.0					19																	11448060		2203	4300	6503	SO:0001583	missense	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11448060C>T	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.16G>A	19.37:g.11448060C>T	ENSP00000222120:p.Asp6Asn						p.D6N	NM_004283	NP_004274	O95716	RAB3D_HUMAN			2	254	-			6						Missense_Mutation	SNP	ENST00000222120.3	37	c.16G>A	CCDS12257.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063387	0.76187	.	.	ENSG00000105514	ENST00000222120	T	0.62788	0.0	4.35	4.35	0.52113	.	0.202350	0.49916	D	0.000136	T	0.50735	0.1633	N	0.24115	0.695	0.54753	D	0.999989	B	0.10296	0.003	B	0.16722	0.016	T	0.53265	-0.8463	10	0.87932	D	0	.	16.1403	0.81517	0.0:1.0:0.0:0.0	.	6	O95716	RAB3D_HUMAN	N	6	ENSP00000222120:D6N	ENSP00000222120:D6N	D	-	1	0	RAB3D	11309060	1.000000	0.71417	0.714000	0.30535	0.269000	0.26545	7.275000	0.78548	2.419000	0.82065	0.585000	0.79938	GAC		0.547	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1		NM_004283		22	170	0	0	0	0.00278	0	22	170		
ZNF564	163050	broad.mit.edu	37	19	12639430	12639430	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:12639430G>C	ENST00000339282.7	-	2	280	c.84C>G	c.(82-84)ctC>ctG	p.L28L	CTD-2192J16.21_ENST00000601420.1_RNA|ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CATCTCTGTAGAGTTTCTTCT	0.453																																						uc002mty.2		NaN																	0				ovary(1)	1						c.(82-84)CTC>CTG		zinc finger protein 564							101.0	104.0	103.0					19																	12639430		2202	4300	6502	SO:0001819	synonymous_variant	163050				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12639430G>C	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.84C>G	19.37:g.12639430G>C						ZNF709_uc002mtx.3_Intron	p.L28L	NM_144976	NP_659413	Q8TBZ8	ZN564_HUMAN			2	294	-			28			KRAB.		B9EGT4|Q6P1K6	Silent	SNP	ENST00000339282.7	37	c.84C>G	CCDS42505.1																																																																																				0.453	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2		NM_144976		10	79	0	0	0	0.010729	0	10	79		
ZNF791	163049	broad.mit.edu	37	19	12739580	12739580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:12739580G>T	ENST00000343325.4	+	4	1399	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*	ZNF791_ENST00000458122.3_Nonsense_Mutation_p.E381*|AC010422.1_ENST00000408416.1_RNA|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Nonsense_Mutation_p.E304*	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AAAACCCTATGAGTGTAAGGA	0.393																																						uc002mua.2		NaN																	0				ovary(2)	2						c.(1237-1239)GAG>TAG		zinc finger protein 791							101.0	108.0	105.0					19																	12739580		2203	4300	6503	SO:0001587	stop_gained	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739580G>T	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1237G>T	19.37:g.12739580G>T	ENSP00000342974:p.Glu413*					ZNF791_uc010xml.1_Nonsense_Mutation_p.E381*|ZNF791_uc010dyu.1_Nonsense_Mutation_p.E304*|ZNF791_uc010xmm.1_Nonsense_Mutation_p.E304*	p.E413*	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN			4	1399	+			413			C2H2-type 12.		B7Z586|Q8NC99	Nonsense_Mutation	SNP	ENST00000343325.4	37	c.1237G>T	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087708	0.94100	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	.	.	.	1.83	-0.319	0.12725	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	2.5188	0.04675	0.2403:0.0:0.5089:0.2508	.	.	.	.	X	413;395;381;304	.	ENSP00000342974:E413X	E	+	1	0	ZNF791	12600580	0.000000	0.05858	0.979000	0.43373	0.989000	0.77384	-1.425000	0.02446	-0.217000	0.10033	0.491000	0.48974	GAG		0.393	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1		NM_153358		7	75	1	0	0.00448238	0.004482	0.00457775	7	75		
ZNF791	163049	broad.mit.edu	37	19	12740000	12740000	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:12740000G>A	ENST00000343325.4	+	4	1819	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K	ZNF791_ENST00000458122.3_Missense_Mutation_p.E521K|AC010422.1_ENST00000408416.1_RNA|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.E444K	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GAAACCTCTTGAATGTAAGCA	0.353																																						uc002mua.2		NaN																	0				ovary(2)	2						c.(1657-1659)GAA>AAA		zinc finger protein 791							75.0	80.0	78.0					19																	12740000		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12740000G>A	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1657G>A	19.37:g.12740000G>A	ENSP00000342974:p.Glu553Lys					ZNF791_uc010xml.1_Missense_Mutation_p.E521K|ZNF791_uc010dyu.1_Missense_Mutation_p.E444K|ZNF791_uc010xmm.1_Missense_Mutation_p.E444K	p.E553K	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN			4	1819	+			553			C2H2-type 17.		B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.1657G>A	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894446	0.33442	.	.	ENSG00000173875	ENST00000343325;ENST00000458122;ENST00000540038	T;T;T	0.19250	2.16;2.16;2.16	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	N	0.04245	-0.25	0.19575	N	0.999969	P	0.52842	0.956	P	0.53006	0.715	T	0.14035	-1.0487	9	0.17832	T	0.49	.	5.4696	0.16662	0.0:0.0:0.6707:0.3293	.	553	Q3KP31	ZN791_HUMAN	K	553;521;444	ENSP00000342974:E553K;ENSP00000441761:E521K;ENSP00000441038:E444K	ENSP00000342974:E553K	E	+	1	0	ZNF791	12601000	0.000000	0.05858	0.928000	0.36995	0.857000	0.48899	-1.478000	0.02329	1.007000	0.39238	0.491000	0.48974	GAA		0.353	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1		NM_153358		13	46	0	0	0	0.004007	0	13	46		
MAST1	22983	broad.mit.edu	37	19	12969528	12969528	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:12969528C>T	ENST00000251472.4	+	12	1380	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	MAST1_ENST00000591495.1_Silent_p.L443L	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGCGCCACCTCTGCATGGTCA	0.622																																						uc002mvm.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(1339-1341)CTC>CTT		microtubule associated serine/threonine kinase							69.0	60.0	63.0					19																	12969528		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12969528C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1341C>T	19.37:g.12969528C>T						MAST1_uc002mvk.2_Silent_p.L443L	p.L447L	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			12	1469	+			447			Protein kinase.			Silent	SNP	ENST00000251472.4	37	c.1341C>T	CCDS32921.1																																																																																				0.622	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2		NM_014975		12	69	0	0	0	0.00499	0	12	69		
GCDH	2639	broad.mit.edu	37	19	13007041	13007041	+	Missense_Mutation	SNP	G	G	A	rs375357230		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:13007041G>A	ENST00000222214.5	+	8	869	c.658G>A	c.(658-660)Gat>Aat	p.D220N	GCDH_ENST00000422947.2_Missense_Mutation_p.D176N|GCDH_ENST00000457854.1_Missense_Mutation_p.D220N|GCDH_ENST00000591470.1_Missense_Mutation_p.D220N			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	220					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GCCTATGGCCGATCTGTTTGT	0.622																																					GBM(123;875 1636 7726 16444 26754)	uc002mvq.2		NaN																	0					0						c.(658-660)GAT>AAT		glutaryl-Coenzyme A dehydrogenase isoform a		G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	101.0	89.0	93.0		658,658	4.0	0.9	19		93	0,8600		0,0,4300	no	missense,missense	GCDH	NM_000159.2,NM_013976.2	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	220/439,220/429	13007041	1,13005	2203	4300	6503	SO:0001583	missense	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13007041G>A	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.658G>A	19.37:g.13007041G>A	ENSP00000222214:p.Asp220Asn					GCDH_uc010xms.1_Missense_Mutation_p.D187N|GCDH_uc002mvp.2_Missense_Mutation_p.D220N|GCDH_uc010xmt.1_Intron|GCDH_uc010xmu.1_Missense_Mutation_p.D176N	p.D220N	NM_000159	NP_000150	Q92947	GCDH_HUMAN			8	735	+			220					A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	c.658G>A	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090416	0.55968	2.27E-4	0.0	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.96168	-3.93;-3.93;-3.93	5.03	4.0	0.46444	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.97492	0.9179	M	0.84773	2.715	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.933;1.0;1.0;1.0	D	0.97740	1.0208	10	0.87932	D	0	.	11.5256	0.50578	0.0878:0.0:0.9122:0.0	.	176;187;220;220	B4DK85;B4DQF2;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	N	220;220;187;176	ENSP00000394872:D220N;ENSP00000222214:D220N;ENSP00000394821:D176N	ENSP00000222214:D220N	D	+	1	0	GCDH	12868041	1.000000	0.71417	0.948000	0.38648	0.005000	0.04900	7.586000	0.82596	1.254000	0.44035	-0.136000	0.14681	GAT		0.622	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1				38	182	0	0	0	0.011902	0	38	182		
CALR	811	broad.mit.edu	37	19	13054368	13054368	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:13054368C>T	ENST00000316448.5	+	8	1051	c.978C>T	c.(976-978)atC>atT	p.I326I	RAD23A_ENST00000316856.3_5'Flank|RAD23A_ENST00000541222.1_5'Flank|RAD23A_ENST00000592268.1_5'Flank|RAD23A_ENST00000586534.1_5'Flank|CTC-425F1.4_ENST00000589120.1_RNA	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	326	C-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	CTGGCACCATCTTTGACAACT	0.527																																						uc002mvu.2		NaN																	0				ovary(1)	1						c.(976-978)ATC>ATT		calreticulin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						166.0	124.0	138.0					19																	13054368		2203	4300	6503	SO:0001819	synonymous_variant	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13054368C>T	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.978C>T	19.37:g.13054368C>T						CALR_uc002mvv.2_5'Flank|RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvx.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc002mwa.1_5'Flank|RAD23A_uc002mvy.1_5'Flank|RAD23A_uc010xmw.1_5'Flank	p.I326I	NM_004343	NP_004334	P27797	CALR_HUMAN			8	1058	+			326			C-domain.		Q6IAT4|Q9UDG2	Silent	SNP	ENST00000316448.5	37	c.978C>T	CCDS12288.1																																																																																				0.527	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1		NM_004343		15	106	0	0	0	0.00499	0	15	106		
RAD23A	5886	broad.mit.edu	37	19	13059132	13059132	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:13059132G>C	ENST00000586534.1	+	3	437	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000316856.3_Missense_Mutation_p.E126Q|RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000592268.1_Missense_Mutation_p.E126Q			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	126					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GAGCCCATCAGAGGAATCCGC	0.652								Nucleotide excision repair (NER)																														uc002mvw.1		NaN																	0				central_nervous_system(1)	1						c.(376-378)GAG>CAG	NER	UV excision repair protein RAD23 homolog A							44.0	51.0	49.0					19																	13059132		2203	4300	6503	SO:0001583	missense	5886				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr19:13059132G>C		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.376G>C	19.37:g.13059132G>C	ENSP00000467024:p.Glu126Gln					RAD23A_uc002mvx.1_Missense_Mutation_p.E126Q|RAD23A_uc002mvz.1_Missense_Mutation_p.E126Q|RAD23A_uc002mwa.1_Missense_Mutation_p.E126Q|RAD23A_uc002mvy.1_5'UTR|RAD23A_uc010xmw.1_5'UTR	p.E126Q	NM_005053	NP_005044	P54725	RD23A_HUMAN			3	485	+			126					K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	ENST00000586534.1	37	c.376G>C	CCDS12289.1	.	.	.	.	.	.	.	.	.	.	G	7.172	0.587751	0.13812	.	.	ENSG00000179262	ENST00000316856	T	0.18502	2.21	4.54	4.54	0.55810	.	0.208574	0.39909	N	0.001235	T	0.08802	0.0218	N	0.08118	0	0.80722	D	1	B;B;B	0.18013	0.002;0.008;0.025	B;B;B	0.17433	0.001;0.003;0.018	T	0.24440	-1.0160	10	0.16420	T	0.52	-37.5227	12.7951	0.57555	0.0:0.0:1.0:0.0	.	126;143;126	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	Q	126	ENSP00000321365:E126Q	ENSP00000321365:E126Q	E	+	1	0	RAD23A	12920132	0.987000	0.35691	0.914000	0.36105	0.142000	0.21351	2.823000	0.48081	2.070000	0.61991	0.650000	0.86243	GAG		0.652	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1		NM_005053		6	106	0	0	0	0.008291	0	6	106		
OR10H3	26532	broad.mit.edu	37	19	15853149	15853149	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:15853149C>G	ENST00000305892.1	+	1	947	c.947C>G	c.(946-948)tCc>tGc	p.S316C		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCTCTAAGCTCCTAATGGCCA	0.408																																						uc010xoq.1		NaN																	0					0						c.(946-948)TCC>TGC		olfactory receptor, family 10, subfamily H,							55.0	59.0	57.0					19																	15853149		2200	4298	6498	SO:0001583	missense	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15853149C>G		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.947C>G	19.37:g.15853149C>G	ENSP00000307130:p.Ser316Cys						p.S316C	NM_013938	NP_039226	O60404	O10H3_HUMAN			1	947	+			316			Cytoplasmic (Potential).		Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	c.947C>G	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	11.19	1.566643	0.28003	.	.	ENSG00000171936	ENST00000305892	T	0.07021	3.23	2.55	-1.68	0.08212	.	1.636630	0.04026	U	0.300632	T	0.11537	0.0281	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.23476	-1.0187	10	0.87932	D	0	.	1.0387	0.01554	0.3802:0.2953:0.1877:0.1368	.	316	O60404	O10H3_HUMAN	C	316	ENSP00000307130:S316C	ENSP00000307130:S316C	S	+	2	0	OR10H3	15714149	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.743000	0.04845	0.001000	0.14605	0.205000	0.17691	TCC		0.408	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1				4	32	0	0	0	0.009096	0	4	32		
FCHO1	23149	broad.mit.edu	37	19	17883460	17883460	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:17883460G>A	ENST00000596536.1	+	11	983	c.700G>A	c.(700-702)Gag>Aag	p.E234K	FCHO1_ENST00000539407.1_Missense_Mutation_p.E234K|FCHO1_ENST00000600676.1_Missense_Mutation_p.E234K|FCHO1_ENST00000597512.1_Missense_Mutation_p.E241K|FCHO1_ENST00000594202.1_Missense_Mutation_p.E234K|FCHO1_ENST00000389133.4_Missense_Mutation_p.E234K|FCHO1_ENST00000595033.1_Missense_Mutation_p.E184K|FCHO1_ENST00000596951.1_Missense_Mutation_p.E234K|FCHO1_ENST00000252771.7_Missense_Mutation_p.E234K	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	234	Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ACAGGTGCATGAGGAATTTAA	0.587																																						uc010ebb.2		NaN																	0				breast(1)	1						c.(700-702)GAG>AAG		FCH domain only 1 isoform b							106.0	94.0	98.0					19																	17883460		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17883460G>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.700G>A	19.37:g.17883460G>A	ENSP00000470731:p.Glu234Lys					FCHO1_uc002nhg.3_Missense_Mutation_p.E234K|FCHO1_uc002nhh.2_Missense_Mutation_p.E234K|FCHO1_uc010xpw.1_Missense_Mutation_p.E184K|FCHO1_uc010ebc.1_Missense_Mutation_p.E241K	p.E234K	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN			10	889	+			234					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.700G>A	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482914	0.63962	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.48522	0.81;0.81;0.81	4.5	3.43	0.39272	.	0.231486	0.43110	D	0.000614	T	0.59238	0.2179	L	0.54323	1.7	0.53005	D	0.999966	D;D;D	0.76494	0.995;0.999;0.999	P;D;D	0.69307	0.813;0.929;0.963	T	0.60296	-0.7291	10	0.59425	D	0.04	-27.4396	10.2247	0.43218	0.0:0.0:0.8008:0.1992	.	184;234;234	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	K	234	ENSP00000252771:E234K;ENSP00000373785:E234K;ENSP00000437978:E234K	ENSP00000252771:E234K	E	+	1	0	FCHO1	17744460	1.000000	0.71417	0.867000	0.34043	0.896000	0.52359	4.643000	0.61390	1.156000	0.42514	0.561000	0.74099	GAG		0.587	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2		NM_015122		18	115	0	0	0	0.012319	0	18	115		
JUND	3727	broad.mit.edu	37	19	18391519	18391519	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:18391519G>C	ENST00000252818.3	-	1	913	c.776C>G	c.(775-777)tCg>tGg	p.S259W	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	259					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						GTCGATGGGCGACAACGGCGG	0.721																																						uc002nip.2		NaN																	0					0						c.(775-777)TCG>TGG		jun D proto-oncogene							17.0	18.0	18.0					19																	18391519		2156	4197	6353	SO:0001583	missense	3727				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr19:18391519G>C		CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"""basic leucine zipper proteins"""	6206	protein-coding gene	gene with protein product	"""transcription factor jun-D"", ""JunD-FL isoform"", ""activator protein 1"""	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.776C>G	19.37:g.18391519G>C	ENSP00000252818:p.Ser259Trp					hsa-mir-3188|MI0014232_5'Flank	p.S259W	NM_005354	NP_005345	P17535	JUND_HUMAN			1	914	-			259					Q53EK9	Missense_Mutation	SNP	ENST00000252818.3	37	c.776C>G	CCDS32959.1	.	.	.	.	.	.	.	.	.	.	.	18.03	3.533239	0.64972	.	.	ENSG00000130522	ENST00000252818	T	0.30714	1.52	3.16	3.16	0.36331	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.000000	0.85682	U	0.000000	T	0.59088	0.2168	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68292	-0.5447	10	0.87932	D	0	.	12.2195	0.54425	0.0:0.0:1.0:0.0	.	259	P17535	JUND_HUMAN	W	259	ENSP00000252818:S259W	ENSP00000252818:S259W	S	-	2	0	JUND	18252519	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	8.769000	0.91742	1.790000	0.52503	0.450000	0.29827	TCG		0.721	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466318.2		NM_005354		6	38	0	0	0	0.003163	0	6	38		
LRRC25	126364	broad.mit.edu	37	19	18507660	18507660	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:18507660G>A	ENST00000339007.3	-	1	767	c.114C>T	c.(112-114)ttC>ttT	p.F38F	LRRC25_ENST00000595840.1_Silent_p.F38F	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	38						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						ACGTGGCACTGAACTCCGCGT	0.617																																						uc002niw.2		NaN																	0					0						c.(112-114)TTC>TTT		leucine rich repeat containing 25 precursor							75.0	56.0	63.0					19																	18507660		2203	4300	6503	SO:0001819	synonymous_variant	126364					integral to membrane		g.chr19:18507660G>A	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.114C>T	19.37:g.18507660G>A						LRRC25_uc002nix.2_Silent_p.F38F	p.F38F	NM_145256	NP_660299	Q8N386	LRC25_HUMAN			1	756	-			38			Extracellular (Potential).		Q6IQ00|Q8N9A5	Silent	SNP	ENST00000339007.3	37	c.114C>T	CCDS12377.1																																																																																				0.617	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1		NM_145256		15	79	0	0	0	0.003163	0	15	79		
ELL	8178	broad.mit.edu	37	19	18632761	18632761	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:18632761C>T	ENST00000262809.4	-	1	176	c.105G>A	c.(103-105)ctG>ctA	p.L35L		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	35					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CGAAGGCCCTCAGGGCACTGT	0.701			T	MLL	AL																																	uc002njh.2		NaN		Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		0				lung(1)	1						c.(103-105)CTG>CTA		elongation factor RNA polymerase II							46.0	36.0	39.0					19																	18632761		2203	4300	6503	SO:0001819	synonymous_variant	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18632761C>T	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.105G>A	19.37:g.18632761C>T						ELL_uc010ebq.2_5'UTR	p.L35L	NM_006532	NP_006523	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	1	177	-			35						Silent	SNP	ENST00000262809.4	37	c.105G>A	CCDS12380.1																																																																																				0.701	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1		NM_006532		6	24	0	0	0	0.00308	0	6	24		
UBA52	7311	broad.mit.edu	37	19	18684188	18684188	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:18684188C>G	ENST00000442744.2	+	2	136	c.78C>G	c.(76-78)gtC>gtG	p.V26V	UBA52_ENST00000596273.1_Silent_p.V26V|UBA52_ENST00000597451.1_Silent_p.V26V|UBA52_ENST00000596304.1_Silent_p.V26V|UBA52_ENST00000430157.2_Silent_p.V26V|UBA52_ENST00000595683.1_Silent_p.V26V|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000595158.1_Silent_p.V26V|UBA52_ENST00000599551.1_Silent_p.V26V|UBA52_ENST00000598780.1_Silent_p.V26V|UBA52_ENST00000599595.1_Silent_p.V26V	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	26	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						TTGAGAATGTCAAAGCCAAAA	0.552																																						uc002njr.2		NaN																	0					0						c.(76-78)GTC>GTG		ubiquitin and ribosomal protein L40 precursor							68.0	59.0	62.0					19																	18684188		2203	4300	6503	SO:0001819	synonymous_variant	7311				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome	g.chr19:18684188C>G		CCDS12382.1	19p13.1-p12	2011-04-06			ENSG00000221983	ENSG00000221983		"""L ribosomal proteins"""	12458	protein-coding gene	gene with protein product	"""ribosomal protein L40"", ""ubiquitin-52 amino acid fusion protein"", ""ubiquitin carboxyl extension protein 52"", ""60S ribosomal protein L40"", ""ubiquitin-CEP52"""	191321				8188300	Standard	XM_005260051		Approved	RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40	uc002njs.3	P62987		ENST00000442744.2:c.78C>G	19.37:g.18684188C>G						UBA52_uc002njs.2_Silent_p.V26V|UBA52_uc002njt.2_Silent_p.V26V	p.V26V	NM_001033930	NP_001029102	P62987	RL40_HUMAN			2	192	+			26			Ubiquitin-like.		P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000442744.2	37	c.78C>G	CCDS12382.1																																																																																				0.552	UBA52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465117.2		NM_003333		8	47	0	0	0	0.008291	0	8	47		
DDX49	54555	broad.mit.edu	37	19	19033503	19033503	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:19033503C>T	ENST00000247003.4	+	6	793	c.726C>T	c.(724-726)ttC>ttT	p.F242F	AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000438170.2_Silent_p.F135F|DDX49_ENST00000599156.1_Intron	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	242	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			TCCAGCGCTTCCAGGATGAGC	0.627																																						uc002nkq.1		NaN																	0				ovary(1)	1						c.(724-726)TTC>TTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 49							112.0	86.0	95.0					19																	19033503		2203	4300	6503	SO:0001819	synonymous_variant	54555						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr19:19033503C>T		CCDS12390.1	19p12	2008-02-05				ENSG00000105671		"""DEAD-boxes"""	18684	protein-coding gene	gene with protein product							Standard	NM_019070		Approved	FLJ10432	uc002nkq.2	Q9Y6V7		ENST00000247003.4:c.726C>T	19.37:g.19033503C>T						HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Silent_p.F135F|DDX49_uc002nkt.1_Silent_p.F124F	p.F242F	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	Epithelial(12;0.0289)		6	783	+			242			Helicase C-terminal.		E7ENA0|Q53FJ1|Q9BVQ8	Silent	SNP	ENST00000247003.4	37	c.726C>T	CCDS12390.1																																																																																				0.627	DDX49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464593.1		NM_019070		19	143	0	0	0	0.002299	0	19	143		
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398																																						uc002nqp.2		NaN																	0				ovary(5)|skin(2)	7						c.(1639-1641)ATT>AGT		zinc finger protein 208							108.0	112.0	110.0					19																	22155896		2126	4263	6389	SO:0001583	missense	7757							g.chr19:22155896A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1940T>G	19.37:g.22155896A>C	ENSP00000380315:p.Ile647Ser					ZNF208_uc002nqo.1_Intron	p.I547S	NM_007153	NP_009084					5	1789	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1640T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.852850	0.00004	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.34472	1.36	2.49	-4.98	0.03019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.28385	0.089	T	0.08932	-1.0698	8	0.02654	T	1	.	3.9444	0.09343	0.0966:0.28:0.437:0.1864	.	547	O43345	ZN208_HUMAN	S	647;547	ENSP00000380315:I647S	ENSP00000380315:I647S	I	-	2	0	ZNF208	21947736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.082000	0.00014	-4.116000	0.00072	-4.061000	0.00012	ATT		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1		NM_007153		3	56	0	0	0	0.000602	0	3	56		
URI1	8725	broad.mit.edu	37	19	30505917	30505917	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:30505917G>A	ENST00000542441.2	+	11	1846	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	URI1_ENST00000312051.6_Missense_Mutation_p.E477K|URI1_ENST00000392271.1_Missense_Mutation_p.E441K|URI1_ENST00000360605.4_Intron			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	517					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										GGAAGCATCTGAAGAAACTGG	0.433																																						uc002nsr.2		NaN																	0				ovary(1)|kidney(1)	2						c.(1549-1551)GAA>AAA		RPB5-mediating protein isoform a							108.0	107.0	108.0					19																	30505917		2203	4300	6503	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30505917G>A	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1549G>A	19.37:g.30505917G>A	ENSP00000442436:p.Glu517Lys					C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Missense_Mutation_p.E477K|C19orf2_uc002nst.2_Missense_Mutation_p.E441K	p.E517K	NM_003796	NP_003787	O94763	RMP_HUMAN	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)	11	1579	+	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	517					A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.1549G>A	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.921209	0.52653	.	.	ENSG00000105176	ENST00000392271;ENST00000542441;ENST00000312051	T	0.51071	0.72	6.07	6.07	0.98685	.	0.045903	0.85682	D	0.000000	T	0.66346	0.2780	M	0.61703	1.905	0.48975	D	0.999736	D;D	0.61697	0.99;0.983	P;P	0.60682	0.878;0.813	T	0.65269	-0.6209	10	0.66056	D	0.02	-30.3799	20.6439	0.99570	0.0:0.0:1.0:0.0	.	477;517	F8W9T0;O94763	.;RMP_HUMAN	K	441;517;477	ENSP00000442436:E517K	ENSP00000312530:E477K	E	+	1	0	C19orf2	35197757	1.000000	0.71417	0.427000	0.26684	0.241000	0.25554	4.462000	0.60121	2.890000	0.99128	0.650000	0.86243	GAA		0.433	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1		NM_134447		9	60	0	0	0	0.010729	0	9	60		
ANKRD27	84079	broad.mit.edu	37	19	33135288	33135288	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:33135288G>A	ENST00000306065.4	-	5	626	c.468C>T	c.(466-468)atC>atT	p.I156I	ANKRD27_ENST00000587352.1_Silent_p.I156I	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	156					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGAAAGAGGCGATGTTCCTGT	0.532																																						uc002ntn.1		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(466-468)ATC>ATT		ankyrin repeat domain 27 (VPS9 domain)							275.0	268.0	270.0					19																	33135288		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33135288G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.468C>T	19.37:g.33135288G>A						ANKRD27_uc002nto.1_Silent_p.I156I	p.I156I	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			5	624	-	Esophageal squamous(110;0.137)		156					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.468C>T	CCDS32986.1																																																																																				0.532	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1		NM_032139		74	281	0	0	0	0.00361	0	74	281		
ZNF792	126375	broad.mit.edu	37	19	35449696	35449696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:35449696G>A	ENST00000404801.1	-	4	1449	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	ZNF792_ENST00000605484.1_Nonsense_Mutation_p.Q288*	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTCTTATGCTGAATGAGGTTG	0.507																																					GBM(1;7 183 21053 22581 22847)	uc002nxh.1		NaN																	0					0						c.(1063-1065)CAG>TAG		zinc finger protein 792							49.0	44.0	46.0					19																	35449696		2203	4300	6503	SO:0001587	stop_gained	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449696G>A	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1063C>T	19.37:g.35449696G>A	ENSP00000385099:p.Gln355*						p.Q355*	NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	1450	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		355			C2H2-type 5.		B4E333|Q495L1|Q495L3|Q8N932	Nonsense_Mutation	SNP	ENST00000404801.1	37	c.1063C>T	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	g	37	6.553904	0.97658	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	.	.	.	2.66	1.57	0.23409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	7.2133	0.25945	0.0:0.0:0.521:0.479	.	.	.	.	X	355;115	.	ENSP00000368487:Q115X	Q	-	1	0	ZNF792	40141536	0.000000	0.05858	0.055000	0.19348	0.916000	0.54674	-1.677000	0.01944	0.665000	0.31066	0.563000	0.77884	CAG		0.507	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1		NM_175872		12	48	0	0	0	0.001855	0	12	48		
LGI4	163175	broad.mit.edu	37	19	35625566	35625566	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:35625566G>T	ENST00000310123.3	-	1	538	c.19C>A	c.(19-21)Ctg>Atg	p.L7M	LGI4_ENST00000493050.1_Intron|LGI4_ENST00000591633.1_Missense_Mutation_p.L7M|LGI4_ENST00000392225.3_Missense_Mutation_p.L7M	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	7					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCAGCAGCAGAATGCCTGCC	0.687																																						uc002nxx.2		NaN																	0				pancreas(1)	1						c.(19-21)CTG>ATG		leucine-rich repeat LGI family, member 4							9.0	12.0	11.0					19																	35625566		2183	4274	6457	SO:0001583	missense	163175					extracellular region		g.chr19:35625566G>T	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.19C>A	19.37:g.35625566G>T	ENSP00000312273:p.Leu7Met					LGI4_uc002nxy.1_Intron|LGI4_uc002nxz.1_5'Flank|LGI4_uc002nya.2_Missense_Mutation_p.L7M	p.L7M	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		1	613	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		7					B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	c.19C>A	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052595	0.36181	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	T;T	0.66638	-0.22;-0.17	5.0	1.58	0.23477	.	1.554750	0.04594	N	0.397281	T	0.74015	0.3661	L	0.46157	1.445	0.21355	N	0.999712	D;P	0.76494	0.999;0.838	D;B	0.67548	0.952;0.387	T	0.55354	-0.8154	10	0.66056	D	0.02	.	4.9146	0.13840	0.1936:0.1753:0.6311:0.0	.	7;7	Q8N135-2;Q8N135	.;LGI4_HUMAN	M	7	ENSP00000312273:L7M;ENSP00000376059:L7M	ENSP00000312273:L7M	L	-	1	2	LGI4	40317406	0.970000	0.33590	0.930000	0.37139	0.932000	0.56968	1.598000	0.36740	0.489000	0.27749	0.591000	0.81541	CTG		0.687	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1				6	37	1	0	0.00198382	0.001984	0.00202762	6	37		
KMT2B	9757	broad.mit.edu	37	19	36219890	36219890	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:36219890C>T	ENST00000222270.7	+	21	4692	c.4692C>T	c.(4690-4692)ttC>ttT	p.F1564F	KMT2B_ENST00000420124.1_Silent_p.F1564F|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1564					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTTCAGCATTCCAGGGCAAGG	0.602																																						uc010eei.2		NaN																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(4690-4692)TTC>TTT		myeloid/lymphoid or mixed-lineage leukemia 4							77.0	79.0	78.0					19																	36219890		1992	4161	6153	SO:0001819	synonymous_variant	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36219890C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4692C>T	19.37:g.36219890C>T							p.F1564F	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		22	4692	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1564					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.4692C>T	CCDS46055.1																																																																																				0.602	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727		16	151	0	0	0	0.007413	0	16	151		
THAP8	199745	broad.mit.edu	37	19	36545042	36545042	+	Missense_Mutation	SNP	G	G	C	rs201783341		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:36545042G>C	ENST00000292894.1	-	1	622	c.78C>G	c.(76-78)ttC>ttG	p.F26L	THAP8_ENST00000524106.1_Intron|THAP8_ENST00000538849.1_5'UTR|WDR62_ENST00000401500.2_5'Flank|WDR62_ENST00000270301.7_5'Flank|WDR62_ENST00000388999.3_5'Flank	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	26							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCACTTGTAGAAGCTCACAG	0.672																																						uc002oda.1		NaN																	0					0						c.(76-78)TTC>TTG		THAP domain containing 8							35.0	39.0	38.0					19																	36545042		2203	4299	6502	SO:0001583	missense	199745						DNA binding|metal ion binding	g.chr19:36545042G>C	AK057453	CCDS33000.1	19q13.13	2013-01-25			ENSG00000161277	ENSG00000161277		"""THAP (C2CH-type zinc finger) domain containing"""	23191	protein-coding gene	gene with protein product		612536				12575992	Standard	NM_152658		Approved	FLJ32891	uc002oda.1	Q8NA92	OTTHUMG00000048138	ENST00000292894.1:c.78C>G	19.37:g.36545042G>C	ENSP00000292894:p.Phe26Leu					WDR62_uc002odd.2_5'Flank|WDR62_uc002odc.2_5'Flank|THAP8_uc010xtb.1_Intron|THAP8_uc010xtc.1_RNA|WDR62_uc010eer.2_5'Flank|WDR62_uc002odb.2_5'Flank	p.F26L	NM_152658	NP_689871	Q8NA92	THAP8_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		1	623	-	Esophageal squamous(110;0.162)		26			THAP-type.		Q0P5Z7|Q96M21	Missense_Mutation	SNP	ENST00000292894.1	37	c.78C>G	CCDS33000.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433880	0.43224	.	.	ENSG00000161277	ENST00000292894;ENST00000392182	D	0.96265	-3.96	4.27	0.837	0.18896	Zinc finger, C2CH-type (4);	0.000000	0.64402	U	0.000002	D	0.93861	0.8036	L	0.45352	1.415	0.80722	D	1	P	0.46142	0.873	P	0.52031	0.688	D	0.89371	0.3675	10	0.40728	T	0.16	.	3.0461	0.06154	0.2287:0.0:0.5559:0.2154	.	26	Q8NA92	THAP8_HUMAN	L	26	ENSP00000292894:F26L	ENSP00000292894:F26L	F	-	3	2	THAP8	41236882	1.000000	0.71417	0.979000	0.43373	0.960000	0.62799	1.366000	0.34193	0.489000	0.27749	0.462000	0.41574	TTC		0.672	THAP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379036.1		NM_152658		8	58	0	0	0	0.006214	0	8	58		
ZNF260	339324	broad.mit.edu	37	19	37005801	37005801	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:37005801C>T	ENST00000523638.1	-	3	1461	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	ZNF260_ENST00000592282.1_Missense_Mutation_p.E114K|ZNF260_ENST00000593142.1_Missense_Mutation_p.E114K|ZNF260_ENST00000588993.1_Missense_Mutation_p.E114K	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	114					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GAAACTTTTTCACATTCATAA	0.388																																						uc002oee.1		NaN																	0					0						c.(340-342)GAA>AAA		zinc finger protein 260							130.0	126.0	127.0					19																	37005801		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005801C>T	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.340G>A	19.37:g.37005801C>T	ENSP00000429803:p.Glu114Lys					ZNF260_uc002oed.1_Missense_Mutation_p.E111K|ZNF260_uc010eey.1_Missense_Mutation_p.E111K|ZNF260_uc002oef.1_Missense_Mutation_p.E111K	p.E114K	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN			4	1184	-	Esophageal squamous(110;0.162)		114					Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.340G>A	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	C	3.780	-0.045806	0.07452	.	.	ENSG00000254004	ENST00000523638	T	0.01051	5.4	4.72	2.57	0.30868	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.00784	0.0026	N	0.03930	-0.32	0.21652	N	0.999601	B	0.02656	0.0	B	0.06405	0.002	T	0.49072	-0.8977	9	0.54805	T	0.06	.	9.3696	0.38246	0.0:0.8172:0.0:0.1828	.	114	Q3ZCT1	ZN260_HUMAN	K	114	ENSP00000429803:E114K	ENSP00000429803:E114K	E	-	1	0	ZNF260	41697641	0.033000	0.19621	0.019000	0.16419	0.025000	0.11179	1.046000	0.30354	0.668000	0.31126	0.655000	0.94253	GAA		0.388	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2		NM_001012756		13	60	0	0	0	0.001855	0	13	60		
ZNF529	57711	broad.mit.edu	37	19	37038544	37038544	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:37038544C>T	ENST00000591340.1	-	5	1074	c.916G>A	c.(916-918)Gat>Aat	p.D306N	ZNF529_ENST00000334116.7_Missense_Mutation_p.D201N	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	306					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)	1	Esophageal squamous(110;0.198)					GTTTTCTCATCAGTATGGATT	0.388																																						uc002oeh.3		NaN																	0				breast(1)	1						c.(916-918)GAT>AAT		zinc finger protein 529 isoform a							107.0	109.0	108.0					19																	37038544		2079	4248	6327	SO:0001583	missense	57711				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37038544C>T	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.916G>A	19.37:g.37038544C>T	ENSP00000465578:p.Asp306Asn					ZNF529_uc010xth.1_Missense_Mutation_p.D306N|ZNF529_uc010xti.1_Missense_Mutation_p.D288N|ZNF529_uc002oeg.3_Missense_Mutation_p.D201N	p.D306N	NM_020951	NP_066002	Q6P280	ZN529_HUMAN			5	1118	-	Esophageal squamous(110;0.198)		273					K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	c.916G>A	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696190	0.68386	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.34	2.3	0.28687	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23846	0.0577	N	0.16307	0.4	0.19945	N	0.99994	P;P	0.43287	0.764;0.802	B;B	0.40636	0.241;0.335	T	0.08576	-1.0715	8	0.87932	D	0	.	8.9739	0.35924	0.0:0.8837:0.0:0.1163	.	201;273	Q6P280-2;Q6P280	.;ZN529_HUMAN	N	306	.	ENSP00000334695:D306N	D	-	1	0	ZNF529	41730384	0.000000	0.05858	0.093000	0.20910	0.993000	0.82548	1.233000	0.32648	0.594000	0.29761	0.591000	0.81541	GAT		0.388	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1		NM_020951		13	57	0	0	0	0.001855	0	13	57		
ZNF607	84775	broad.mit.edu	37	19	38190626	38190626	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:38190626G>A	ENST00000355202.4	-	5	1001	c.406C>T	c.(406-408)Cat>Tat	p.H136Y	ZNF607_ENST00000395835.3_Missense_Mutation_p.H135Y|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	136					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)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TCACTAGTATGAATTGTTTGA	0.373																																						uc002ohc.1		NaN																	0					0						c.(406-408)CAT>TAT		zinc finger protein 607							148.0	151.0	150.0					19																	38190626		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190626G>A	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.406C>T	19.37:g.38190626G>A	ENSP00000347338:p.His136Tyr					ZNF607_uc002ohb.1_Missense_Mutation_p.H135Y	p.H136Y	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1002	-			136			C2H2-type 1.		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.406C>T	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674166	0.47781	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.28895	1.59;1.59	1.68	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59985	0.2234	M	0.91818	3.245	0.28045	N	0.933592	D;D	0.69078	0.997;0.992	D;D	0.76071	0.987;0.965	T	0.53229	-0.8468	9	0.62326	D	0.03	.	10.3191	0.43756	0.0:0.0:1.0:0.0	.	136;135	Q96SK3;F5H141	ZN607_HUMAN;.	Y	136;135	ENSP00000347338:H136Y;ENSP00000438015:H135Y	ENSP00000347338:H136Y	H	-	1	0	ZNF607	42882466	1.000000	0.71417	0.753000	0.31225	0.414000	0.31173	3.900000	0.56295	0.911000	0.36747	0.491000	0.48974	CAT		0.373	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2		NM_032689		11	83	0	0	0	0.00245	0	11	83		
SIPA1L3	23094	broad.mit.edu	37	19	38692599	38692599	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:38692599G>T	ENST00000222345.6	+	20	5591	c.5082G>T	c.(5080-5082)gaG>gaT	p.E1694D	RN7SL663P_ENST00000578592.1_RNA|CTB-102L5.8_ENST00000598146.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1694					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGAGCCTGGAGAGGGGACCCC	0.647																																						uc002ohk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(5080-5082)GAG>GAT		signal-induced proliferation-associated 1 like							60.0	63.0	62.0					19																	38692599		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38692599G>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.5082G>T	19.37:g.38692599G>T	ENSP00000222345:p.Glu1694Asp						p.E1694D	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		20	5591	+			1694					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.5082G>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808759	0.50421	.	.	ENSG00000105738	ENST00000222345	T	0.30714	1.52	4.82	1.52	0.23074	.	0.549745	0.18962	N	0.126379	T	0.28167	0.0695	L	0.33245	0.995	0.26679	N	0.971589	D	0.53619	0.961	P	0.54140	0.743	T	0.16070	-1.0415	10	0.12430	T	0.62	-35.9849	7.9131	0.29802	0.3352:0.0:0.6648:0.0	.	1694	O60292	SI1L3_HUMAN	D	1694	ENSP00000222345:E1694D	ENSP00000222345:E1694D	E	+	3	2	SIPA1L3	43384439	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	1.303000	0.33470	0.122000	0.18314	-1.036000	0.02392	GAG		0.647	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2		XM_032278		14	136	1	0	1.33834e-09	0.007413	1.41591e-09	14	136		
CATSPERG	57828	broad.mit.edu	37	19	38860798	38860798	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:38860798G>A	ENST00000409235.3	+	28	3228		c.e28-1		CATSPERG_ENST00000215069.4_Splice_Site|CATSPERG_ENST00000410018.1_Splice_Site	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma						cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AACCCCTGCAGAGGAGTGGAC	0.607																																						uc002oih.3		NaN																	0				ovary(1)|skin(1)	2						c.e28-1		cation channel, sperm-associated, gamma							69.0	56.0	60.0					19																	38860798		2203	4300	6503	SO:0001630	splice_region_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38860798G>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3114-1G>A	19.37:g.38860798G>A						CATSPERG_uc002oig.3_Splice_Site_p.R998_splice|CATSPERG_uc002oif.3_Splice_Site_p.R678_splice|CATSPERG_uc010efw.2_Splice_Site	p.R1038_splice	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			28	3201	+								A6NEG6|Q659E1	Splice_Site	SNP	ENST00000409235.3	37	c.3114_splice	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	15.25	2.779273	0.49891	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7604	0.78076	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CATSPERG	43552638	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	5.912000	0.69948	2.800000	0.96347	0.542000	0.68232	.		0.607	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1		NM_021185	Intron	21	79	0	0	0	0.00333	0	21	79		
EIF3K	27335	broad.mit.edu	37	19	39114742	39114742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:39114742C>T	ENST00000592558.1	+	3	242	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	EIF3K_ENST00000545173.2_Nonsense_Mutation_p.Q62*|EIF3K_ENST00000593149.1_5'UTR|EIF3K_ENST00000588934.1_Nonsense_Mutation_p.Q62*|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000538434.1_5'UTR|EIF3K_ENST00000248342.4_Nonsense_Mutation_p.Q62*					eukaryotic translation initiation factor 3, subunit K									p.Q62E(1)	EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGCCTTCTTTCAGACCACGGT	0.562																																						uc002oiz.1		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(184-186)CAG>TAG		eukaryotic translation initiation factor 3,							139.0	119.0	126.0					19																	39114742		2203	4300	6503	SO:0001587	stop_gained	27335				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity	g.chr19:39114742C>T	AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"""eukaryotic translation initiation factor 3, subunit 12"""	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000592558.1:c.184C>T	19.37:g.39114742C>T	ENSP00000468231:p.Gln62*					EIF3K_uc010xuh.1_Nonsense_Mutation_p.Q62*|EIF3K_uc010xui.1_5'UTR	p.Q62*	NM_013234	NP_037366	Q9UBQ5	EIF3K_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	371	+	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		62						Nonsense_Mutation	SNP	ENST00000592558.1	37	c.184C>T		.	.	.	.	.	.	.	.	.	.	c	36	5.672459	0.96754	.	.	ENSG00000178982	ENST00000248342;ENST00000545173	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.4171	17.9625	0.89090	0.0:1.0:0.0:0.0	.	.	.	.	X	62	.	ENSP00000248342:Q62X	Q	+	1	0	EIF3K	43806582	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	7.244000	0.78228	2.721000	0.93114	0.655000	0.94253	CAG		0.562	EIF3K-012	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453416.1		NM_013234		10	115	0	0	0	0.001855	0	10	115		
LGALS4	3960	broad.mit.edu	37	19	39292471	39292471	+	Missense_Mutation	SNP	G	G	A	rs199814280		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:39292471G>A	ENST00000307751.4	-	10	1382	c.905C>T	c.(904-906)tCg>tTg	p.S302L		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	302	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.S302L(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTGGAAGGCCGAGAGGCGATG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		20315	0.001		0.0	False		,,,				2504	0.0					uc002ojg.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(904-906)TCG>TTG		galectin-4							88.0	75.0	80.0					19																	39292471		2203	4300	6503	SO:0001583	missense	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39292471G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.905C>T	19.37:g.39292471G>A	ENSP00000302100:p.Ser302Leu						p.S302L	NM_006149	NP_006140	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		10	1119	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		302			Galectin 2.			Missense_Mutation	SNP	ENST00000307751.4	37	c.905C>T	CCDS12521.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.702	-0.061284	0.07317	.	.	ENSG00000171747	ENST00000307751	T	0.12465	2.68	5.14	-1.23	0.09465	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	2.135830	0.02087	N	0.052815	T	0.13670	0.0331	L	0.45228	1.405	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.32851	-0.9891	10	0.41790	T	0.15	2.7426	7.1088	0.25378	0.1445:0.0:0.5149:0.3406	.	302	P56470	LEG4_HUMAN	L	302	ENSP00000302100:S302L	ENSP00000302100:S302L	S	-	2	0	LGALS4	43984311	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.532000	0.06164	-0.364000	0.08088	-1.247000	0.01520	TCG		0.532	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1		NM_006149		11	85	0	0	0	0.001855	0	11	85		
MED29	55588	broad.mit.edu	37	19	39879228	39879228	+	5'Flank	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:39879228C>T	ENST00000599213.2	+	0	0				MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221266.7_Missense_Mutation_p.E244K|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221265.3_Missense_Mutation_p.E277K|PAF1_ENST00000595564.1_Missense_Mutation_p.E267K			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCATCTCCTCCTCCTGGTCC	0.522																																						uc002old.2		NaN																	0				pancreas(1)	1						c.(829-831)GAG>AAG		Paf1, RNA polymerase II associated factor,							153.0	148.0	150.0					19																	39879228		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39879228C>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879228C>T	Exception_encountered					PAF1_uc002ole.1_Missense_Mutation_p.E267K|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	p.E277K	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		10	1004	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		277					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.829G>A		.	.	.	.	.	.	.	.	.	.	C	18.52	3.641364	0.67244	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	M	0.63843	1.955	0.58432	D	0.999999	P;B	0.49783	0.928;0.444	B;B	0.42959	0.39;0.403	T	0.54768	-0.8244	9	0.20519	T	0.43	-27.3446	15.8198	0.78631	0.0:1.0:0.0:0.0	.	244;277	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	K	277;244;224	.	ENSP00000221265:E277K	E	-	1	0	PAF1	44571068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.663000	0.74431	2.580000	0.87095	0.650000	0.86243	GAG		0.522	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1		XM_290829		29	94	0	0	0	0.008361	0	29	94		
MED29	55588	broad.mit.edu	37	19	39879261	39879261	+	5'Flank	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:39879261C>T	ENST00000599213.2	+	0	0				MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221266.7_Missense_Mutation_p.E233K|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221265.3_Missense_Mutation_p.E266K|PAF1_ENST00000595564.1_Missense_Mutation_p.E256K			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TTCAACGTCTCTTCTACAGGC	0.512																																						uc002old.2		NaN																	0				pancreas(1)	1						c.(796-798)GAG>AAG		Paf1, RNA polymerase II associated factor,							130.0	119.0	123.0					19																	39879261		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39879261C>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879261C>T	Exception_encountered					PAF1_uc002ole.1_Missense_Mutation_p.E256K|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	p.E266K	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		10	971	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		266					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.796G>A		.	.	.	.	.	.	.	.	.	.	C	21.7	4.186941	0.78789	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	5.25	4.23	0.50019	.	0.173242	0.49916	D	0.000139	T	0.48169	0.1485	L	0.39397	1.21	0.42460	D	0.992787	P;P	0.48764	0.915;0.67	P;P	0.48189	0.57;0.472	T	0.38045	-0.9679	9	0.23302	T	0.38	-25.4143	11.6112	0.51059	0.0:0.9147:0.0:0.0853	.	233;266	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	K	266;233;213	.	ENSP00000221265:E266K	E	-	1	0	PAF1	44571101	1.000000	0.71417	0.971000	0.41717	0.966000	0.64601	5.070000	0.64376	1.454000	0.47793	0.650000	0.86243	GAG		0.512	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1		XM_290829		16	68	0	0	0	0.00499	0	16	68		
DMRTC2	63946	broad.mit.edu	37	19	42354706	42354706	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:42354706T>C	ENST00000269945.3	+	8	980	c.929T>C	c.(928-930)gTg>gCg	p.V310A	DMRTC2_ENST00000596827.1_Missense_Mutation_p.V361A	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	310	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GCTCCTCGTGTGACCCCTTCT	0.632																																						uc002ors.2		NaN																	0					0						c.(928-930)GTG>GCG		DMRT-like family C2							51.0	50.0	50.0					19																	42354706		2203	4300	6503	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42354706T>C	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.929T>C	19.37:g.42354706T>C	ENSP00000269945:p.Val310Ala					DMRTC2_uc002orr.1_Missense_Mutation_p.V238A|DMRTC2_uc010xwe.1_Missense_Mutation_p.V361A	p.V310A	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN			8	1012	+			310			Pro-rich.		Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.929T>C	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	T	9.130	1.011110	0.19277	.	.	ENSG00000142025	ENST00000269945	T	0.31247	1.5	4.5	4.5	0.54988	.	0.658236	0.13195	N	0.406450	T	0.15998	0.0385	N	0.08118	0	0.25516	N	0.987411	B;B	0.25609	0.13;0.017	B;B	0.23852	0.049;0.023	T	0.15607	-1.0431	10	0.20519	T	0.43	-1.5444	10.7608	0.46264	0.0:0.0:0.0:1.0	.	361;310	B4DX56;Q8IXT2	.;DMRTD_HUMAN	A	310	ENSP00000269945:V310A	ENSP00000269945:V310A	V	+	2	0	DMRTC2	47046546	0.963000	0.33076	1.000000	0.80357	0.635000	0.38103	2.317000	0.43770	1.992000	0.58205	0.477000	0.44152	GTG		0.632	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1		NM_001040283		21	74	0	0	0	0.003954	0	21	74		
GRIK5	2901	broad.mit.edu	37	19	42509942	42509942	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:42509942G>A	ENST00000262895.3	-	16	2195	c.2196C>T	c.(2194-2196)ctC>ctT	p.L732L	GRIK5_ENST00000593562.1_Silent_p.L732L|GRIK5_ENST00000301218.4_Silent_p.L732L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	732					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GGTTGCAGTTGAGGCGCCGGT	0.622																																						uc002osj.1		NaN																	0					0						c.(2194-2196)CTC>CTT		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						125.0	86.0	99.0					19																	42509942		2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42509942G>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2196C>T	19.37:g.42509942G>A						GRIK5_uc002osi.1_Silent_p.L304L	p.L732L	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			16	2231	-		Prostate(69;0.059)	732			Extracellular (Potential).		Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.2196C>T	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447300	0.25987	.	.	ENSG00000105737	ENST00000454993	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5664	0.87921	0.0:0.0:1.0:0.0	.	.	.	.	X	109	.	.	Q	-	1	0	GRIK5	47201782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.939000	0.56591	2.450000	0.82876	0.563000	0.77884	CAA		0.622	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1				6	50	0	0	0	0.001984	0	6	50		
ZNF526	116115	broad.mit.edu	37	19	42728868	42728868	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:42728868G>A	ENST00000301215.3	+	3	538	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCCGGGTGCTGAGGGGCCCTT	0.622																																						uc002osz.1		NaN																	0					0						c.(313-315)GAG>AAG		zinc finger protein 526							55.0	57.0	56.0					19																	42728868		2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42728868G>A	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.313G>A	19.37:g.42728868G>A	ENSP00000301215:p.Glu105Lys						p.E105K	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			3	469	+		Prostate(69;0.0704)	105					B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.313G>A	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830894	0.32329	.	.	ENSG00000167625	ENST00000301215	T	0.34859	1.34	4.59	3.54	0.40534	.	0.686262	0.13668	N	0.371057	T	0.21761	0.0524	N	0.24115	0.695	0.22342	N	0.999189	B	0.27559	0.181	B	0.21708	0.036	T	0.13953	-1.0490	9	.	.	.	.	7.8273	0.29322	0.0882:0.1658:0.746:0.0	.	105	Q8TF50	ZN526_HUMAN	K	105	ENSP00000301215:E105K	.	E	+	1	0	ZNF526	47420708	0.928000	0.31464	0.825000	0.32803	0.377000	0.30045	2.098000	0.41757	1.283000	0.44513	0.462000	0.41574	GAG		0.622	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2		XM_057401		10	137	0	0	0	0.001368	0	10	137		
CIC	23152	broad.mit.edu	37	19	42798383	42798383	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:42798383C>A	ENST00000575354.2	+	18	4294	c.4254C>A	c.(4252-4254)tcC>tcA	p.S1418S	CIC_ENST00000160740.3_Silent_p.S1416S|CIC_ENST00000572681.2_Silent_p.S2324S	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAAGACGCTCCAGCTGCAGCT	0.617			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1		NaN		Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		0				ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(4252-4254)TCC>TCA		capicua homolog							72.0	75.0	74.0					19																	42798383		2203	4300	6503	SO:0001819	synonymous_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42798383C>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4254C>A	19.37:g.42798383C>A							p.S1418S	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			18	4294	+		Prostate(69;0.00682)	1418					Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	c.4254C>A	CCDS12601.1																																																																																				0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2				39	127	1	0	2.24893e-16	0.009718	2.41676e-16	39	127		
CD177	57126	broad.mit.edu	37	19	43864482	43864482	+	RNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:43864482G>A	ENST00000607109.1	-	0	918				CD177_ENST00000378009.4_RNA|CD177_ENST00000607517.1_RNA																							AGAACCCACTGATTGGACCAC	0.542																																						uc002owi.2		NaN																	0				central_nervous_system(1)	1						c.(685-687)GAT>AAT		CD177 molecule precursor							61.0	66.0	64.0					19																	43864482		2015	4177	6192			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43864482G>A																													19.37:g.43864482G>A						CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	p.D229N	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN			6	727	+		Prostate(69;0.00682)	229						Missense_Mutation	SNP	ENST00000607109.1	37	c.685G>A																																																																																					0.542	CTC-490G23.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000470165.1				5	29	0	0	0	0.001168	0	5	29		
PLAUR	5329	broad.mit.edu	37	19	44160637	44160637	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:44160637C>T	ENST00000340093.3	-	4	695	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	PLAUR_ENST00000601723.1_Missense_Mutation_p.E156K|PLAUR_ENST00000221264.4_Missense_Mutation_p.E156K|PLAUR_ENST00000339082.3_Missense_Mutation_p.E156K	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	156	UPAR/Ly6 2.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCACCTTCTTCACCTTCCTGG	0.577																																						uc002oxf.1		NaN																	0				ovary(1)	1						c.(466-468)GAA>AAA		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)						155.0	149.0	151.0					19																	44160637		2203	4300	6503	SO:0001583	missense	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44160637C>T		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.466G>A	19.37:g.44160637C>T	ENSP00000339328:p.Glu156Lys					PLAUR_uc002oxd.1_Missense_Mutation_p.E156K|PLAUR_uc002oxe.1_Missense_Mutation_p.E151K|PLAUR_uc002oxg.1_Missense_Mutation_p.E156K	p.E156K	NM_002659	NP_002650	Q03405	UPAR_HUMAN			4	696	-		Prostate(69;0.0153)	156			UPAR/Ly6 2.		A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	ENST00000340093.3	37	c.466G>A	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853442	0.32791	.	.	ENSG00000011422	ENST00000339082;ENST00000340093;ENST00000221264	T;T;T	0.30714	1.52;1.52;1.52	1.23	1.23	0.21249	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	2.111460	0.02528	N	0.093288	T	0.33381	0.0861	N	0.14661	0.345	0.25710	N	0.985495	P;P;P;P	0.49696	0.927;0.817;0.817;0.503	P;P;P;B	0.61328	0.801;0.887;0.887;0.066	T	0.31503	-0.9941	10	0.25106	T	0.35	.	5.3503	0.16032	0.0:1.0:0.0:0.0	.	156;156;156;156	Q03405-3;Q03405;Q9UPI5;Q03405-2	.;UPAR_HUMAN;.;.	K	156	ENSP00000342049:E156K;ENSP00000339328:E156K;ENSP00000221264:E156K	ENSP00000221264:E156K	E	-	1	0	PLAUR	48852477	0.051000	0.20477	0.353000	0.25747	0.060000	0.15804	0.011000	0.13264	0.308000	0.22923	0.313000	0.20887	GAA		0.577	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1		NM_002659		37	295	0	0	0	0.00874	0	37	295		
ZNF221	7638	broad.mit.edu	37	19	44470216	44470216	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:44470216C>T	ENST00000251269.5	+	6	890	c.562C>T	c.(562-564)Cat>Tat	p.H188Y	ZNF221_ENST00000592350.1_Missense_Mutation_p.H188Y|ZNF221_ENST00000587682.1_Missense_Mutation_p.H188Y	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CTTTGATCTTCATCAACAATC	0.408																																						uc002oxx.2		NaN																	0				skin(1)	1						c.(562-564)CAT>TAT		zinc finger protein 221							134.0	124.0	128.0					19																	44470216		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44470216C>T	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.562C>T	19.37:g.44470216C>T	ENSP00000251269:p.His188Tyr					ZNF221_uc010ejb.1_Missense_Mutation_p.H188Y|ZNF221_uc010xws.1_Missense_Mutation_p.H188Y	p.H188Y	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN			6	890	+		Prostate(69;0.0352)	188			C2H2-type 1.		B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.562C>T	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	c	19.28	3.797780	0.70567	.	.	ENSG00000159905	ENST00000251269	D	0.86769	-2.17	2.59	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94522	0.8236	H	0.96208	3.785	0.28402	N	0.918599	D	0.67145	0.996	P	0.61592	0.891	D	0.88564	0.3125	9	0.66056	D	0.02	.	12.2846	0.54786	0.0:1.0:0.0:0.0	.	188	Q9UK13	ZN221_HUMAN	Y	188	ENSP00000251269:H188Y	ENSP00000251269:H188Y	H	+	1	0	ZNF221	49162056	0.023000	0.18921	0.237000	0.24090	0.327000	0.28475	1.066000	0.30604	1.430000	0.47334	0.462000	0.41574	CAT		0.408	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1				25	88	0	0	0	0.009535	0	25	88		
ZNF112	7771	broad.mit.edu	37	19	44832181	44832181	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:44832181G>A	ENST00000337401.4	-	5	2235	c.2147C>T	c.(2146-2148)tCt>tTt	p.S716F	ZNF112_ENST00000536500.1_Missense_Mutation_p.S733F|ZNF112_ENST00000354340.4_Missense_Mutation_p.S710F	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	716					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TCTTTCTCCAGAATGGACACT	0.453																																						uc010ejj.2		NaN																	0				ovary(3)|skin(2)	5						c.(2146-2148)TCT>TTT		zinc finger protein 228 isoform 1							164.0	144.0	151.0					19																	44832181		2203	4300	6503	SO:0001583	missense	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44832181G>A	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2147C>T	19.37:g.44832181G>A	ENSP00000337081:p.Ser716Phe					ZFP112_uc002ozc.3_Missense_Mutation_p.S710F|ZFP112_uc010xwy.1_Missense_Mutation_p.S733F|ZFP112_uc010xwz.1_Missense_Mutation_p.S715F	p.S716F	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	2260	-			716					A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.2147C>T	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586357	0.46110	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.19806	2.12;2.12;2.12	5.1	5.1	0.69264	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.272597	0.19504	N	0.112672	T	0.39963	0.1098	M	0.83603	2.65	0.30912	N	0.729003	P;P;P	0.49559	0.877;0.925;0.877	B;P;B	0.48141	0.365;0.568;0.365	T	0.53408	-0.8443	10	0.87932	D	0	-9.4041	17.6377	0.88128	0.0:0.0:1.0:0.0	.	715;733;716	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	F	716;716;710;733;715	ENSP00000337081:S716F;ENSP00000346305:S710F;ENSP00000441990:S733F	ENSP00000253426:S715F	S	-	2	0	ZNF285	49524021	0.981000	0.34729	0.998000	0.56505	0.968000	0.65278	2.429000	0.44758	2.534000	0.85438	0.655000	0.94253	TCT		0.453	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1		NM_013380		7	44	0	0	0	0.006214	0	7	44		
CBLC	23624	broad.mit.edu	37	19	45287647	45287647	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:45287647G>A	ENST00000270279.3	+	5	969	c.906G>A	c.(904-906)caG>caA	p.Q302Q	CBLC_ENST00000341505.4_Intron	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	302	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TGGAGGGACAGAAGGACGGCT	0.582			M		AML						OREG0025542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ozs.2		NaN		Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		0				ovary(4)|lung(1)|skin(1)	6						c.(904-906)CAG>CAA		Cas-Br-M (murine) ecotropic retroviral							69.0	59.0	62.0					19																	45287647		2203	4300	6503	SO:0001819	synonymous_variant	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45287647G>A	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.906G>A	19.37:g.45287647G>A			OREG0025542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	CBLC_uc010ejt.2_Intron	p.Q302Q	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN			5	969	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	302			SH2-like.|Cbl-PTB.		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Silent	SNP	ENST00000270279.3	37	c.906G>A	CCDS12643.1																																																																																				0.582	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2		NM_012116		21	98	0	0	0	0.00333	0	21	98		
CLPTM1	1209	broad.mit.edu	37	19	45490661	45490661	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:45490661G>A	ENST00000337392.5	+	8	1168	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	CLPTM1_ENST00000546079.1_Missense_Mutation_p.E238K|CLPTM1_ENST00000541297.2_Missense_Mutation_p.E326K	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	340					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCAGTCAGATGAGGAGCAGGA	0.632																																						uc002pai.2		NaN																	0				ovary(1)	1						c.(1018-1020)GAG>AAG		cleft lip and palate associated transmembrane							53.0	49.0	50.0					19																	45490661		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45490661G>A	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1018G>A	19.37:g.45490661G>A	ENSP00000336994:p.Glu340Lys					CLPTM1_uc010ejv.1_Missense_Mutation_p.E238K|CLPTM1_uc010xxf.1_Missense_Mutation_p.E238K|CLPTM1_uc010xxg.1_Missense_Mutation_p.E326K	p.E340K	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	8	1033	+		all_neural(266;0.224)|Ovarian(192;0.231)	340			Extracellular (Potential).		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1018G>A	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081176	0.94050	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	4.51	4.51	0.55191	.	0.174299	0.49305	D	0.000154	T	0.51907	0.1702	L	0.41906	1.305	0.80722	D	1	P;P;P	0.45283	0.855;0.775;0.775	P;P;P	0.48189	0.57;0.543;0.543	T	0.47824	-0.9087	9	0.05959	T	0.93	-31.8671	14.8528	0.70309	0.0:0.0:1.0:0.0	.	326;340;340	F5H8J3;B3KQH2;O96005	.;.;CLPT1_HUMAN	K	238;326;340;340	.	ENSP00000336994:E340K	E	+	1	0	CLPTM1	50182501	1.000000	0.71417	0.980000	0.43619	0.929000	0.56500	8.953000	0.93041	2.357000	0.79964	0.650000	0.86243	GAG		0.632	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1		NM_001294		10	84	0	0	0	0.004007	0	10	84		
GPR4	2828	broad.mit.edu	37	19	46094942	46094942	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:46094942G>C	ENST00000323040.4	-	2	1127	c.183C>G	c.(181-183)atC>atG	p.I61M	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	61					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCAGGTCGGCGATGCTGAGGT	0.647																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.2		NaN																	0				ovary(2)	2						c.(181-183)ATC>ATG		G protein-coupled receptor 4							110.0	91.0	97.0					19																	46094942		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094942G>C	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.183C>G	19.37:g.46094942G>C	ENSP00000319744:p.Ile61Met					OPA3_uc010xxk.1_Intron	p.I61M	NM_005282	NP_005273	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1128	-			61			Helical; Name=2; (Potential).		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.183C>G	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658171	0.47467	.	.	ENSG00000177464	ENST00000323040	T	0.42513	0.97	5.09	-3.86	0.04230	GPCR, rhodopsin-like superfamily (1);	0.095984	0.43579	D	0.000550	T	0.32496	0.0831	L	0.35414	1.06	0.35097	D	0.764838	P	0.43392	0.805	P	0.49387	0.609	T	0.38001	-0.9681	10	0.45353	T	0.12	.	6.6787	0.23108	0.2289:0.3241:0.447:0.0	.	61	P46093	GPR4_HUMAN	M	61	ENSP00000319744:I61M	ENSP00000319744:I61M	I	-	3	3	GPR4	50786782	0.435000	0.25577	0.984000	0.44739	0.937000	0.57800	-0.369000	0.07533	-0.413000	0.07507	0.297000	0.19635	ATC		0.647	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1		NM_005282		13	176	0	0	0	0.003163	0	13	176		
GPR4	2828	broad.mit.edu	37	19	46094948	46094948	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:46094948G>A	ENST00000323040.4	-	2	1121	c.177C>T	c.(175-177)ctC>ctT	p.L59L	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	59					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGGCGATGCTGAGGTTCATCA	0.642																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.2		NaN																	0				ovary(2)	2						c.(175-177)CTC>CTT		G protein-coupled receptor 4							107.0	87.0	94.0					19																	46094948		2203	4300	6503	SO:0001819	synonymous_variant	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094948G>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.177C>T	19.37:g.46094948G>A						OPA3_uc010xxk.1_Intron	p.L59L	NM_005282	NP_005273	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1122	-			59			Helical; Name=2; (Potential).		A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	c.177C>T	CCDS12669.1																																																																																				0.642	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1		NM_005282		9	175	0	0	0	0.001368	0	9	175		
GIPR	2696	broad.mit.edu	37	19	46174547	46174547	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:46174547C>T	ENST00000590918.1	+	4	276	c.177C>T	c.(175-177)ctC>ctT	p.L59L	GIPR_ENST00000304207.8_Intron|GIPR_ENST00000263281.3_Silent_p.L59L	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	59					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CCCCAGGCCTCGCCTGTAACG	0.667																																						uc002pcu.1		NaN																	0				skin(1)	1						c.(175-177)CTC>CTT		gastric inhibitory polypeptide receptor							103.0	83.0	90.0					19																	46174547		2203	4300	6503	SO:0001819	synonymous_variant	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46174547C>T		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.177C>T	19.37:g.46174547C>T						GIPR_uc002pct.1_Silent_p.L59L|GIPR_uc010xxp.1_Intron|GIPR_uc010xxq.1_RNA	p.L59L	NM_000164	NP_000155	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	4	276	+		Ovarian(192;0.051)|all_neural(266;0.112)	59			Extracellular (Potential).		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Silent	SNP	ENST00000590918.1	37	c.177C>T	CCDS12671.1																																																																																				0.667	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1				24	185	0	0	0	0.004656	0	24	185		
EHD2	30846	broad.mit.edu	37	19	48244378	48244378	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:48244378G>A	ENST00000263277.3	+	6	1572	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	EHD2_ENST00000538399.1_Missense_Mutation_p.E305K|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	441					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CTCGGACGACGAGGCCGAGTG	0.657																																						uc002phj.3		NaN																	0				ovary(1)|skin(1)	2						c.(1321-1323)GAG>AAG		EH-domain containing 2							76.0	63.0	67.0					19																	48244378		2203	4299	6502	SO:0001583	missense	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48244378G>A	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1321G>A	19.37:g.48244378G>A	ENSP00000263277:p.Glu441Lys					EHD2_uc010xyu.1_Missense_Mutation_p.E305K|EHD2_uc010xyv.1_Missense_Mutation_p.E124K	p.E441K	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	6	1571	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	441					B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	c.1321G>A	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597401	0.46318	.	.	ENSG00000024422	ENST00000263277;ENST00000540364;ENST00000538399;ENST00000540884	T;T	0.23348	2.23;1.91	4.13	4.13	0.48395	EF-hand-like domain (1);	0.279758	0.33040	N	0.005353	T	0.20659	0.0497	L	0.37697	1.125	0.80722	D	1	B	0.21452	0.056	B	0.20384	0.029	T	0.04467	-1.0949	9	.	.	.	-19.3214	14.267	0.66126	0.0:0.0:1.0:0.0	.	441	Q9NZN4	EHD2_HUMAN	K	441;431;305;124	ENSP00000263277:E441K;ENSP00000439036:E305K	.	E	+	1	0	EHD2	52936190	1.000000	0.71417	0.975000	0.42487	0.093000	0.18481	7.227000	0.78070	2.024000	0.59613	0.561000	0.74099	GAG		0.657	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1				12	89	0	0	0	0.004007	0	12	89		
PPFIA3	8541	broad.mit.edu	37	19	49652018	49652018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:49652018G>A	ENST00000334186.4	+	25	3456	c.3107G>A	c.(3106-3108)cGa>cAa	p.R1036Q	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R1027Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1036					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ACCCAGATCCGAGGTGAGTAG	0.587																																						uc002pmr.2		NaN																	0				lung(1)	1						c.(3106-3108)CGA>CAA		PTPRF interacting protein alpha 3							63.0	57.0	59.0					19																	49652018		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49652018G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3107G>A	19.37:g.49652018G>A	ENSP00000335614:p.Arg1036Gln					PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.R895Q|PPFIA3_uc002pmt.2_Missense_Mutation_p.R175Q|PPFIA3_uc002pmu.1_Missense_Mutation_p.R85Q	p.R1036Q	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	25	3439	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	1036			Potential.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.3107G>A	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607026	0.66558	.	.	ENSG00000177380	ENST00000334186	T	0.41758	0.99	4.91	4.91	0.64330	Sterile alpha motif/pointed domain (1);	0.496162	0.14414	N	0.321082	T	0.24774	0.0601	N	0.11724	0.165	0.80722	D	1	B;B	0.21071	0.051;0.038	B;B	0.17433	0.018;0.002	T	0.09228	-1.0684	10	0.48119	T	0.1	0.3955	7.9393	0.29948	0.1793:0.0:0.8207:0.0	.	1027;1036	O75145-2;O75145	.;LIPA3_HUMAN	Q	1036	ENSP00000335614:R1036Q	ENSP00000335614:R1036Q	R	+	2	0	PPFIA3	54343830	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.010000	0.64004	2.436000	0.82500	0.591000	0.81541	CGA		0.587	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1		NM_003660		5	45	0	0	0	0.001168	0	5	45		
CD37	951	broad.mit.edu	37	19	49840236	49840236	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:49840236C>T	ENST00000323906.4	+	3	354	c.213C>T	c.(211-213)atC>atT	p.I71I	CD37_ENST00000535669.2_Silent_p.I71I|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000426897.2_Silent_p.I3I|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000598095.1_Silent_p.I3I	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	71					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CCATGGGCATCGCCCTCCTGG	0.617																																						uc002pnd.2		NaN																	0					0						c.(211-213)ATC>ATT		CD37 antigen isoform A							86.0	75.0	79.0					19																	49840236		2203	4300	6503	SO:0001819	synonymous_variant	951					integral to membrane		g.chr19:49840236C>T		CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.213C>T	19.37:g.49840236C>T						uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Silent_p.I71I|CD37_uc010yan.1_Silent_p.I3I|CD37_uc002pnf.3_Silent_p.I43I|CD37_uc002pne.2_Silent_p.I3I	p.I71I	NM_001774	NP_001765	P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	3	334	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	71			Helical; (Potential).		B4DVC1|Q3KPF9	Silent	SNP	ENST00000323906.4	37	c.213C>T	CCDS12760.1																																																																																				0.617	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1				16	63	0	0	0	0.00499	0	16	63		
NUP62	23636	broad.mit.edu	37	19	50413062	50413062	+	Start_Codon_SNP	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:50413062C>T	ENST00000596217.1	-	2	1890	c.3G>A	c.(1-3)atG>atA	p.M1I	NUP62_ENST00000352066.3_Start_Codon_SNP_p.M1I|NUP62_ENST00000422090.2_Start_Codon_SNP_p.M1I|IL4I1_ENST00000595948.1_Intron|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000600583.1_5'UTR|NUP62_ENST00000597723.1_Start_Codon_SNP_p.M1I|NUP62_ENST00000413454.1_Start_Codon_SNP_p.M1I|NUP62_ENST00000597029.1_Start_Codon_SNP_p.M1I|IL4I1_ENST00000341114.3_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	1					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TAAACCCGCTCATGGCTCCGG	0.547																																						uc002pqx.2		NaN																	0					0						c.(1-3)ATG>ATA		nucleoporin 62kDa							22.0	27.0	25.0					19																	50413062		2193	4293	6486	SO:0001582	initiator_codon_variant	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50413062C>T	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.3G>A	19.37:g.50413062C>T	ENSP00000471191:p.Met1Ile					IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.M1I|NUP62_uc002pqz.2_Missense_Mutation_p.M1I|NUP62_uc002pra.2_Missense_Mutation_p.M1I|NUP62_uc002prb.2_Missense_Mutation_p.M1I|NUP62_uc002prc.2_Missense_Mutation_p.M1I	p.M1I	NM_153719	NP_714941	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	107	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	1			15 X 9 AA approximate repeats.|1.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	c.3G>A	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.719771	0.48728	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.44482	0.92;0.92;0.92	5.09	4.03	0.46877	.	0.163888	0.41823	U	0.000805	T	0.36331	0.0963	.	.	.	0.80722	D	1	P;B	0.34587	0.458;0.329	B;B	0.35039	0.194;0.095	T	0.25187	-1.0139	9	0.44086	T	0.13	-17.1724	13.4364	0.61086	0.0:0.8411:0.1589:0.0	.	1;1	Q8WYU3;P37198	.;NUP62_HUMAN	I	1	ENSP00000305503:M1I;ENSP00000407331:M1I;ENSP00000387991:M1I	ENSP00000321866:M1I	M	-	3	0	NUP62	55104874	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.930000	0.56522	1.468000	0.48064	0.655000	0.94253	ATG		0.547	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1		NM_153719	Missense_Mutation	7	58	0	0	0	0.001368	0	7	58		
ETFB	2109	broad.mit.edu	37	19	51848565	51848565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:51848565G>A	ENST00000309244.4	-	6	759	c.668C>T	c.(667-669)tCt>tTt	p.S223F	CTD-2616J11.16_ENST00000594311.1_RNA|ETFB_ENST00000354232.4_Missense_Mutation_p.S314F|CTD-2616J11.16_ENST00000601148.1_RNA|CTD-2616J11.9_ENST00000600974.1_RNA	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	223					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		ACTGATCACAGAGAGCTTGGA	0.592																																						uc002pwh.2		NaN																	0					0						c.(667-669)TCT>TTT		electron-transfer-flavoprotein, beta polypeptide							135.0	119.0	124.0					19																	51848565		2203	4300	6503	SO:0001583	missense	2109				respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity	g.chr19:51848565G>A	X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.668C>T	19.37:g.51848565G>A	ENSP00000311930:p.Ser223Phe					ETFB_uc002pwg.2_Missense_Mutation_p.S314F	p.S223F	NM_001985	NP_001976	P38117	ETFB_HUMAN		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)	6	760	-		all_neural(266;0.0199)	223					A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	ENST00000309244.4	37	c.668C>T	CCDS12828.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134142	0.56828	.	.	ENSG00000105379	ENST00000309244;ENST00000354232	D;D	0.82526	-1.62;-1.62	4.2	4.2	0.49525	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.424937	0.24305	N	0.039695	D	0.83649	0.5300	L	0.49126	1.545	0.24671	N	0.99342	B;D	0.58970	0.28;0.984	B;P	0.54210	0.175;0.745	T	0.76675	-0.2872	10	0.87932	D	0	.	10.3777	0.44092	0.0:0.1987:0.8013:0.0	.	223;314	P38117;P38117-2	ETFB_HUMAN;.	F	223;314	ENSP00000311930:S223F;ENSP00000346173:S314F	ENSP00000311930:S223F	S	-	2	0	ETFB	56540377	0.062000	0.20869	0.389000	0.26208	0.746000	0.42486	2.508000	0.45450	2.626000	0.88956	0.655000	0.94253	TCT		0.592	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1				11	88	0	0	0	0.010729	0	11	88		
ZNF808	388558	broad.mit.edu	37	19	53056414	53056414	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:53056414G>C	ENST00000359798.4	+	5	425	c.245G>C	c.(244-246)aGa>aCa	p.R82T		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	82	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAAGGCAATAGAGAAGTGATC	0.363																																						uc010epq.1		NaN																	0					0						c.(244-246)AGA>ACA		zinc finger protein 808							153.0	158.0	156.0					19																	53056414		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53056414G>C	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.245G>C	19.37:g.53056414G>C	ENSP00000352846:p.Arg82Thr					ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	p.R82T	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	422	+			82			KRAB.		Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.245G>C	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.406889	0.00193	.	.	ENSG00000198482	ENST00000359798;ENST00000465448;ENST00000486474;ENST00000461779;ENST00000461321	T;T;T;T;T	0.05258	3.47;5.6;3.85;4.99;5.55	1.57	-3.14	0.05250	Krueppel-associated box (3);	.	.	.	.	T	0.02119	0.0066	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44574	-0.9319	9	0.12430	T	0.62	.	4.4207	0.11479	0.2332:0.4195:0.3473:0.0	.	82	Q8N4W9	ZN808_HUMAN	T	82;82;13;82;82	ENSP00000352846:R82T;ENSP00000419291:R82T;ENSP00000418528:R13T;ENSP00000417727:R82T;ENSP00000418696:R82T	ENSP00000352846:R82T	R	+	2	0	ZNF808	57748226	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.514000	0.00222	-1.834000	0.01193	-0.676000	0.03789	AGA		0.363	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3		NM_001039886		23	163	0	0	0	0.003954	0	23	163		
ZNF600	162966	broad.mit.edu	37	19	53270485	53270485	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:53270485G>A	ENST00000338230.3	-	3	791	c.524C>T	c.(523-525)tCa>tTa	p.S175L		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	175					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(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CCTTAAGAGTGAGCTACAATT	0.373																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	uc002qab.3		NaN																	0					0						c.(523-525)TCA>TTA		zinc finger protein 600							110.0	118.0	115.0					19																	53270485		2203	4297	6500	SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270485G>A	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.524C>T	19.37:g.53270485G>A	ENSP00000344791:p.Ser175Leu						p.S175L	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	810	-			175			C2H2-type 1; degenerate.		Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.524C>T	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	12.48	1.951819	0.34471	.	.	ENSG00000189190	ENST00000338230	T	0.17691	2.26	1.57	0.156	0.14910	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37571	0.1008	M	0.82716	2.605	0.09310	N	1	D	0.63880	0.993	D	0.72338	0.977	T	0.09314	-1.0680	9	0.87932	D	0	.	4.9579	0.14052	0.0:0.2194:0.5604:0.2202	.	175	Q6ZNG1	ZN600_HUMAN	L	175	ENSP00000344791:S175L	ENSP00000344791:S175L	S	-	2	0	ZNF600	57962297	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	0.092000	0.15066	0.877000	0.35895	0.298000	0.19748	TCA		0.373	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1		NM_198457		15	74	0	0	0	0.006122	0	15	74		
ZNF160	90338	broad.mit.edu	37	19	53572607	53572607	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:53572607C>G	ENST00000429604.1	-	7	1595	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	ZNF160_ENST00000599056.1_Missense_Mutation_p.E394Q|ZNF160_ENST00000601421.1_Missense_Mutation_p.E358Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.E394Q	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	394					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TAAGGTTTCTCTCCAGTGTGA	0.398																																						uc010eqk.2		NaN																	0				central_nervous_system(1)	1						c.(1180-1182)GAG>CAG		zinc finger protein 160							108.0	110.0	109.0					19																	53572607		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572607C>G	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1180G>C	19.37:g.53572607C>G	ENSP00000406201:p.Glu394Gln					ZNF160_uc002qaq.3_Missense_Mutation_p.E394Q|ZNF160_uc002qar.3_Missense_Mutation_p.E394Q	p.E394Q	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	7	1596	-			394					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.1180G>C	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790629	0.70452	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.25912	1.77;1.77	2.47	2.47	0.30058	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39410	0.1077	L	0.48935	1.535	0.80722	D	1	D	0.76494	0.999	D	0.64506	0.926	T	0.34477	-0.9827	9	0.87932	D	0	.	12.0276	0.53380	0.0:1.0:0.0:0.0	.	394	Q9HCG1	ZN160_HUMAN	Q	394	ENSP00000406201:E394Q;ENSP00000409597:E394Q	ENSP00000409597:E394Q	E	-	1	0	ZNF160	58264419	0.763000	0.28462	0.983000	0.44433	0.863000	0.49368	2.818000	0.48041	1.361000	0.45981	0.561000	0.74099	GAG		0.398	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2		NM_033288		13	149	0	0	0	0.001855	0	13	149		
ZNF347	84671	broad.mit.edu	37	19	53643596	53643596	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:53643596C>G	ENST00000334197.7	-	5	2553	c.2485G>C	c.(2485-2487)Gag>Cag	p.E829Q	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.E830Q|ZNF347_ENST00000601469.2_Missense_Mutation_p.E830Q	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	829					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GGTTTGAACTCTGACTTTAGA	0.398																																					Melanoma(64;205 1597 17324 45721)	uc002qbb.1		NaN																	0					0						c.(2485-2487)GAG>CAG		zinc finger protein 347							173.0	167.0	169.0					19																	53643596		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53643596C>G	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2485G>C	19.37:g.53643596C>G	ENSP00000334146:p.Glu829Gln					ZNF347_uc010eql.1_Missense_Mutation_p.E830Q|ZNF347_uc002qbc.1_Missense_Mutation_p.E830Q	p.E829Q	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2554	-			829					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2485G>C	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	0.467	-0.886078	0.02511	.	.	ENSG00000197937	ENST00000334197;ENST00000452676;ENST00000436933	T;T	0.07114	3.22;3.22	2.35	-4.7	0.03288	.	.	.	.	.	T	0.01835	0.0058	N	0.01874	-0.695	0.09310	N	1	B;B	0.18741	0.03;0.0	B;B	0.15052	0.012;0.001	T	0.28839	-1.0031	9	0.02654	T	1	.	2.1135	0.03708	0.1863:0.4227:0.1866:0.2045	.	830;829	G5E9N4;Q96SE7	.;ZN347_HUMAN	Q	829;830;86	ENSP00000334146:E829Q;ENSP00000405218:E830Q	ENSP00000334146:E829Q	E	-	1	0	ZNF347	58335408	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.265000	0.08644	-2.736000	0.00381	-0.391000	0.06502	GAG		0.398	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1		NM_032584		29	112	0	0	0	0.003755	0	29	112		
MBOAT7	79143	broad.mit.edu	37	19	54692090	54692090	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:54692090G>A	ENST00000245615.1	-	3	667	c.187C>T	c.(187-189)Ctc>Ttc	p.L63F	TSEN34_ENST00000396383.1_5'Flank|MBOAT7_ENST00000431666.2_Missense_Mutation_p.P32L|TSEN34_ENST00000302937.4_5'Flank|MBOAT7_ENST00000391754.1_Missense_Mutation_p.L63F|MBOAT7_ENST00000338624.6_Missense_Mutation_p.P32L|MBOAT7_ENST00000474910.1_5'UTR|TSEN34_ENST00000429671.2_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	63					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCTGAATGAGGGCCCAGGTC	0.602																																					NSCLC(97;826 2151 10470 22540)	uc002qdq.2		NaN																	0					0						c.(187-189)CTC>TTC		membrane bound O-acyltransferase domain							58.0	66.0	63.0					19																	54692090		2203	4300	6503	SO:0001583	missense	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54692090G>A	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.187C>T	19.37:g.54692090G>A	ENSP00000245615:p.Leu63Phe					MBOAT7_uc010erg.2_5'Flank|MBOAT7_uc010yem.1_Missense_Mutation_p.L45F|MBOAT7_uc002qdr.2_Missense_Mutation_p.L63F|MBOAT7_uc002qds.2_Missense_Mutation_p.P32L|MBOAT7_uc010yen.1_Missense_Mutation_p.P32L|MBOAT7_uc002qdt.3_Missense_Mutation_p.L63F|TSEN34_uc010yeo.1_5'Flank|TSEN34_uc002qdu.2_5'Flank|TSEN34_uc002qdv.2_5'Flank	p.L63F	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN			4	453	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		63			Helical; (Potential).		A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	c.187C>T	CCDS12883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.044322|4.044322	0.75732|0.75732	.|.	.|.	ENSG00000125505|ENSG00000125505	ENST00000245615;ENST00000449249;ENST00000391754;ENST00000414665;ENST00000453320|ENST00000431666;ENST00000338624	T;T;T|T;T	0.50548|0.15718	2.09;1.37;0.74|2.4;2.4	4.06|4.06	2.89|2.89	0.33648|0.33648	.|.	0.224693|.	0.34628|.	N|.	0.003819|.	T|T	0.08492|0.08492	0.0211|0.0211	.|.	.|.	.|.	0.36553|0.36553	D|D	0.871968|0.871968	B;P|B	0.40144|0.09022	0.067;0.704|0.002	B;B|B	0.39531|0.13407	0.025;0.302|0.009	T|T	0.17715|0.17715	-1.0360|-1.0360	9|8	0.72032|0.10902	D|T	0.01|0.67	-28.2673|-28.2673	8.8044|8.8044	0.34929|0.34929	0.0:0.0:0.5443:0.4557|0.0:0.0:0.5443:0.4557	.|.	45;63|32	B4DDH8;Q96N66|Q96N66-2	.;MBOA7_HUMAN|.	F|L	63;15;63;63;63|32	ENSP00000245615:L63F;ENSP00000375634:L63F;ENSP00000388250:L63F|ENSP00000410503:P32L;ENSP00000344377:P32L	ENSP00000245615:L63F|ENSP00000344377:P32L	L|P	-|-	1|2	0|0	MBOAT7|MBOAT7	59383902|59383902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	4.516000|4.516000	0.60496|0.60496	2.008000|2.008000	0.58898|0.58898	0.561000|0.561000	0.74099|0.74099	CTC|CCT		0.602	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1		NM_024298		10	158	0	0	0	0.001368	0	10	158		
TTYH1	57348	broad.mit.edu	37	19	54942276	54942276	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:54942276G>A	ENST00000376530.3	+	10	1135		c.e10-1		TTYH1_ENST00000391739.3_Splice_Site|AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000489425.1_Splice_Site|TTYH1_ENST00000376531.3_Splice_Site|TTYH1_ENST00000301194.4_Splice_Site	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1						cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TCGCCCCGCAGAAGCCTCTGC	0.637																																						uc002qfq.2		NaN																	0					0						c.e10-1		tweety 1 isoform 1							73.0	73.0	73.0					19																	54942276		2203	4300	6503	SO:0001630	splice_region_variant	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54942276G>A	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.1033-1G>A	19.37:g.54942276G>A						TTYH1_uc010yey.1_Splice_Site_p.E375_splice|TTYH1_uc002qfr.2_Splice_Site_p.K345_splice|TTYH1_uc002qft.2_Splice_Site_p.K345_splice|TTYH1_uc002qfu.1_Splice_Site_p.K257_splice	p.K345_splice	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	10	1125	+	Ovarian(34;0.19)							B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Splice_Site	SNP	ENST00000376530.3	37	c.1033_splice	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663282	0.47572	.	.	ENSG00000167614	ENST00000301194;ENST00000376530;ENST00000391739;ENST00000376531	.	.	.	3.9	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7848	0.63104	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTYH1	59634088	1.000000	0.71417	0.996000	0.52242	0.545000	0.35147	7.108000	0.77055	2.171000	0.68590	0.561000	0.74099	.		0.637	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			Intron	22	104	0	0	0	0.008361	0	22	104		
LILRB1	10859	broad.mit.edu	37	19	55143036	55143036	+	Silent	SNP	C	C	G	rs200861496	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:55143036C>G	ENST00000396331.1	+	5	513	c.156C>G	c.(154-156)ggC>ggG	p.G52G	LILRB1_ENST00000396332.4_Silent_p.G52G|LILRB1_ENST00000396327.3_Silent_p.G52G|LILRB1_ENST00000324602.7_Silent_p.G52G|LILRB1_ENST00000448689.1_Silent_p.G52G|LILRB1_ENST00000434867.2_Silent_p.G52G|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396321.2_Silent_p.G52G|LILRB1_ENST00000396315.1_Silent_p.G52G|LILRB1_ENST00000427581.2_Silent_p.G88G|LILRB1_ENST00000396317.1_Silent_p.G52G|LILRB1_ENST00000418536.2_Silent_p.G52G	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	52	Ig-like C2-type 1.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GTCAGGGGGGCCAGGAGACCC	0.577										HNSCC(37;0.09)			c|||	2	0.000399361	0.0	0.0	5008	,	,		16167	0.0		0.002	False		,,,				2504	0.0					uc002qgj.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(154-156)GGC>GGG		leukocyte immunoglobulin-like receptor,		C	,,,	5,4401	4.2+/-10.8	0,5,2198	103.0	106.0	105.0		156,156,156,156	-0.3	0.0	19		105	25,8575	13.3+/-46.6	0,25,4275	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LILRB1	NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3	,,,	0,30,6473	GG,GC,CC		0.2907,0.1135,0.2307	,,,	52/653,52/652,52/652,52/651	55143036	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143036C>G	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.156C>G	19.37:g.55143036C>G		HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.G52G|LILRB1_uc002qgk.2_Silent_p.G52G|LILRB1_uc002qgm.2_Silent_p.G52G|LILRB1_uc010erq.2_Silent_p.G52G|LILRB1_uc010err.2_RNA	p.G52G	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	496	+			52			Ig-like C2-type 1.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.156C>G	CCDS42617.1																																																																																				0.577	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4				3	113	0	0	0	0.004672	0	3	113		
KIR3DL1	3811	broad.mit.edu	37	19	55286739	55286739	+	Intron	SNP	G	G	A	rs373043299		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:55286739G>A	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000291633.7_Missense_Mutation_p.E165K|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.E165K|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CAGGGAAGGGGAGGCCCATGA	0.612													.|||	1	0.000199681	0.0008	0.0	5008	,	,		14119	0.0		0.0	False		,,,				2504	0.0					uc002qhb.1		NaN																	0					0						c.(493-495)GAG>AAG		killer cell immunoglobulin-like receptor, two		G	LYS/GLU	3,4107		0,3,2052	81.0	89.0	86.0		493	1.1	0.0	19		86	0,8000		0,0,4000	no	missense	KIR2DL1	NM_014218.2	56	0,3,6052	AA,AG,GG		0.0,0.073,0.0248		165/349	55286739	3,12107	2055	4000	6055	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55286739G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-42250G>A	19.37:g.55286739G>A						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_RNA|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.E165K	p.E165K	NM_014218	NP_055033	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	4	531	+			165			Extracellular (Potential).|Ig-like C2-type 2.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.493G>A		.	.	.	.	.	.	.	.	.	.	G	10.08	1.252878	0.22965	7.3E-4	0.0	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.16196	2.36;2.36	1.1	1.1	0.20463	.	.	.	.	.	T	0.16599	0.0399	M	0.74389	2.26	0.09310	N	1	B;P	0.41080	0.028;0.737	B;B	0.33960	0.047;0.173	T	0.21861	-1.0233	9	0.87932	D	0	.	5.5929	0.17311	0.0:0.0:1.0:0.0	.	165;165	Q6IST4;Q6H2H3	.;.	K	165	ENSP00000336769:E165K;ENSP00000291633:E165K	ENSP00000291633:E165K	E	+	1	0	KIR2DL1	59978551	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.074000	0.11450	0.924000	0.37069	0.184000	0.17185	GAG		0.612	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_013289		23	54	0	0	0	0.00632	0	23	54		
NLRP7	199713	broad.mit.edu	37	19	55452917	55452917	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:55452917C>T	ENST00000590030.1	-	1	203	c.163G>A	c.(163-165)Gca>Aca	p.A55T	NLRP7_ENST00000448121.2_Missense_Mutation_p.A55T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A55T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A55T|NLRP7_ENST00000446217.1_Missense_Mutation_p.A83T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A55T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A55T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	55	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGAATTTCTGCCAGTTTCTTG	0.443																																						uc002qih.3		NaN																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(163-165)GCA>ACA		NACHT, leucine rich repeat and PYD containing 7							118.0	113.0	115.0					19																	55452917		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55452917C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.163G>A	19.37:g.55452917C>T	ENSP00000465520:p.Ala55Thr					NLRP7_uc002qig.3_Missense_Mutation_p.A55T|NLRP7_uc002qii.3_Missense_Mutation_p.A55T|NLRP7_uc010esk.2_Missense_Mutation_p.A55T|NLRP7_uc010esl.2_Missense_Mutation_p.A83T	p.A55T	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	2	239	-			55			DAPIN.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.163G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387585	0.42308	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	1.38	1.38	0.22167	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.64994	0.2649	L	0.51422	1.61	0.09310	N	0.999999	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.71656	0.974;0.974;0.974;0.956	T	0.50381	-0.8835	9	0.72032	D	0.01	.	6.1663	0.20392	0.0:1.0:0.0:0.0	.	83;55;55;55	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	T	55;55;55;83;55	ENSP00000329568:A55T;ENSP00000409137:A55T;ENSP00000339491:A55T;ENSP00000414273:A83T	ENSP00000329568:A55T	A	-	1	0	NLRP7	60144729	0.014000	0.17966	0.145000	0.22337	0.042000	0.13812	1.023000	0.30065	1.057000	0.40506	0.313000	0.20887	GCA		0.443	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1		NM_139176		3	70	0	0	0	0.000602	0	3	70		
NLRP7	199713	broad.mit.edu	37	19	55453052	55453052	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:55453052G>A	ENST00000590030.1	-	1	68	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	NLRP7_ENST00000448121.2_Silent_p.L10L|NLRP7_ENST00000588756.1_Silent_p.L10L|NLRP7_ENST00000340844.2_Silent_p.L10L|NLRP7_ENST00000446217.1_Silent_p.L38L|NLRP7_ENST00000328092.5_Silent_p.L10L|NLRP7_ENST00000592784.1_Silent_p.L10L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	10	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGGTCTGCAGAGTCCACTCT	0.483																																						uc002qih.3		NaN																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(28-30)CTG>TTG		NACHT, leucine rich repeat and PYD containing 7							38.0	39.0	39.0					19																	55453052		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55453052G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.28C>T	19.37:g.55453052G>A						NLRP7_uc002qig.3_Silent_p.L10L|NLRP7_uc002qii.3_Silent_p.L10L|NLRP7_uc010esk.2_Silent_p.L10L|NLRP7_uc010esl.2_Silent_p.L38L	p.L10L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	2	104	-			10			DAPIN.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.28C>T	CCDS33109.1																																																																																				0.483	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1		NM_139176		5	36	0	0	0	0.001984	0	5	36		
SYT5	6861	broad.mit.edu	37	19	55686641	55686641	+	Missense_Mutation	SNP	G	G	A	rs141073446		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:55686641G>A	ENST00000354308.3	-	6	976	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	SYT5_ENST00000537500.1_Missense_Mutation_p.R203C|SYT5_ENST00000590851.1_Missense_Mutation_p.R200C|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000592935.1_5'Flank	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	203	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCGTCATTGCGAGAGAAGCGG	0.677																																						uc002qjm.1		NaN																	0					0						c.(607-609)CGC>TGC		synaptotagmin V		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	44.0	38.0	40.0		607	3.2	1.0	19	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SYT5	NM_003180.2	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	203/387	55686641	2,13004	2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55686641G>A	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.607C>T	19.37:g.55686641G>A	ENSP00000346265:p.Arg203Cys					SYT5_uc002qjp.2_Missense_Mutation_p.R200C|SYT5_uc002qjn.1_Missense_Mutation_p.R203C|SYT5_uc002qjo.1_Missense_Mutation_p.R203C	p.R203C	NM_003180	NP_003171	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	5	1667	-			203			Cytoplasmic (Potential).|C2 1.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.607C>T	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936515	0.92458	2.27E-4	1.16E-4	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.09817	2.94;2.94	4.34	3.19	0.36642	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.057257	0.64402	D	0.000004	T	0.34077	0.0885	M	0.88181	2.935	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.72338	0.977;0.762;0.977	T	0.18713	-1.0328	10	0.87932	D	0	.	9.4485	0.38712	0.0:0.0:0.6169:0.3831	.	200;203;203	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	C	203;203;200	ENSP00000442896:R203C;ENSP00000346265:R203C	ENSP00000346265:R203C	R	-	1	0	SYT5	60378453	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.808000	0.75206	2.362000	0.80069	0.555000	0.69702	CGC		0.677	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1		NM_003180		3	41	0	0	0	0.000602	0	3	41		
NLRP11	204801	broad.mit.edu	37	19	56329303	56329303	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:56329303C>G	ENST00000589093.1	-	2	331	c.238G>C	c.(238-240)Gat>Cat	p.D80H	NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Missense_Mutation_p.D80H|NLRP11_ENST00000360133.3_Missense_Mutation_p.D80H|NLRP11_ENST00000443188.1_Missense_Mutation_p.D80H			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	80	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTACAAAGATCTTCCTTACGC	0.463																																						uc010ygf.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(238-240)GAT>CAT		NLR family, pyrin domain containing 11							122.0	110.0	114.0					19																	56329303		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56329303C>G	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.238G>C	19.37:g.56329303C>G	ENSP00000466285:p.Asp80His					NLRP11_uc002qmb.2_Intron|NLRP11_uc002qmc.2_Intron|NLRP11_uc010ete.1_RNA	p.D80H	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	949	-		Colorectal(82;0.0002)	80			DAPIN.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.238G>C	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840248	0.32513	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.53857	0.6;0.6	2.84	1.78	0.24846	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.67335	0.2882	M	0.71036	2.16	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53180	-0.8475	9	0.87932	D	0	.	7.8822	0.29629	0.0:0.7439:0.2561:0.0	.	80	P59045	NAL11_HUMAN	H	80	ENSP00000409898:D80H;ENSP00000353251:D80H	ENSP00000353251:D80H	D	-	1	0	NLRP11	61021115	0.008000	0.16893	0.026000	0.17262	0.001000	0.01503	0.225000	0.17757	0.760000	0.33108	-0.155000	0.13514	GAT		0.463	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1		NM_145007		8	84	0	0	0	0.004482	0	8	84		
NLRP4	147945	broad.mit.edu	37	19	56382323	56382323	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:56382323G>A	ENST00000301295.6	+	7	2907	c.2485G>A	c.(2485-2487)Gag>Aag	p.E829K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E773K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E754K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	829					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AACTCTCTGCGAGGCCTTGAA	0.498																																						uc002qmd.3		NaN																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2485-2487)GAG>AAG		NLR family, pyrin domain containing 4							117.0	105.0	109.0					19																	56382323		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56382323G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2485G>A	19.37:g.56382323G>A	ENSP00000301295:p.Glu829Lys					NLRP4_uc002qmf.2_Missense_Mutation_p.E754K|NLRP4_uc010etf.2_Missense_Mutation_p.E604K	p.E829K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	7	2907	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	829			LRR 5.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2485G>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	2.465	-0.323184	0.05350	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.53206	0.63;3.22	3.9	1.74	0.24563	.	.	.	.	.	T	0.28928	0.0718	N	0.17631	0.505	0.09310	N	1	B;B;B	0.17268	0.021;0.005;0.011	B;B;B	0.15484	0.013;0.003;0.005	T	0.18147	-1.0346	9	0.31617	T	0.26	.	6.4085	0.21678	0.2325:0.0:0.7675:0.0	.	773;754;829	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	K	829;773	ENSP00000301295:E829K;ENSP00000344787:E773K	ENSP00000301295:E829K	E	+	1	0	NLRP4	61074135	0.001000	0.12720	0.004000	0.12327	0.006000	0.05464	0.374000	0.20501	0.432000	0.26286	-0.143000	0.13931	GAG		0.498	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2		NM_134444		9	86	0	0	0	0.001368	0	9	86		
GALP	85569	broad.mit.edu	37	19	56688513	56688513	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:56688513C>T	ENST00000357330.2	+	2	118	c.36C>T	c.(34-36)ctC>ctT	p.L12L	GALP_ENST00000590002.1_Silent_p.L12L|GALP_ENST00000440823.1_Silent_p.L12L	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	12					behavioral response to starvation (GO:0042595)|defense response to bacterium (GO:0042742)|neuropeptide signaling pathway (GO:0007218)|regulation of appetite (GO:0032098)|response to insulin (GO:0032868)	extracellular region (GO:0005576)				lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TCCTCCTCCTCGTCCTCTTGC	0.622																																						uc002qmo.1		NaN																	0					0						c.(34-36)CTC>CTT		galanin-like peptide isoform 1 precursor							74.0	46.0	56.0					19																	56688513		2203	4300	6503	SO:0001819	synonymous_variant	85569				neuropeptide signaling pathway	extracellular region	hormone activity	g.chr19:56688513C>T	AF188493	CCDS12940.1, CCDS46202.1	19q13.42	2013-02-26	2007-08-24			ENSG00000197487		"""Endogenous ligands"""	24840	protein-coding gene	gene with protein product		611178				10601261	Standard	NM_033106		Approved		uc002qmo.1	Q9UBC7		ENST00000357330.2:c.36C>T	19.37:g.56688513C>T						GALP_uc010eti.2_Silent_p.L12L	p.L12L	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN		GBM - Glioblastoma multiforme(193;0.0507)	2	118	+		Colorectal(82;0.000147)|Ovarian(87;0.243)	12					A1KXL3	Silent	SNP	ENST00000357330.2	37	c.36C>T	CCDS12940.1																																																																																				0.622	GALP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457832.1		NM_033106		5	49	0	0	0	0.001168	0	5	49		
ZNF582	147948	broad.mit.edu	37	19	56895501	56895501	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:56895501C>T	ENST00000301310.4	-	5	1443	c.1285G>A	c.(1285-1287)Ggg>Agg	p.G429R	ZNF582_ENST00000586929.1_Missense_Mutation_p.G429R	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		AAAGCCTTCCCACATTCCTTA	0.393																																					Ovarian(183;1887 2032 4349 30507 51343)	uc002qmz.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(1285-1287)GGG>AGG		zinc finger protein 582							118.0	114.0	115.0					19																	56895501		2203	4300	6503	SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56895501C>T	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1285G>A	19.37:g.56895501C>T	ENSP00000301310:p.Gly429Arg					ZNF582_uc002qmy.2_Missense_Mutation_p.G460R	p.G429R	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	1444	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	429			C2H2-type 10.		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	c.1285G>A	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275628	0.59649	.	.	ENSG00000018869	ENST00000301310	T	0.58506	0.33	4.23	-3.56	0.04626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36303	N	0.002662	T	0.62901	0.2466	M	0.88570	2.965	0.27436	N	0.953877	P;P	0.42993	0.797;0.797	P;P	0.45946	0.498;0.498	T	0.64558	-0.6379	10	0.59425	D	0.04	.	10.7709	0.46321	0.0:0.4244:0.0:0.5756	.	429;460	Q96NG8;B4DQZ9	ZN582_HUMAN;.	R	429	ENSP00000301310:G429R	ENSP00000301310:G429R	G	-	1	0	ZNF582	61587313	0.000000	0.05858	0.341000	0.25589	0.859000	0.49053	-0.297000	0.08276	-0.655000	0.05387	0.561000	0.74099	GGG		0.393	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2		NM_144690		5	49	0	0	0	0.000602	0	5	49		
USP29	57663	broad.mit.edu	37	19	57640824	57640824	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:57640824G>C	ENST00000254181.4	+	4	1235	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	USP29_ENST00000598197.1_Missense_Mutation_p.E261Q	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	261					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTGGAACCAGAGCACAGCCA	0.478																																						uc002qny.2		NaN																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(781-783)GAG>CAG		ubiquitin specific peptidase 29							86.0	87.0	86.0					19																	57640824		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640824G>C		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.781G>C	19.37:g.57640824G>C	ENSP00000254181:p.Glu261Gln						p.E261Q	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1137	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	261						Missense_Mutation	SNP	ENST00000254181.4	37	c.781G>C	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	1.375	-0.584908	0.03827	.	.	ENSG00000131864	ENST00000254181	T	0.47869	0.83	2.27	-0.335	0.12662	.	.	.	.	.	T	0.27349	0.0671	N	0.22421	0.69	0.09310	N	1	B	0.22346	0.068	B	0.22601	0.04	T	0.20806	-1.0264	9	0.22706	T	0.39	0.0545	4.4302	0.11524	0.6111:0.0:0.3889:0.0	.	261	Q9HBJ7	UBP29_HUMAN	Q	261	ENSP00000254181:E261Q	ENSP00000254181:E261Q	E	+	1	0	USP29	62332636	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.394000	0.20834	-0.067000	0.12976	-0.229000	0.12294	GAG		0.478	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1				4	74	0	0	0	0.000602	0	4	74		
USP29	57663	broad.mit.edu	37	19	57640872	57640872	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:57640872G>A	ENST00000254181.4	+	4	1283	c.829G>A	c.(829-831)Gac>Aac	p.D277N	USP29_ENST00000598197.1_Missense_Mutation_p.D277N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	277					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTGCCTCTTGACTCTCATTC	0.473																																						uc002qny.2		NaN																	0		p.D277E(1)		lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(829-831)GAC>AAC		ubiquitin specific peptidase 29							80.0	79.0	79.0					19																	57640872		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640872G>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.829G>A	19.37:g.57640872G>A	ENSP00000254181:p.Asp277Asn						p.D277N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1185	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	277						Missense_Mutation	SNP	ENST00000254181.4	37	c.829G>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	8.921	0.961119	0.18583	.	.	ENSG00000131864	ENST00000254181	T	0.48522	0.81	2.68	1.58	0.23477	.	0.810321	0.10056	U	0.721568	T	0.28764	0.0713	L	0.33485	1.01	0.09310	N	1	P	0.34934	0.476	B	0.26517	0.07	T	0.13098	-1.0522	10	0.31617	T	0.26	-4.1205	4.2083	0.10498	0.2375:0.0:0.7625:0.0	.	277	Q9HBJ7	UBP29_HUMAN	N	277	ENSP00000254181:D277N	ENSP00000254181:D277N	D	+	1	0	USP29	62332684	0.000000	0.05858	0.006000	0.13384	0.009000	0.06853	-0.031000	0.12287	0.565000	0.29255	0.585000	0.79938	GAC		0.473	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1				5	30	0	0	0	0.000602	0	5	30		
USP29	57663	broad.mit.edu	37	19	57641088	57641088	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:57641088G>A	ENST00000254181.4	+	4	1499	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	USP29_ENST00000598197.1_Missense_Mutation_p.E349K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	349	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATCAAGAGAGAATTACTTGG	0.378																																						uc002qny.2		NaN																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(1045-1047)GAA>AAA		ubiquitin specific peptidase 29							66.0	69.0	68.0					19																	57641088		2202	4300	6502	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641088G>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1045G>A	19.37:g.57641088G>A	ENSP00000254181:p.Glu349Lys						p.E349K	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1401	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	349						Missense_Mutation	SNP	ENST00000254181.4	37	c.1045G>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	3.893	-0.023547	0.07634	.	.	ENSG00000131864	ENST00000254181	T	0.30448	1.53	2.54	0.375	0.16188	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.476580	0.16832	U	0.197702	T	0.11452	0.0279	N	0.11698	0.16	0.09310	N	1	B	0.13145	0.007	B	0.16289	0.015	T	0.30966	-0.9960	10	0.07175	T	0.84	-5.2505	3.799	0.08751	0.1496:0.256:0.5945:0.0	.	349	Q9HBJ7	UBP29_HUMAN	K	349	ENSP00000254181:E349K	ENSP00000254181:E349K	E	+	1	0	USP29	62332900	0.996000	0.38824	0.000000	0.03702	0.003000	0.03518	2.600000	0.46240	0.154000	0.19237	-0.127000	0.14921	GAA		0.378	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1				5	69	0	0	0	0.001168	0	5	69		
USP29	57663	broad.mit.edu	37	19	57641253	57641253	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:57641253G>A	ENST00000254181.4	+	4	1664	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	USP29_ENST00000598197.1_Missense_Mutation_p.E404K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	404	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGTGGGGATGAAAATTCATC	0.393																																						uc002qny.2		NaN																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(1210-1212)GAA>AAA		ubiquitin specific peptidase 29							105.0	93.0	97.0					19																	57641253		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641253G>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1210G>A	19.37:g.57641253G>A	ENSP00000254181:p.Glu404Lys						p.E404K	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1566	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	404						Missense_Mutation	SNP	ENST00000254181.4	37	c.1210G>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	6.054	0.378249	0.11466	.	.	ENSG00000131864	ENST00000254181	T	0.53640	0.61	2.59	-0.789	0.10935	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.167420	0.06654	N	0.763299	T	0.37489	0.1005	L	0.39566	1.225	0.09310	N	1	P	0.34864	0.473	B	0.35182	0.197	T	0.35847	-0.9772	10	0.52906	T	0.07	-2.6142	6.237	0.20768	0.4224:0.0:0.5776:0.0	.	404	Q9HBJ7	UBP29_HUMAN	K	404	ENSP00000254181:E404K	ENSP00000254181:E404K	E	+	1	0	USP29	62333065	0.051000	0.20477	0.000000	0.03702	0.001000	0.01503	1.771000	0.38542	-0.121000	0.11787	-0.229000	0.12294	GAA		0.393	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1				6	63	0	0	0	0.001168	0	6	63		
ZNF264	9422	broad.mit.edu	37	19	57723168	57723168	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:57723168G>C	ENST00000263095.6	+	4	1117	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.E235Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	235					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(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TGAATGCACAGAATGTGGGAA	0.428																																						uc002qob.2		NaN																	0				ovary(2)	2						c.(703-705)GAA>CAA		zinc finger protein 264							95.0	95.0	95.0					19																	57723168		2203	4300	6503	SO:0001583	missense	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57723168G>C	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.703G>C	19.37:g.57723168G>C	ENSP00000263095:p.Glu235Gln						p.E235Q	NM_003417	NP_003408	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	1116	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	235			C2H2-type 2.		A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.703G>C	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305281	0.40795	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.18502	2.21;2.21	2.35	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19327	0.0464	N	0.12422	0.21	0.09310	N	1	D	0.67145	0.996	D	0.78314	0.991	T	0.15578	-1.0432	9	0.31617	T	0.26	.	7.2502	0.26146	0.1425:0.0:0.8575:0.0	.	235	O43296	ZN264_HUMAN	Q	235	ENSP00000263095:E235Q;ENSP00000440376:E235Q	ENSP00000263095:E235Q	E	+	1	0	ZNF264	62414980	0.000000	0.05858	0.989000	0.46669	0.995000	0.86356	-0.219000	0.09228	1.644000	0.50603	0.491000	0.48974	GAA		0.428	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1				9	77	0	0	0	0.008291	0	9	77		
ZNF530	348327	broad.mit.edu	37	19	58117277	58117277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:58117277G>A	ENST00000332854.6	+	3	604	c.384G>A	c.(382-384)tgG>tgA	p.W128*	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGATTTCTGGATGAGTTCAA	0.458																																						uc002qpk.2		NaN																	0					0						c.(382-384)TGG>TGA		zinc finger protein 530							56.0	60.0	59.0					19																	58117277		2203	4300	6503	SO:0001587	stop_gained	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58117277G>A	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.384G>A	19.37:g.58117277G>A	ENSP00000332861:p.Trp128*					ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	p.W128*	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	604	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	128					O43340|Q9P220	Nonsense_Mutation	SNP	ENST00000332854.6	37	c.384G>A	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499484	0.44455	.	.	ENSG00000183647	ENST00000332854	.	.	.	1.61	-2.97	0.05530	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	7.8553	0.29478	0.0:0.0:0.7123:0.2877	.	.	.	.	X	128	.	ENSP00000332861:W128X	W	+	3	0	ZNF530	62809089	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-1.924000	0.01565	-0.737000	0.04824	0.514000	0.50259	TGG		0.458	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1		NM_020880		14	35	0	0	0	0.003163	0	14	35		
ZNF606	80095	broad.mit.edu	37	19	58490857	58490857	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:58490857C>G	ENST00000341164.4	-	7	1811	c.1191G>C	c.(1189-1191)gaG>gaC	p.E397D	ZNF606_ENST00000536132.1_Missense_Mutation_p.E307D	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CATAGGGTTTCTCTGCAGTGT	0.378																																						uc002qqw.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1189-1191)GAG>GAC		zinc finger protein 606							98.0	89.0	92.0					19																	58490857		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490857C>G	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1191G>C	19.37:g.58490857C>G	ENSP00000343617:p.Glu397Asp					ZNF606_uc010yhp.1_Missense_Mutation_p.E307D	p.E397D	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1809	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	397					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1191G>C	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	C	9.760	1.169795	0.21621	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.19806	2.12;2.12;2.12	4.6	1.21	0.21127	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.303615	0.23872	N	0.043734	T	0.22166	0.0534	M	0.80746	2.51	0.29356	N	0.865013	B	0.06786	0.001	B	0.08055	0.003	T	0.16748	-1.0392	10	0.54805	T	0.06	.	4.5002	0.11860	0.1566:0.5899:0.0:0.2535	.	397	Q8WXB4	ZN606_HUMAN	D	397;307;397	ENSP00000343617:E397D;ENSP00000445624:E307D;ENSP00000446972:E397D	ENSP00000343617:E397D	E	-	3	2	ZNF606	63182669	0.920000	0.31207	0.999000	0.59377	0.990000	0.78478	0.151000	0.16283	0.268000	0.21939	0.650000	0.86243	GAG		0.378	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1		NM_025027		5	55	0	0	0	0.001984	0	5	55		
TRIM28	10155	broad.mit.edu	37	19	59059693	59059693	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:59059693G>A	ENST00000253024.5	+	8	1423	c.1134G>A	c.(1132-1134)atG>atA	p.M378I	TRIM28_ENST00000341753.6_Missense_Mutation_p.M296I	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	378					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCCTCAAGATGATTGTGGATC	0.532																																						uc002qtg.1		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(1132-1134)ATG>ATA		tripartite motif-containing 28 protein							71.0	71.0	71.0					19																	59059693		2203	4300	6503	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59059693G>A		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1134G>A	19.37:g.59059693G>A	ENSP00000253024:p.Met378Ile					TRIM28_uc010eut.1_Missense_Mutation_p.M296I|TRIM28_uc002qth.1_Missense_Mutation_p.M1I	p.M378I	NM_005762	NP_005753	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	8	1423	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	378					O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.1134G>A	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077098	0.36662	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.67345	-0.05;-0.26	5.64	5.64	0.86602	B-box, C-terminal (1);	0.176049	0.51477	D	0.000088	T	0.54565	0.1866	L	0.29908	0.895	0.35674	D	0.813505	B;B;B	0.33044	0.395;0.275;0.275	B;B;B	0.33042	0.157;0.051;0.075	T	0.63616	-0.6597	10	0.42905	T	0.14	-47.9267	12.5256	0.56085	0.0:0.0:0.8334:0.1666	.	296;378;378	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	I	378;296	ENSP00000253024:M378I;ENSP00000342232:M296I	ENSP00000253024:M378I	M	+	3	0	TRIM28	63751505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.366000	0.52343	2.837000	0.97791	0.655000	0.94253	ATG		0.532	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1		NM_005762		8	102	0	0	0	0.006214	0	8	102		
TAF1B	9014	broad.mit.edu	37	2	10045054	10045054	+	Missense_Mutation	SNP	C	C	T	rs374536272		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:10045054C>T	ENST00000263663.5	+	9	1062	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	TAF1B_ENST00000396242.3_Missense_Mutation_p.R37C	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	292	C-terminal cyclin fold.		R -> H (in dbSNP:rs16867223).		gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGATTTGCCTCGTTTTCCAGA	0.378																																						uc002qzz.2		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(874-876)CGT>TGT		TBP-associated factor 1B		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	95.0	100.0		874	5.7	1.0	2		100	0,8600		0,0,4300	no	missense	TAF1B	NM_005680.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	292/589	10045054	1,13005	2203	4300	6503	SO:0001583	missense	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10045054C>T	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.874C>T	2.37:g.10045054C>T	ENSP00000263663:p.Arg292Cys					TAF1B_uc010exc.2_Missense_Mutation_p.R292C|TAF1B_uc002qzy.3_Missense_Mutation_p.R292C|TAF1B_uc010yja.1_Missense_Mutation_p.R37C|TAF1B_uc010exd.2_Missense_Mutation_p.R37C	p.R292C	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN			9	974	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		292					B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	c.874C>T	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674569	0.47781	2.27E-4	0.0	ENSG00000115750	ENST00000263663;ENST00000396242	T;T	0.08634	3.07;3.07	5.67	5.67	0.87782	.	0.281428	0.42172	D	0.000746	T	0.28234	0.0697	M	0.73962	2.25	0.49389	D	0.999781	P;D	0.89917	0.793;1.0	B;D	0.81914	0.132;0.995	T	0.00250	-1.1878	9	.	.	.	-18.1011	13.9937	0.64382	0.0:0.9277:0.0:0.0723	.	292;292	Q53T94;Q53T94-2	TAF1B_HUMAN;.	C	292;37	ENSP00000263663:R292C;ENSP00000379542:R37C	.	R	+	1	0	TAF1B	9962505	0.989000	0.36119	0.990000	0.47175	0.931000	0.56810	2.350000	0.44063	2.673000	0.90976	0.467000	0.42956	CGT		0.378	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2		NM_005680		6	53	0	0	0	0.001168	0	6	53		
MYCN	4613	broad.mit.edu	37	2	16085691	16085691	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:16085691C>T	ENST00000281043.3	+	3	1164	c.867C>T	c.(865-867)tcC>tcT	p.S289S		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	289					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GTTCCTCCTCCAACACCAAGG	0.532			A		neuroblastoma																																	uc002rci.2		NaN		Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		0				central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(865-867)TCC>TCT		v-myc myelocytomatosis viral related oncogene,							121.0	95.0	104.0					2																	16085691		2203	4300	6503	SO:0001819	synonymous_variant	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16085691C>T	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.867C>T	2.37:g.16085691C>T						MYCN_uc010yjr.1_Silent_p.S281S	p.S289S	NM_005378	NP_005369	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1167	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		289					Q53XS5|Q6LDT9	Silent	SNP	ENST00000281043.3	37	c.867C>T	CCDS1687.1																																																																																				0.532	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2		NM_005378		12	73	0	0	0	0.001368	0	12	73		
NT5C1B	93034	broad.mit.edu	37	2	18745124	18745124	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:18745124C>T	ENST00000359846.2	-	10	1848	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	NT5C1B_ENST00000304081.4_Missense_Mutation_p.E531K|NT5C1B_ENST00000600945.1_Missense_Mutation_p.E591K|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E591K	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	591					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGTGCCCCTTCAATGTGGAAC	0.468																																						uc002rcz.2		NaN																	0				skin(2)|ovary(1)	3						c.(1771-1773)GAA>AAA		5' nucleotidase, cytosolic IB isoform 1							81.0	81.0	81.0					2																	18745124		2203	4300	6503	SO:0001583	missense	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18745124C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1771G>A	2.37:g.18745124C>T	ENSP00000352904:p.Glu591Lys					NT5C1B_uc002rcy.2_Missense_Mutation_p.E591K|NT5C1B_uc010exr.2_Intron|NT5C1B_uc010yju.1_Missense_Mutation_p.E531K|NT5C1B_uc002rda.2_Missense_Mutation_p.E531K|NT5C1B_uc010yjv.1_Missense_Mutation_p.E608K|NT5C1B_uc010yjw.1_Missense_Mutation_p.E574K|NT5C1B_uc010exs.2_Missense_Mutation_p.E593K	p.E591K	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			10	1875	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	591					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.1771G>A	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.736831	0.69304	.	.	ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000304081;ENST00000359846	.	.	.	6.16	1.77	0.24775	.	0.139807	0.64402	D	0.000006	T	0.66086	0.2754	M	0.70595	2.14	0.53688	D	0.999972	B;B;B;B;B;B;D	0.54047	0.368;0.368;0.368;0.368;0.317;0.368;0.964	B;B;B;B;B;B;P	0.54100	0.297;0.297;0.297;0.217;0.196;0.297;0.742	T	0.69139	-0.5224	9	0.54805	T	0.06	-15.809	13.0903	0.59164	0.0:0.6254:0.311:0.0636	.	574;608;531;574;531;591;591	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;5NT1B_HUMAN;.	K	591;531;591	.	ENSP00000305979:E531K	E	-	1	0	NT5C1B-RDH14;NT5C1B	18608605	0.996000	0.38824	0.997000	0.53966	0.937000	0.57800	3.277000	0.51654	0.448000	0.26722	-0.182000	0.12963	GAA		0.468	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1				7	44	0	0	0	0.001984	0	7	44		
OTOF	9381	broad.mit.edu	37	2	26700125	26700125	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:26700125C>T	ENST00000272371.2	-	21	2564	c.2438G>A	c.(2437-2439)cGg>cAg	p.R813Q	OTOF_ENST00000338581.6_Missense_Mutation_p.R66Q|OTOF_ENST00000402415.3_Missense_Mutation_p.R123Q|OTOF_ENST00000339598.3_Missense_Mutation_p.R66Q|OTOF_ENST00000403946.3_Missense_Mutation_p.R813Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	813					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGGGCCCGCAGCATCCT	0.652																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(2437-2439)CGG>CAG		otoferlin isoform a							23.0	25.0	24.0					2																	26700125		2182	4288	6470	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26700125C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2438G>A	2.37:g.26700125C>T	ENSP00000272371:p.Arg813Gln					OTOF_uc002rhh.2_Missense_Mutation_p.R66Q|OTOF_uc002rhi.2_Missense_Mutation_p.R123Q|OTOF_uc002rhj.2_Missense_Mutation_p.R66Q	p.R813Q	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			21	2565	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		813			Cytoplasmic (Potential).|Potential.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.2438G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156861	0.57259	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.81247	-1.21;-1.21;-1.18;-1.47;-1.47	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	L	0.54908	1.71	0.49582	D	0.999802	P;P;D;P	0.61697	0.76;0.932;0.99;0.932	B;P;P;B	0.48304	0.098;0.559;0.573;0.435	T	0.80761	-0.1238	10	0.35671	T	0.21	-26.581	16.4299	0.83839	0.0:1.0:0.0:0.0	.	813;66;123;66	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	Q	66;66;123;813;813	ENSP00000345137:R66Q;ENSP00000344521:R66Q;ENSP00000383906:R123Q;ENSP00000272371:R813Q;ENSP00000385255:R813Q	ENSP00000272371:R813Q	R	-	2	0	OTOF	26553629	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	5.635000	0.67841	2.210000	0.71456	0.511000	0.50034	CGG		0.652	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3				5	29	0	0	0	0.000602	0	5	29		
EMILIN1	11117	broad.mit.edu	37	2	27308605	27308605	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:27308605C>T	ENST00000380320.4	+	8	3272	c.2773C>T	c.(2773-2775)Cgg>Tgg	p.R925W	KHK_ENST00000260599.6_5'Flank|KHK_ENST00000260598.5_5'Flank	NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	925	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACTGGGCACCGGCACGAGAA	0.667																																						uc002rii.3		NaN																	0				pancreas(1)	1						c.(2773-2775)CGG>TGG		elastin microfibril interfacer 1 precursor							37.0	39.0	39.0					2																	27308605		2198	4281	6479	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27308605C>T	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.2773C>T	2.37:g.27308605C>T	ENSP00000369677:p.Arg925Trp					EMILIN1_uc002rik.3_Missense_Mutation_p.R160W|KHK_uc002ril.2_5'Flank|KHK_uc002rim.2_5'Flank|KHK_uc002rin.2_5'Flank|KHK_uc002rio.2_5'Flank	p.R925W	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			8	3201	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		925			C1q.		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.2773C>T	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729761	0.89390	.	.	ENSG00000138080	ENST00000380320;ENST00000544143	T	0.04234	3.67	5.18	4.28	0.50868	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.079450	0.49305	D	0.000145	T	0.22044	0.0531	M	0.83603	2.65	0.38432	D	0.946464	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.03374	-1.1043	10	0.59425	D	0.04	-26.0079	12.6583	0.56799	0.1667:0.8333:0.0:0.0	.	256;925	Q96IH6;Q9Y6C2	.;EMIL1_HUMAN	W	925;256	ENSP00000369677:R925W	ENSP00000369677:R925W	R	+	1	2	EMILIN1	27162109	0.986000	0.35501	1.000000	0.80357	0.965000	0.64279	1.911000	0.39937	1.134000	0.42165	0.462000	0.41574	CGG		0.667	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1		NM_007046		14	124	0	0	0	0.003163	0	14	124		
GTF3C2	2976	broad.mit.edu	37	2	27550106	27550106	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:27550106G>T	ENST00000359541.2	-	18	2884	c.2455C>A	c.(2455-2457)Cag>Aag	p.Q819K	GTF3C2_ENST00000264720.3_Missense_Mutation_p.Q819K|MPV17_ENST00000357186.6_5'Flank			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	819					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCCTCCTGCATGCGCAGC	0.512																																						uc002rjv.1		NaN																	0				ovary(1)|skin(1)	2						c.(2455-2457)CAG>AAG		general transcription factor IIIC, polypeptide							76.0	64.0	68.0					2																	27550106		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27550106G>T	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2455C>A	2.37:g.27550106G>T	ENSP00000352536:p.Gln819Lys					MPV17_uc002rjt.2_5'Flank|GTF3C2_uc010eyy.1_Missense_Mutation_p.Q274K|GTF3C2_uc002rju.1_Missense_Mutation_p.Q830K|GTF3C2_uc002rjw.1_Missense_Mutation_p.Q819K	p.Q819K	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			19	2818	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		819					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.2455C>A	CCDS1749.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	g|g|g	13.43|13.43|13.43	2.234034|2.234034|2.234034	0.39498|0.39498|0.39498	.|.|.	.|.|.	ENSG00000115207|ENSG00000115207|ENSG00000115207	ENST00000457098|ENST00000431028;ENST00000454704;ENST00000415683|ENST00000359541;ENST00000264720	.|.|T;T	.|.|0.71341	.|.|-0.56;-0.56	4.95|4.95|4.95	4.06|4.06|4.06	0.47325|0.47325|0.47325	.|.|WD40 repeat-like-containing domain (1);	.|.|0.323931	.|.|0.32918	.|.|N	.|.|0.005499	T|.|T	0.52629|.|0.52629	0.1746|.|0.1746	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.36570|0.36570|0.36570	D|D|D	0.872945|0.872945|0.872945	.|.|P	.|.|0.43231	.|.|0.801	.|.|B	.|.|0.40940	.|.|0.344	T|.|T	0.55366|.|0.55366	-0.8152|.|-0.8152	5|.|10	.|.|0.13470	.|.|T	.|.|0.59	-7.4388|-7.4388|-7.4388	11.0609|11.0609|11.0609	0.47946|0.47946|0.47946	0.0:0.1874:0.8126:0.0|0.0:0.1874:0.8126:0.0|0.0:0.1874:0.8126:0.0	.|.|.	.|.|819	.|.|Q8WUA4	.|.|TF3C2_HUMAN	E|X|K	112|33;327;241|819	.|.|ENSP00000352536:Q819K;ENSP00000264720:Q819K	.|.|ENSP00000264720:Q819K	A|C|Q	-|-|-	2|3|1	0|2|0	GTF3C2|GTF3C2|GTF3C2	27403610|27403610|27403610	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	3.901000|3.901000|3.901000	0.56303|0.56303|0.56303	1.285000|1.285000|1.285000	0.44548|0.44548|0.44548	0.651000|0.651000|0.651000	0.88453|0.88453|0.88453	GCA|TGC|CAG		0.512	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2				6	90	1	0	0.00621372	0.006214	0.00633594	6	90		
KRTCAP3	200634	broad.mit.edu	37	2	27666827	27666827	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:27666827G>A	ENST00000543753.1	+	6	674	c.627G>A	c.(625-627)atG>atA	p.M209I	KRTCAP3_ENST00000407293.1_Missense_Mutation_p.M191I|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.M209I	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	209						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					TAGAGGAAATGACAGAGCTTG	0.423																																						uc002rks.2		NaN																	0					0						c.(625-627)ATG>ATA		keratinocyte associated protein 3							82.0	81.0	81.0					2																	27666827		2203	4300	6503	SO:0001583	missense	200634					integral to membrane		g.chr2:27666827G>A	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.627G>A	2.37:g.27666827G>A	ENSP00000442400:p.Met209Ile					KRTCAP3_uc010ylr.1_Missense_Mutation_p.M209I|KRTCAP3_uc002rkt.2_Missense_Mutation_p.M191I	p.M209I	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN			6	644	+	Acute lymphoblastic leukemia(172;0.155)		209					B7ZL49|Q6UW42|Q8IWS5	Missense_Mutation	SNP	ENST00000543753.1	37	c.627G>A	CCDS1754.1	.	.	.	.	.	.	.	.	.	.	G	3.147	-0.175124	0.06421	.	.	ENSG00000157992	ENST00000543753;ENST00000288873;ENST00000407293;ENST00000452499	T;T;T	0.41758	0.99;0.99;0.99	5.82	4.76	0.60689	.	0.358172	0.24209	N	0.040560	T	0.22742	0.0549	N	0.08118	0	0.22226	N	0.99928	B	0.09022	0.002	B	0.09377	0.004	T	0.08597	-1.0714	10	0.37606	T	0.19	-18.2025	10.6601	0.45698	0.1002:0.0:0.8998:0.0	.	209	Q53RY4	KCP3_HUMAN	I	209;209;191;31	ENSP00000442400:M209I;ENSP00000288873:M209I;ENSP00000384689:M191I	ENSP00000288873:M209I	M	+	3	0	KRTCAP3	27520331	0.996000	0.38824	1.000000	0.80357	0.033000	0.12548	1.215000	0.32431	2.758000	0.94735	0.555000	0.69702	ATG		0.423	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1		NM_173853		5	45	0	0	0	0.001984	0	5	45		
XDH	7498	broad.mit.edu	37	2	31562480	31562480	+	Missense_Mutation	SNP	C	C	T	rs202023189		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:31562480C>T	ENST00000379416.3	-	34	3697	c.3649G>A	c.(3649-3651)Gag>Aag	p.E1217K		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1217					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AGGCTCCCCTCGGGGGAATAG	0.612																																					Colon(66;682 1445 30109 40147)	uc002rnv.1		NaN																	0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(3649-3651)GAG>AAG		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						82.0	82.0	82.0					2																	31562480		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31562480C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3649G>A	2.37:g.31562480C>T	ENSP00000368727:p.Glu1217Lys						p.E1217K	NM_000379	NP_000370	P47989	XDH_HUMAN			34	3728	-	Acute lymphoblastic leukemia(172;0.155)		1217					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3649G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640063	0.47153	.	.	ENSG00000158125	ENST00000379416	T	0.42900	0.96	5.91	5.03	0.67393	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.289069	0.42420	D	0.000711	T	0.29588	0.0738	N	0.17379	0.485	0.44523	D	0.997473	B	0.26081	0.141	B	0.20767	0.031	T	0.03524	-1.1028	10	0.33141	T	0.24	.	16.8837	0.86070	0.0:0.8717:0.1283:0.0	.	1217	P47989	XDH_HUMAN	K	1217	ENSP00000368727:E1217K	ENSP00000368727:E1217K	E	-	1	0	XDH	31415984	0.984000	0.35163	0.869000	0.34112	0.605000	0.37080	2.566000	0.45948	1.489000	0.48450	0.655000	0.94253	GAG		0.612	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1		NM_000379		6	58	0	0	0	0.001984	0	6	58		
XDH	7498	broad.mit.edu	37	2	31598300	31598300	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:31598300G>A	ENST00000379416.3	-	15	1596	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	516				FFF -> LLL (in Ref. 3; AAA75287). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AGAACTTGAAGAAGAAGCTGA	0.597																																					Colon(66;682 1445 30109 40147)	uc002rnv.1		NaN																	0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(1546-1548)TTC>TTT		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						99.0	98.0	98.0					2																	31598300		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31598300G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1548C>T	2.37:g.31598300G>A							p.F516F	NM_000379	NP_000370	P47989	XDH_HUMAN			15	1627	-	Acute lymphoblastic leukemia(172;0.155)		516	FFF -> LLL (in Ref. 3; AAA75287).				Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.1548C>T	CCDS1775.1																																																																																				0.597	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1		NM_000379		12	108	0	0	0	0.00245	0	12	108		
BIRC6	57448	broad.mit.edu	37	2	32640519	32640519	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:32640519G>A	ENST00000421745.2	+	10	2294	c.2160G>A	c.(2158-2160)ttG>ttA	p.L720L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	720					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTCAGTGCTTGAGGCTGCCAA	0.483																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(2158-2160)TTG>TTA		baculoviral IAP repeat-containing 6							57.0	57.0	57.0					2																	32640519		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32640519G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2160G>A	2.37:g.32640519G>A							p.L720L	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			10	2294	+	Acute lymphoblastic leukemia(172;0.155)		720					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.2160G>A	CCDS33175.2																																																																																				0.483	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		7	20	0	0	0	0.00308	0	7	20		
CRIM1	51232	broad.mit.edu	37	2	36669853	36669853	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:36669853G>T	ENST00000280527.2	+	4	1211	c.844G>T	c.(844-846)Gat>Tat	p.D282Y		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	282					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				ACTAACTGCAGATGGTTGCTG	0.468																																						uc002rpd.2		NaN																	0				ovary(2)|skin(1)	3						c.(844-846)GAT>TAT		cysteine-rich motor neuron 1 precursor							192.0	164.0	174.0					2																	36669853		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36669853G>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.844G>T	2.37:g.36669853G>T	ENSP00000280527:p.Asp282Tyr						p.D282Y	NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN			4	883	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	282			Extracellular (Potential).		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.844G>T	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717726	0.48622	.	.	ENSG00000150938	ENST00000280527;ENST00000426856	T	0.05081	3.5	5.24	5.24	0.73138	.	0.185422	0.45126	D	0.000400	T	0.08447	0.0210	L	0.44542	1.39	0.80722	D	1	P	0.41265	0.744	B	0.36666	0.23	T	0.07790	-1.0754	10	0.66056	D	0.02	-16.4355	18.1814	0.89779	0.0:0.0:1.0:0.0	.	282	Q9NZV1	CRIM1_HUMAN	Y	282;174	ENSP00000280527:D282Y	ENSP00000280527:D282Y	D	+	1	0	CRIM1	36523357	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	8.227000	0.89787	2.622000	0.88805	0.555000	0.69702	GAT		0.468	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2		NM_016441		21	181	1	0	6.12954e-19	0.004656	6.61439e-19	21	181		
HEATR5B	54497	broad.mit.edu	37	2	37280645	37280645	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:37280645C>G	ENST00000233099.5	-	17	2600	c.2505G>C	c.(2503-2505)aaG>aaC	p.K835N	HEATR5B_ENST00000354531.2_Splice_Site_p.K835N	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	835						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAGTAAATACCTTTAGTGCAC	0.308																																						uc002rpp.1		NaN																	0				ovary(5)|skin(2)|breast(1)	8						c.(2503-2505)AAG>AAC		HEAT repeat containing 5B							41.0	42.0	41.0					2																	37280645		2203	4300	6503	SO:0001630	splice_region_variant	54497						binding	g.chr2:37280645C>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2505+1G>C	2.37:g.37280645C>G							p.K835N	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			17	2601	-		all_hematologic(82;0.21)	835					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2505G>C	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854516	0.91355	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.12255	2.7;2.7	5.85	5.85	0.93711	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.45848	-0.9233	9	.	.	.	-18.2191	20.1736	0.98170	0.0:1.0:0.0:0.0	.	835	Q9P2D3	HTR5B_HUMAN	N	835	ENSP00000233099:K835N;ENSP00000346531:K835N	.	K	-	3	2	HEATR5B	37134149	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.771000	0.85420	2.767000	0.95098	0.557000	0.71058	AAG		0.308	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1		NM_019024	Missense_Mutation	7	44	0	0	0	0.00308	0	7	44		
GALM	130589	broad.mit.edu	37	2	38893390	38893390	+	Missense_Mutation	SNP	G	G	C	rs539849334		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:38893390G>C	ENST00000272252.5	+	1	339	c.87G>C	c.(85-87)ttG>ttC	p.L29F	AC074366.3_ENST00000446277.1_RNA|GALM_ENST00000410063.1_Missense_Mutation_p.L29F	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	29					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CAGACCTCTTGAGAGTGGACA	0.602																																						uc002rqy.2		NaN																	0					0						c.(85-87)TTG>TTC		galactose mutarotase							88.0	76.0	80.0					2																	38893390		2203	4300	6503	SO:0001583	missense	130589				hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	g.chr2:38893390G>C		CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.87G>C	2.37:g.38893390G>C	ENSP00000272252:p.Leu29Phe						p.L29F	NM_138801	NP_620156	Q96C23	GALM_HUMAN			1	339	+		all_hematologic(82;0.248)	29					Q53RY1|Q8NIA2|V9HWA8	Missense_Mutation	SNP	ENST00000272252.5	37	c.87G>C	CCDS1797.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655468	0.47467	.	.	ENSG00000143891	ENST00000272252;ENST00000410063	T	0.47177	0.85	5.13	1.2	0.21068	Glycoside hydrolase-type carbohydrate-binding, subgroup (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.068641	0.56097	D	0.000029	T	0.34366	0.0895	N	0.20357	0.565	0.09310	N	1	D	0.58268	0.982	P	0.49561	0.615	T	0.26258	-1.0108	10	0.25106	T	0.35	-16.1352	8.4793	0.33032	0.0725:0.5803:0.2358:0.1114	.	29	Q96C23	GALM_HUMAN	F	29	ENSP00000272252:L29F	ENSP00000272252:L29F	L	+	3	2	GALM	38746894	0.104000	0.21937	0.018000	0.16275	0.705000	0.40729	0.127000	0.15790	0.032000	0.15435	-0.211000	0.12701	TTG		0.602	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2		NM_138801		9	81	0	0	0	0.008291	0	9	81		
ZFP36L2	678	broad.mit.edu	37	2	43452198	43452198	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:43452198C>G	ENST00000282388.3	-	2	1038	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	249					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGCCGCGGCTCCCGCGGGAAG	0.751																																						uc002rsv.3		NaN																	0					0						c.(745-747)GAG>CAG		zinc finger protein 36, C3H type-like 2							9.0	16.0	14.0					2																	43452198		2120	4200	6320	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452198C>G	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.745G>C	2.37:g.43452198C>G	ENSP00000282388:p.Glu249Gln					LOC100129726_uc010ynx.1_5'Flank	p.E249Q	NM_006887	NP_008818	P47974	TISD_HUMAN			2	1036	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	249					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.745G>C	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546096	0.27652	.	.	ENSG00000152518	ENST00000282388	T	0.47869	0.83	4.37	4.37	0.52481	.	0.322034	0.28790	N	0.014121	T	0.33904	0.0879	N	0.24115	0.695	0.80722	D	1	P	0.47409	0.895	B	0.42030	0.373	T	0.07654	-1.0761	10	0.22109	T	0.4	-24.6051	13.8345	0.63402	0.0:1.0:0.0:0.0	.	249	P47974	TISD_HUMAN	Q	249	ENSP00000282388:E249Q	ENSP00000282388:E249Q	E	-	1	0	ZFP36L2	43305702	1.000000	0.71417	0.979000	0.43373	0.137000	0.21094	3.566000	0.53805	1.974000	0.57490	0.561000	0.74099	GAG		0.751	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2		NM_006887		3	36	0	0	0	0.009096	0	3	36		
ABCG8	64241	broad.mit.edu	37	2	44102359	44102359	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:44102359G>A	ENST00000272286.2	+	11	1653	c.1563G>A	c.(1561-1563)ctG>ctA	p.L521L		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	521	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGGCCAACCTGAGGCCAGGCC	0.622																																						uc002rtq.2		NaN																	0				skin(3)|ovary(1)	4						c.(1561-1563)CTG>CTA		ATP-binding cassette sub-family G member 8							74.0	67.0	69.0					2																	44102359		2203	4300	6503	SO:0001819	synonymous_variant	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44102359G>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1563G>A	2.37:g.44102359G>A						ABCG8_uc010yoa.1_Silent_p.L520L	p.L521L	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			11	1653	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	521			Extracellular (Potential).|ABC transmembrane type-2.		Q53QN8	Silent	SNP	ENST00000272286.2	37	c.1563G>A	CCDS1815.1																																																																																				0.622	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1		NM_022437		12	140	0	0	0	0.003163	0	12	140		
SPTBN1	6711	broad.mit.edu	37	2	54843421	54843421	+	Silent	SNP	G	G	A	rs374090816		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:54843421G>A	ENST00000356805.4	+	5	833	c.552G>A	c.(550-552)caG>caA	p.Q184Q	SPTBN1_ENST00000333896.5_Silent_p.Q171Q	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	184	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGTGGTGCCAGATGAAGACAG	0.433																																						uc002rxu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(550-552)CAG>CAA		spectrin, beta, non-erythrocytic 1 isoform 1		G	,	0,4406		0,0,2203	162.0	138.0	146.0		552,513	5.8	1.0	2		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPTBN1	NM_003128.2,NM_178313.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	184/2365,171/2156	54843421	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54843421G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.552G>A	2.37:g.54843421G>A						SPTBN1_uc002rxv.1_Silent_p.Q184Q|SPTBN1_uc002rxx.2_Silent_p.Q171Q	p.Q184Q	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		5	801	+			184			CH 2.|Actin-binding.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.552G>A	CCDS33198.1																																																																																				0.433	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3				15	75	0	0	0	0.006122	0	15	75		
REL	5966	broad.mit.edu	37	2	61148963	61148963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:61148963G>A	ENST00000295025.8	+	11	1473	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	REL_ENST00000394479.3_Missense_Mutation_p.E353K	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	385					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AAGTCAAGCAGAATCCTACTA	0.453			A		Hodgkin Lymphoma																																	uc002sam.1		NaN		Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				ovary(2)|breast(1)	3						c.(1153-1155)GAA>AAA		v-rel reticuloendotheliosis viral oncogene							98.0	97.0	97.0					2																	61148963		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61148963G>A	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1153G>A	2.37:g.61148963G>A	ENSP00000295025:p.Glu385Lys					REL_uc002san.1_Missense_Mutation_p.E353K	p.E385K	NM_002908	NP_002899	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		11	1377	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	385					Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.1153G>A	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594018	0.28445	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.46819	0.86;0.92	5.54	4.62	0.57501	.	2.400170	0.01214	N	0.007906	T	0.40522	0.1120	L	0.29908	0.895	0.09310	N	1	B;P	0.35433	0.361;0.501	B;B	0.30646	0.039;0.118	T	0.37502	-0.9703	10	0.14656	T	0.56	-35.5853	15.0892	0.72180	0.0:0.1548:0.8452:0.0	.	353;385	Q17RU2;Q04864	.;REL_HUMAN	K	385;353	ENSP00000295025:E385K;ENSP00000377989:E353K	ENSP00000295025:E385K	E	+	1	0	REL	61002467	0.029000	0.19370	0.895000	0.35142	0.893000	0.52053	1.753000	0.38359	2.614000	0.88457	0.650000	0.86243	GAA		0.453	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3		NM_002908		9	82	0	0	0	0.006214	0	9	82		
XPO1	7514	broad.mit.edu	37	2	61721193	61721193	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:61721193C>T	ENST00000401558.2	-	12	1808	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	XPO1_ENST00000406957.1_Missense_Mutation_p.E361K|XPO1_ENST00000404992.2_Missense_Mutation_p.E361K	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	361	Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TCAGTTTCTTCTACTTCAGAT	0.348			Mis		CLL																																	uc002sbj.2		NaN	-'	Dom	yes		2	2p15	7514		"""exportin 1 (CRM1 homolog, yeast)"""			L					0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4						c.(1081-1083)GAA>AAA		exportin 1							89.0	95.0	93.0					2																	61721193		2203	4300	6503	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61721193C>T	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1081G>A	2.37:g.61721193C>T	ENSP00000384863:p.Glu361Lys					XPO1_uc010fcl.2_Missense_Mutation_p.E357K|XPO1_uc010ypn.1_Missense_Mutation_p.E357K|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_Missense_Mutation_p.E8K	p.E361K	NM_003400	NP_003391	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		12	1809	-			361			HEAT 3.|Necessary for HTLV-1 Rex-mediated mRNA export.|Interaction with Ran and nuclear export complex formation.		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.1081G>A	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080943	0.94050	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.67171	-0.25;-0.25;-0.25	6.08	6.08	0.98989	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68751	0.3035	M	0.72118	2.19	0.80722	D	1	P	0.38335	0.627	B	0.36504	0.226	T	0.66646	-0.5871	10	0.32370	T	0.25	-19.9576	20.6721	0.99693	0.0:1.0:0.0:0.0	.	361	O14980	XPO1_HUMAN	K	361	ENSP00000384863:E361K;ENSP00000385942:E361K;ENSP00000385559:E361K	ENSP00000384863:E361K	E	-	1	0	XPO1	61574697	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.809000	0.86057	2.894000	0.99253	0.591000	0.81541	GAA		0.348	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3		NM_003400		4	36	0	0	0	0.000602	0	4	36		
B3GNT2	10678	broad.mit.edu	37	2	62450306	62450306	+	Silent	SNP	G	G	C	rs561850329		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:62450306G>C	ENST00000301998.4	+	2	1203	c.951G>C	c.(949-951)ctG>ctC	p.L317L	B3GNT2_ENST00000405767.1_Silent_p.L317L	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	317					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			ACCTGGCCCTGAGGCTGTACC	0.522																																						uc002sbs.2		NaN																	0				ovary(1)	1						c.(949-951)CTG>CTC		UDP-GlcNAc:betaGal							58.0	59.0	59.0					2																	62450306		2203	4300	6503	SO:0001819	synonymous_variant	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62450306G>C	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.951G>C	2.37:g.62450306G>C							p.L317L	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	1189	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		317			Lumenal (Potential).		Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Silent	SNP	ENST00000301998.4	37	c.951G>C	CCDS1870.1																																																																																				0.522	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2		NM_006577		23	97	0	0	0	0.004656	0	23	97		
OTX1	5013	broad.mit.edu	37	2	63283012	63283012	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:63283012C>T	ENST00000282549.2	+	5	902	c.626C>T	c.(625-627)tCc>tTc	p.S209F	OTX1_ENST00000366671.3_Missense_Mutation_p.S209F	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	209					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ATGCAGCGCTCCGTAGCTGCA	0.682																																						uc002scd.2		NaN																	0				pancreas(2)	2						c.(625-627)TCC>TTC		orthodenticle homeobox 1							17.0	19.0	18.0					2																	63283012		2198	4294	6492	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283012C>T		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.626C>T	2.37:g.63283012C>T	ENSP00000282549:p.Ser209Phe					OTX1_uc010ypt.1_Missense_Mutation_p.S143F	p.S209F	NM_014562	NP_055377	P32242	OTX1_HUMAN			5	874	+	Lung NSC(7;0.121)|all_lung(7;0.211)		209					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.626C>T	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329113	0.41197	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.87571	-2.27;-2.27	3.41	3.41	0.39046	Transcription factor Otx, C-terminal (1);	0.000000	0.64402	D	0.000008	D	0.91345	0.7270	M	0.73962	2.25	0.50039	D	0.999846	D	0.60160	0.987	D	0.67382	0.951	D	0.91002	0.4843	10	0.51188	T	0.08	.	10.4869	0.44729	0.0:1.0:0.0:0.0	.	209	P32242	OTX1_HUMAN	F	209	ENSP00000355631:S209F;ENSP00000282549:S209F	ENSP00000282549:S209F	S	+	2	0	OTX1	63136516	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.028000	0.76470	1.901000	0.55032	0.462000	0.41574	TCC		0.682	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1				7	36	0	0	0	0.00308	0	7	36		
CEP68	23177	broad.mit.edu	37	2	65296855	65296855	+	Missense_Mutation	SNP	G	G	A	rs528823795		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:65296855G>A	ENST00000377990.2	+	2	480	c.277G>A	c.(277-279)Gag>Aag	p.E93K	RAB1A_ENST00000494188.1_5'Flank|CEP68_ENST00000546106.1_Missense_Mutation_p.E93K|CEP68_ENST00000537589.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.E93K	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	93					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCCCGTAGCTGAGAGGTCTGA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18841	0.001		0.0	False		,,,				2504	0.0					uc002sdl.3		NaN																	0				skin(1)	1						c.(277-279)GAG>AAG		centrosomal protein 68kDa							47.0	52.0	50.0					2																	65296855		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65296855G>A	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.277G>A	2.37:g.65296855G>A	ENSP00000367229:p.Glu93Lys					CEP68_uc002sdj.2_Missense_Mutation_p.E93K|CEP68_uc010yqb.1_Missense_Mutation_p.E93K|CEP68_uc002sdk.3_Missense_Mutation_p.E93K|CEP68_uc010yqc.1_Missense_Mutation_p.E93K|CEP68_uc010yqd.1_Missense_Mutation_p.E93K	p.E93K	NM_015147	NP_055962	Q76N32	CEP68_HUMAN			2	491	+			93					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.277G>A	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403555	0.25291	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.30182	1.54;1.54;1.54	4.01	3.13	0.36017	.	1.647050	0.03330	N	0.193308	T	0.19565	0.0470	N	0.14661	0.345	0.18873	N	0.999987	B;B;B;B;B	0.33103	0.119;0.119;0.119;0.397;0.119	B;B;B;B;B	0.33960	0.051;0.051;0.051;0.173;0.051	T	0.21724	-1.0237	10	0.11794	T	0.64	0.0966	7.6194	0.28177	0.1139:0.0:0.8861:0.0	.	81;93;93;93;93	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	K	93;93;93;81	ENSP00000367229:E93K;ENSP00000438306:E93K;ENSP00000260569:E93K	ENSP00000260569:E93K	E	+	1	0	CEP68	65150359	0.005000	0.15991	0.003000	0.11579	0.017000	0.09413	1.049000	0.30392	1.278000	0.44430	0.655000	0.94253	GAG		0.617	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2		NM_015147		9	80	0	0	0	0.008291	0	9	80		
PCYOX1	51449	broad.mit.edu	37	2	70485407	70485407	+	Splice_Site	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:70485407C>T	ENST00000433351.2	+	1	139	c.111C>T	c.(109-111)atC>atT	p.I37I	PCYOX1_ENST00000505044.2_Intron|PCYOX1_ENST00000264441.5_Splice_Site_p.I37I|PCYOX1_ENST00000545138.1_5'Flank	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	37					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAGATAAAATCGGTAGGCGAG	0.726																																						uc002sgn.3		NaN																	0				central_nervous_system(1)	1						c.(109-111)ATC>ATT		prenylcysteine oxidase 1 precursor							16.0	19.0	18.0					2																	70485407		2199	4295	6494	SO:0001630	splice_region_variant	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70485407C>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.112+1C>T	2.37:g.70485407C>T						PCYOX1_uc010fdo.2_Intron|PCYOX1_uc010yqu.1_Silent_p.I37I	p.I37I	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN			1	177	+			37					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Silent	SNP	ENST00000433351.2	37	c.111C>T	CCDS1902.1																																																																																				0.726	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3		NM_016297	Silent	4	17	0	0	0	0.001168	0	4	17		
NAGK	55577	broad.mit.edu	37	2	71302769	71302769	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:71302769G>A	ENST00000244204.6	+	7	726	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	NAGK_ENST00000443938.2_Missense_Mutation_p.E222K|NAGK_ENST00000418807.3_Missense_Mutation_p.E171K|NAGK_ENST00000443872.2_Missense_Mutation_p.E74K|NAGK_ENST00000455662.2_Missense_Mutation_p.E268K			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	222					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)	p.E222K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GAAAATTGCAGAAGGTACTGG	0.493																																						uc002shp.3		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(664-666)GAA>AAA		N-Acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)						79.0	73.0	75.0					2																	71302769		2203	4300	6503	SO:0001583	missense	55577				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	g.chr2:71302769G>A	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.664G>A	2.37:g.71302769G>A	ENSP00000244204:p.Glu222Lys					NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Missense_Mutation_p.E73K|NAGK_uc002shr.2_Missense_Mutation_p.E171K	p.E222K	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN			7	1070	+			222					B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	37	c.664G>A		.	.	.	.	.	.	.	.	.	.	G	19.87	3.907640	0.72868	.	.	ENSG00000124357	ENST00000244204;ENST00000455662;ENST00000531934;ENST00000418807	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.02	5.02	0.67125	ATPase, BadF/BadG/BcrA/BcrD type (1);	0.112252	0.64402	D	0.000014	T	0.36496	0.0969	L	0.39467	1.215	0.80722	D	1	D	0.57257	0.979	P	0.53401	0.725	T	0.02625	-1.1132	10	0.18276	T	0.48	-22.1172	16.2286	0.82318	0.0:0.0:1.0:0.0	.	222	Q9UJ70	NAGK_HUMAN	K	222;268;74;171	ENSP00000244204:E222K;ENSP00000389087:E268K;ENSP00000436326:E74K;ENSP00000396070:E171K	ENSP00000244204:E222K	E	+	1	0	NAGK	71156277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.593000	0.90832	2.495000	0.84180	0.655000	0.94253	GAA		0.493	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1				10	56	0	0	0	0.001368	0	10	56		
ALMS1	7840	broad.mit.edu	37	2	73799556	73799556	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:73799556C>T	ENST00000264448.6	+	16	10660	c.10549C>T	c.(10549-10551)Cat>Tat	p.H3517Y	ALMS1_ENST00000409009.1_Missense_Mutation_p.H3475Y	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3517					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTTTCAGCATCATCCAGACAA	0.383																																						uc002sje.1		NaN																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(10555-10557)CAT>TAT		Alstrom syndrome 1							93.0	85.0	87.0					2																	73799556		1883	4113	5996	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73799556C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.10549C>T	2.37:g.73799556C>T	ENSP00000264448:p.His3517Tyr					ALMS1_uc002sjf.1_Missense_Mutation_p.H3475Y|ALMS1_uc002sjg.2_Missense_Mutation_p.H2905Y|ALMS1_uc002sjh.1_Missense_Mutation_p.H2905Y	p.H3519Y	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			18	10666	+			3517					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.10555C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892372	0.52121	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.07800	3.17;3.16	5.45	4.57	0.56435	.	0.000000	0.49305	D	0.000145	T	0.17662	0.0424	L	0.38175	1.15	0.25235	N	0.989796	D;D;D	0.76494	0.987;0.999;0.999	P;D;D	0.76575	0.827;0.988;0.988	T	0.01436	-1.1355	10	0.87932	D	0	.	10.5222	0.44924	0.0:0.908:0.0:0.0919	.	3517;3475;3517	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	Y	3475;3517	ENSP00000386627:H3475Y;ENSP00000264448:H3517Y	ENSP00000264448:H3517Y	H	+	1	0	ALMS1	73653064	0.002000	0.14202	1.000000	0.80357	0.781000	0.44180	0.294000	0.19047	2.585000	0.87301	0.655000	0.94253	CAT		0.383	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120		6	19	0	0	0	0.001984	0	6	19		
MOB1A	55233	broad.mit.edu	37	2	74399752	74399752	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:74399752G>A	ENST00000396049.4	-	2	335	c.142C>T	c.(142-144)Cct>Tct	p.P48S	MOB1A_ENST00000497054.1_5'UTR|MOB1A_ENST00000409969.2_Missense_Mutation_p.P48S	NM_018221.3	NP_060691.2	Q9H8S9	MOB1A_HUMAN	MOB kinase activator 1A	48					hippo signaling (GO:0035329)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)										TCTCCCTCAGGCAACATAACA	0.373																																						uc002skh.3		NaN																	0					0						c.(142-144)CCT>TCT		Mob4B protein							148.0	137.0	140.0					2																	74399752		1890	4122	6012	SO:0001583	missense	55233				hippo signaling cascade		metal ion binding|protein binding	g.chr2:74399752G>A		CCDS46340.1	2p13.1	2011-09-28	2011-09-28	2011-09-27	ENSG00000114978	ENSG00000114978		"""MOB kinase activators"""	16015	protein-coding gene	gene with protein product		609281	"""chromosome 2 open reading frame 6"", ""MOB1, Mps One Binder kinase activator-like 1B (yeast)"", ""MOB1 Mps One Binder homolog A (yeast)"""	C2orf6, MOBK1B, MOBKL1B		11319234, 20624913	Standard	NM_018221		Approved	FLJ10788, MOB1, FLJ11595, Mob4B, Mats1	uc002skh.4	Q9H8S9	OTTHUMG00000152833	ENST00000396049.4:c.142C>T	2.37:g.74399752G>A	ENSP00000379364:p.Pro48Ser					MOBKL1B_uc002ski.2_Missense_Mutation_p.P48S	p.P48S	NM_018221	NP_060691	Q9H8S9	MOL1B_HUMAN			2	336	-			48					Q53S34|Q9H3T5|Q9HAI0|Q9NVE2	Missense_Mutation	SNP	ENST00000396049.4	37	c.142C>T	CCDS46340.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737450	0.89482	.	.	ENSG00000114978	ENST00000396049;ENST00000409969	.	.	.	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.90024	0.6885	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93648	0.6970	9	0.87932	D	0	.	14.9217	0.70843	0.0:0.0:1.0:0.0	.	48;48	Q9H8S9-2;Q9H8S9	.;MOB1A_HUMAN	S	48	.	ENSP00000379364:P48S	P	-	1	0	MOBKL1B	74253260	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.618000	0.98365	2.362000	0.80069	0.655000	0.94253	CCT		0.373	MOB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328200.2		NM_018221		7	99	0	0	0	0.006214	0	7	99		
WDR54	84058	broad.mit.edu	37	2	74650498	74650498	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:74650498G>C	ENST00000348227.4	+	4	426	c.338G>C	c.(337-339)gGa>gCa	p.G113A	WDR54_ENST00000461531.1_3'UTR|WDR54_ENST00000409791.1_Missense_Mutation_p.G61A	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	113										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						CTGGACTCTGGAGATGCCTCC	0.567																																						uc002slb.2		NaN																	0					0						c.(337-339)GGA>GCA		WD repeat domain 54							135.0	131.0	133.0					2																	74650498		2203	4300	6503	SO:0001583	missense	84058							g.chr2:74650498G>C	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.338G>C	2.37:g.74650498G>C	ENSP00000006526:p.Gly113Ala						p.G113A	NM_032118	NP_115494	Q9H977	WDR54_HUMAN			4	398	+			113					D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.338G>C	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	G	5.054	0.195567	0.09599	.	.	ENSG00000005448	ENST00000409791;ENST00000426787;ENST00000348227	T;T	0.51071	0.72;0.72	5.69	4.81	0.61882	WD40 repeat-like-containing domain (1);	0.275530	0.36034	N	0.002822	T	0.21962	0.0529	N	0.03608	-0.345	0.39195	D	0.963049	B	0.02656	0.0	B	0.04013	0.001	T	0.11108	-1.0601	10	0.08381	T	0.77	-5.4193	11.6277	0.51156	0.0831:0.0:0.9169:0.0	.	113	Q9H977	WDR54_HUMAN	A	61;113;113	ENSP00000387236:G61A;ENSP00000006526:G113A	ENSP00000006526:G113A	G	+	2	0	WDR54	74504006	0.601000	0.26907	0.987000	0.45799	0.994000	0.84299	2.238000	0.43070	1.398000	0.46701	0.655000	0.94253	GGA		0.567	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1		NM_032118		25	262	0	0	0	0.00632	0	25	262		
DQX1	165545	broad.mit.edu	37	2	74756246	74756246	+	5'Flank	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:74756246C>T	ENST00000404568.3	-	0	0				HTRA2_ENST00000352222.3_5'Flank|AUP1_ENST00000377526.3_Intron|HTRA2_ENST00000258080.3_5'Flank|DQX1_ENST00000393951.2_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTCTCGGCCTCGCTCTCACTC	0.602																																						uc010yry.1		NaN																	0					0						c.(352-354)GAG>AAG		SubName: Full=cDNA FLJ58836, highly similar to Ancient ubiquitous protein 1;							55.0	58.0	57.0					2																	74756246		2023	4187	6210	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74756246C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74756246C>T	Exception_encountered					DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Intron|AUP1_uc002smg.2_Intron|AUP1_uc002smh.2_5'UTR|AUP1_uc010yrx.1_Intron|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank	p.E118K			Q9Y679	AUP1_HUMAN			3	570	-			118			Cytoplasmic (Potential).		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.352G>A	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312591	0.23908	.	.	ENSG00000115307	ENST00000258081	.	.	.	4.38	2.58	0.30949	.	1.206560	0.06386	N	0.716082	T	0.16854	0.0405	.	.	.	0.21105	N	0.999786	B	0.13145	0.007	B	0.06405	0.002	T	0.18304	-1.0341	8	0.05833	T	0.94	.	8.3424	0.32252	0.0:0.8044:0.0:0.1956	.	118	B4DW71	.	K	118	.	ENSP00000258081:E118K	E	-	1	0	AUP1	74609754	0.000000	0.05858	0.014000	0.15608	0.869000	0.49853	0.197000	0.17197	0.489000	0.27749	0.561000	0.74099	GAG		0.602	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3		NM_133637		8	51	0	0	0	0.008291	0	8	51		
POLR1A	25885	broad.mit.edu	37	2	86255054	86255054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:86255054C>T	ENST00000263857.6	-	33	5394	c.5016G>A	c.(5014-5016)atG>atA	p.M1672I	POLR1A_ENST00000409681.1_Missense_Mutation_p.M1611I			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1672					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.M1672I(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTTCAAATGTCATCTGCTGTA	0.542																																						uc002sqs.2		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|skin(1)	3						c.(5014-5016)ATG>ATA		DNA-directed RNA polymerase I A							88.0	96.0	93.0					2																	86255054		1997	4170	6167	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86255054C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.5016G>A	2.37:g.86255054C>T	ENSP00000263857:p.Met1672Ile					POLR1A_uc010ytb.1_Missense_Mutation_p.M1038I	p.M1672I	NM_015425	NP_056240	O95602	RPA1_HUMAN			33	5395	-			1672					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.5016G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561919	0.86335	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.67523	-0.27;-0.27	5.36	5.36	0.76844	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	M	0.76170	2.325	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	T	0.80500	-0.1355	10	0.38643	T	0.18	-30.26	19.0945	0.93244	0.0:1.0:0.0:0.0	.	1672	O95602	RPA1_HUMAN	I	1672;1611	ENSP00000263857:M1672I;ENSP00000386300:M1611I	ENSP00000263857:M1672I	M	-	3	0	POLR1A	86108565	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.487000	0.81328	2.531000	0.85337	0.561000	0.74099	ATG		0.542	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2		NM_015425		11	95	0	0	0	0.001368	0	11	95		
ADRA2B	151	broad.mit.edu	37	2	96780656	96780656	+	Silent	SNP	G	G	A	rs541934198		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:96780656G>A	ENST00000409345.3	-	1	1328	c.1233C>T	c.(1231-1233)atC>atT	p.I411I		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	411					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGCAGTAGCCGATCCAGAAGA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		16840	0.0		0.0	False		,,,				2504	0.001					uc002svi.2		NaN																	0				ovary(2)|lung(1)	3						c.(1240-1242)ATC>ATT		alpha-2B-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						44.0	53.0	50.0					2																	96780656		2170	4282	6452	SO:0001819	synonymous_variant	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96780656G>A	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.1233C>T	2.37:g.96780656G>A							p.I414I	NM_000682	NP_000673	P18089	ADA2B_HUMAN			3	1242	-			414			Helical; Name=7; (By similarity).		Q4TUH9|Q53RF2|Q9BZK0	Silent	SNP	ENST00000409345.3	37	c.1242C>T	CCDS56129.1																																																																																				0.582	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1				3	28	0	0	0	0.004672	0	3	28		
TMEM127	55654	broad.mit.edu	37	2	96932160	96932160	+	5'Flank	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:96932160G>A	ENST00000258439.3	-	0	0				CIAO1_ENST00000469320.1_3'UTR|TMEM127_ENST00000432959.1_5'Flank|CIAO1_ENST00000488633.1_Nonsense_Mutation_p.W24*	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						TCCTGGCCTGGAACCCCGCGG	0.741																																						uc002svs.2		NaN																	0					0						c.(70-72)TGG>TGA		WD repeat domain 39							11.0	15.0	14.0					2																	96932160		2179	4267	6446	SO:0001631	upstream_gene_variant	9391				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding	g.chr2:96932160G>A	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96932160G>A	Exception_encountered					TMEM127_uc002svq.2_5'Flank|TMEM127_uc002svr.2_5'Flank	p.W24*	NM_004804	NP_004795	O76071	CIAO1_HUMAN			1	277	+			24			WD 1.		D3DXH0	Nonsense_Mutation	SNP	ENST00000258439.3	37	c.72G>A	CCDS2018.1	.	.	.	.	.	.	.	.	.	.	G	38	7.069842	0.98040	.	.	ENSG00000144021	ENST00000488633	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-55.2451	17.6204	0.88079	0.0:0.0:1.0:0.0	.	.	.	.	X	24	.	ENSP00000418287:W24X	W	+	3	0	CIAO1	96295887	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.913000	0.92730	2.837000	0.97791	0.655000	0.94253	TGG		0.741	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3		NM_017849		8	27	0	0	0	0.004482	0	8	27		
NPAS2	4862	broad.mit.edu	37	2	101554280	101554280	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:101554280C>T	ENST00000335681.5	+	5	624	c.339C>T	c.(337-339)atC>atT	p.I113I	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Silent_p.I178I	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	113	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGACAGTATCACGCCTCTCC	0.453																																						uc002tap.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(337-339)ATC>ATT		neuronal PAS domain protein 2							255.0	219.0	231.0					2																	101554280		2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101554280C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.339C>T	2.37:g.101554280C>T						NPAS2_uc010yvt.1_Silent_p.I178I	p.I113I	NM_002518	NP_002509	Q99743	NPAS2_HUMAN			5	625	+			113			PAS 1.		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.339C>T	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.79|10.79	1.449463|1.449463	0.26074|0.26074	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000448812|ENST00000427413	.|.	.|.	.|.	5.93|5.93	3.15|3.15	0.36227|0.36227	.|.	.|.	.|.	.|.	.|.	T|T	0.53142|0.53142	0.1778|0.1778	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49513|0.49513	-0.8932|-0.8932	4|4	.|.	.|.	.|.	.|.	5.4933|5.4933	0.16789|0.16789	0.1414:0.604:0.0:0.2546|0.1414:0.604:0.0:0.2546	.|.	.|.	.|.	.|.	Y|L	103|179	.|.	.|.	H|S	+|+	1|2	0|0	NPAS2|NPAS2	100920712|100920712	0.860000|0.860000	0.29831|0.29831	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	-0.146000|-0.146000	0.10250|0.10250	1.506000|1.506000	0.48736|0.48736	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.453	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3				31	178	0	0	0	0.00874	0	31	178		
IL18RAP	8807	broad.mit.edu	37	2	103057804	103057804	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:103057804G>A	ENST00000264260.2	+	7	1352	c.763G>A	c.(763-765)Gat>Aat	p.D255N	AC007278.3_ENST00000450893.1_RNA|IL18RAP_ENST00000409369.1_Missense_Mutation_p.D113N	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	255	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGATATTCTGGATCCTGTCGA	0.443																																						uc002tbx.2		NaN																	0				skin(3)|ovary(2)	5						c.(763-765)GAT>AAT		interleukin 18 receptor accessory protein							123.0	104.0	111.0					2																	103057804		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103057804G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.763G>A	2.37:g.103057804G>A	ENSP00000264260:p.Asp255Asn					IL18RAP_uc010fiz.2_Missense_Mutation_p.D113N	p.D255N	NM_003853	NP_003844	O95256	I18RA_HUMAN			7	1247	+			255			Ig-like C2-type 2.|Extracellular (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.763G>A	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265943	0.40095	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.13420	2.59;2.59	5.07	2.07	0.26955	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.749345	0.12545	N	0.459568	T	0.16342	0.0393	M	0.65975	2.015	0.31054	N	0.714846	P	0.39920	0.695	B	0.42593	0.392	T	0.12293	-1.0553	10	0.27082	T	0.32	.	5.762	0.18205	0.0929:0.0:0.567:0.34	.	255	O95256	I18RA_HUMAN	N	255;113	ENSP00000264260:D255N;ENSP00000387201:D113N	ENSP00000264260:D255N	D	+	1	0	IL18RAP	102424236	0.997000	0.39634	0.984000	0.44739	0.516000	0.34256	0.937000	0.28951	0.512000	0.28257	0.491000	0.48974	GAT		0.443	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2		NM_003853		3	63	0	0	0	0.009096	0	3	63		
BUB1	699	broad.mit.edu	37	2	111419343	111419343	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:111419343G>C	ENST00000302759.6	-	10	1151	c.1033C>G	c.(1033-1035)Cag>Gag	p.Q345E	BUB1_ENST00000409311.1_Missense_Mutation_p.Q345E|BUB1_ENST00000535254.1_Missense_Mutation_p.Q325E	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	345					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGTGTCTGCTGATAGGTTACT	0.488																																						uc002tgc.2		NaN																	0				lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(1033-1035)CAG>GAG		budding uninhibited by benzimidazoles 1							147.0	139.0	141.0					2																	111419343		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111419343G>C	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1033C>G	2.37:g.111419343G>C	ENSP00000302530:p.Gln345Glu					BUB1_uc010yxh.1_Missense_Mutation_p.Q325E|BUB1_uc010fkb.2_Missense_Mutation_p.Q345E|BUB1_uc002tgd.2_Missense_Mutation_p.Q345E	p.Q345E	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	10	1145	-		Ovarian(717;0.0822)	345					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.1033C>G	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367252	0.41902	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.30448	2.28;1.53;2.54	5.09	5.09	0.68999	.	0.749007	0.13452	N	0.386825	T	0.24084	0.0583	L	0.40543	1.245	0.09310	N	1	B;B;B	0.18013	0.021;0.025;0.02	B;B;B	0.21151	0.033;0.013;0.006	T	0.27571	-1.0070	10	0.02654	T	1	5.0E-4	14.1797	0.65566	0.0:0.0:1.0:0.0	.	325;345;345	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	E	325;345;345;345	ENSP00000441013:Q325E;ENSP00000386701:Q345E;ENSP00000302530:Q345E	ENSP00000302530:Q345E	Q	-	1	0	BUB1	111135816	0.045000	0.20229	0.016000	0.15963	0.203000	0.24098	2.587000	0.46128	2.797000	0.96272	0.555000	0.69702	CAG		0.488	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1		NM_004336		7	95	0	0	0	0.006214	0	7	95		
SLC20A1	6574	broad.mit.edu	37	2	113417184	113417184	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:113417184C>G	ENST00000272542.3	+	8	1991	c.1452C>G	c.(1450-1452)gtC>gtG	p.V484V		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	484					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						ACATGAGTGTCAAGGCAGAGA	0.463																																						uc002tib.2		NaN																	0				ovary(2)	2						c.(1450-1452)GTC>GTG		solute carrier family 20 (phosphate							166.0	161.0	163.0					2																	113417184		2203	4300	6503	SO:0001819	synonymous_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113417184C>G		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1452C>G	2.37:g.113417184C>G						SLC20A1_uc002tic.1_Silent_p.V296V	p.V484V	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN			8	1898	+			484			Cytoplasmic (Potential).		Q08344|Q6DHX8|Q9UQ82	Silent	SNP	ENST00000272542.3	37	c.1452C>G	CCDS2099.1																																																																																				0.463	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2		NM_005415		26	135	0	0	0	0.012213	0	26	135		
IL1B	3553	broad.mit.edu	37	2	113593149	113593149	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:113593149C>T	ENST00000263341.2	-	3	303	c.93G>A	c.(91-93)caG>caA	p.Q31Q	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	31					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	TTACCTTCATCTGTTTAGGGC	0.423																																						uc002tii.1		NaN																	0				lung(3)|breast(1)	4						c.(91-93)CAG>CAA		interleukin 1, beta proprotein	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						137.0	121.0	126.0					2																	113593149		2203	4300	6503	SO:0001819	synonymous_variant	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113593149C>T	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.93G>A	2.37:g.113593149C>T						IL1B_uc002tih.1_5'UTR	p.Q31Q	NM_000576	NP_000567	P01584	IL1B_HUMAN			3	180	-			31					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Silent	SNP	ENST00000263341.2	37	c.93G>A	CCDS2102.1																																																																																				0.423	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2		NM_000576		6	61	0	0	0	0.00308	0	6	61		
EN1	2019	broad.mit.edu	37	2	119600619	119600619	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:119600619G>A	ENST00000295206.6	-	2	1584	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	358					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						TGGCTTTCTTGATCTTGGCGC	0.602																																						uc002tlm.2		NaN																	0				large_intestine(1)|lung(1)	2						c.(1072-1074)ATC>ATT		engrailed homeobox 1							84.0	75.0	78.0					2																	119600619		2203	4300	6503	SO:0001819	synonymous_variant	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119600619G>A	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.1074C>T	2.37:g.119600619G>A							p.I358I	NM_001426	NP_001417	Q05925	HME1_HUMAN			2	2090	-			358			Homeobox.		Q4ZG44	Silent	SNP	ENST00000295206.6	37	c.1074C>T	CCDS2123.1																																																																																				0.602	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3				10	62	0	0	0	0.008291	0	10	62		
EN1	2019	broad.mit.edu	37	2	119604494	119604494	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:119604494G>C	ENST00000295206.6	-	1	760	c.250C>G	c.(250-252)Cag>Gag	p.Q84E	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	84					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCGAGATGCTGAggcggcggg	0.751																																						uc002tlm.2		NaN																	0				large_intestine(1)|lung(1)	2						c.(250-252)CAG>GAG		engrailed homeobox 1							9.0	11.0	10.0					2																	119604494		1670	3410	5080	SO:0001583	missense	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119604494G>C	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.250C>G	2.37:g.119604494G>C	ENSP00000295206:p.Gln84Glu						p.Q84E	NM_001426	NP_001417	Q05925	HME1_HUMAN			1	1266	-			84					Q4ZG44	Missense_Mutation	SNP	ENST00000295206.6	37	c.250C>G	CCDS2123.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.954545	0.00470	.	.	ENSG00000163064	ENST00000295206	D	0.90955	-2.76	2.32	2.32	0.28847	.	.	.	.	.	T	0.76256	0.3962	N	0.14661	0.345	0.27847	N	0.940886	P	0.38110	0.618	B	0.23018	0.043	T	0.67284	-0.5709	8	.	.	.	-8.3262	8.101	0.30857	0.0:0.0:1.0:0.0	.	84	Q05925	HME1_HUMAN	E	84	ENSP00000295206:Q84E	.	Q	-	1	0	EN1	119320964	0.096000	0.21769	0.766000	0.31476	0.014000	0.08584	2.300000	0.43620	1.280000	0.44463	0.430000	0.28490	CAG		0.751	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3				5	32	0	0	0	0.00308	0	5	32		
DBI	1622	broad.mit.edu	37	2	120125785	120125785	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:120125785G>A	ENST00000355857.3	+	2	162	c.31G>A	c.(31-33)Gag>Aag	p.E11K	DBI_ENST00000460901.1_3'UTR|C2orf76_ENST00000409877.1_5'Flank|DBI_ENST00000409094.1_Missense_Mutation_p.E28K|C2orf76_ENST00000498049.1_5'Flank|DBI_ENST00000535617.1_Missense_Mutation_p.E53K|DBI_ENST00000311521.4_Missense_Mutation_p.E28K|C2orf76_ENST00000334816.7_5'Flank|DBI_ENST00000542275.1_Missense_Mutation_p.E72K|DBI_ENST00000393103.2_Missense_Mutation_p.E12K|C2orf76_ENST00000409466.2_5'Flank|DBI_ENST00000535757.1_Missense_Mutation_p.E28K|C2orf76_ENST00000409523.1_5'Flank	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	11	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						GAAAGCTGCAGAGGAGGTTAG	0.502																																						uc002tlv.2		NaN																	0					0						c.(31-33)GAG>AAG		diazepam binding inhibitor isoform 3							122.0	110.0	114.0					2																	120125785		2203	4300	6503	SO:0001583	missense	1622				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding	g.chr2:120125785G>A	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"""endozepine"""	125950	"""diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"""			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.31G>A	2.37:g.120125785G>A	ENSP00000348116:p.Glu11Lys					C2orf76_uc002tls.2_5'Flank|C2orf76_uc010flf.1_5'Flank|C2orf76_uc010yyg.1_5'Flank|C2orf76_uc002tlt.2_5'Flank|C2orf76_uc002tlu.2_5'Flank|DBI_uc010yyh.1_Missense_Mutation_p.E28K|DBI_uc010yyi.1_Missense_Mutation_p.E28K|DBI_uc010yyj.1_RNA|DBI_uc010yyk.1_Missense_Mutation_p.E53K|DBI_uc010yyl.1_Missense_Mutation_p.E28K|DBI_uc010yym.1_Missense_Mutation_p.E21K|DBI_uc010yyn.1_Missense_Mutation_p.E28K|DBI_uc002tlw.2_Missense_Mutation_p.E28K|DBI_uc010yyo.1_RNA|DBI_uc002tlx.2_Missense_Mutation_p.E12K|DBI_uc010yyp.1_5'Flank	p.E11K	NM_001079862	NP_001073331	P07108	ACBP_HUMAN			2	155	+			11			ACB.		B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Missense_Mutation	SNP	ENST00000355857.3	37	c.31G>A	CCDS42740.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424670	0.83667	.	.	ENSG00000155368	ENST00000355857;ENST00000535617;ENST00000535757;ENST00000409094;ENST00000311521;ENST00000542275;ENST00000393103	T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0	4.6	4.6	0.57074	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	0.111598	0.64402	D	0.000015	T	0.43523	0.1251	M	0.69823	2.125	0.80722	D	1	P;D;P;B;B	0.71674	0.939;0.998;0.925;0.215;0.087	P;D;P;B;B	0.67725	0.67;0.953;0.54;0.304;0.168	T	0.22765	-1.0207	10	0.40728	T	0.16	-2.0227	15.3057	0.73990	0.0:0.0:1.0:0.0	.	21;53;12;28;11	B8ZWD1;B8ZWD7;P07108-3;B8ZWD2;P07108	.;.;.;.;ACBP_HUMAN	K	11;53;28;28;28;72;12	ENSP00000348116:E11K;ENSP00000442917:E53K;ENSP00000439012:E28K;ENSP00000386486:E28K;ENSP00000311117:E28K;ENSP00000440698:E72K;ENSP00000376815:E12K	ENSP00000311117:E28K	E	+	1	0	DBI	119842255	1.000000	0.71417	0.997000	0.53966	0.575000	0.36095	8.388000	0.90170	2.547000	0.85894	0.655000	0.94253	GAG		0.502	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1		NM_020548		13	93	0	0	0	0.003163	0	13	93		
PTPN4	5775	broad.mit.edu	37	2	120684226	120684226	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:120684226G>A	ENST00000263708.2	+	13	1825	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	352					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GGCAAATAAAGACAGGGTATT	0.284																																						uc002tmf.1		NaN																	0				ovary(2)	2						c.(1054-1056)GAC>AAC		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						112.0	121.0	118.0					2																	120684226		2203	4297	6500	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120684226G>A		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1054G>A	2.37:g.120684226G>A	ENSP00000263708:p.Asp352Asn					PTPN4_uc010flj.1_Missense_Mutation_p.D65N	p.D352N	NM_002830	NP_002821	P29074	PTN4_HUMAN			13	1825	+			352					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.1054G>A	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768791	0.31320	.	.	ENSG00000088179	ENST00000263708	D	0.86030	-2.06	4.75	4.75	0.60458	FERM adjacent (FA) (1);	0.045033	0.85682	D	0.000000	T	0.67353	0.2884	N	0.01705	-0.755	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.63216	-0.6687	10	0.18276	T	0.48	.	18.2931	0.90137	0.0:0.0:1.0:0.0	.	352	P29074	PTN4_HUMAN	N	352	ENSP00000263708:D352N	ENSP00000263708:D352N	D	+	1	0	PTPN4	120400696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.415000	0.66411	2.602000	0.87976	0.591000	0.81541	GAC		0.284	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2				9	50	0	0	0	0.001855	0	9	50		
AMER3	205147	broad.mit.edu	37	2	131520311	131520311	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:131520311C>G	ENST00000423981.1	+	2	776	c.666C>G	c.(664-666)ctC>ctG	p.L222L	AMER3_ENST00000321420.4_Silent_p.L222L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	222					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										ACAGCGAGCTCCTGGCCGATG	0.677																																						uc002trw.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(664-666)CTC>CTG		hypothetical protein LOC205147							41.0	48.0	46.0					2																	131520311		2200	4294	6494	SO:0001819	synonymous_variant	205147							g.chr2:131520311C>G	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.666C>G	2.37:g.131520311C>G						FAM123C_uc010fmv.2_Silent_p.L222L|FAM123C_uc010fms.1_Silent_p.L222L|FAM123C_uc010fmt.1_Silent_p.L222L|FAM123C_uc010fmu.1_Silent_p.L222L	p.L222L	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	856	+	Colorectal(110;0.1)		222					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.666C>G	CCDS2164.1																																																																																				0.677	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3		NM_152698		15	100	0	0	0	0.004007	0	15	100		
LRP1B	53353	broad.mit.edu	37	2	141093288	141093288	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:141093288C>T	ENST00000389484.3	-	78	12983	c.12012G>A	c.(12010-12012)ctG>ctA	p.L4004L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4004					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L4004L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGAGTACCTCAGACTGGTCC	0.458										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12010-12012)CTG>CTA		low density lipoprotein-related protein 1B							151.0	142.0	145.0					2																	141093288		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141093288C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12012G>A	2.37:g.141093288C>T		TSP Lung(27;0.18)					p.L4004L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	78	12984	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4004			Extracellular (Potential).|LDL-receptor class B 34.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.12012G>A	CCDS2182.1																																																																																				0.458	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		8	33	0	0	0	0.006214	0	8	33		
MBD5	55777	broad.mit.edu	37	2	149270460	149270460	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:149270460G>A	ENST00000407073.1	+	15	5432	c.4435G>A	c.(4435-4437)Gac>Aac	p.D1479N	MBD5_ENST00000404807.1_Missense_Mutation_p.D1712N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1479					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCCACAGGGTGACAGACAAAT	0.408																																						uc002twm.3		NaN																	0				skin(3)|ovary(2)	5						c.(4435-4437)GAC>AAC		methyl-CpG binding domain protein 5							138.0	129.0	132.0					2																	149270460		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149270460G>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4435G>A	2.37:g.149270460G>A	ENSP00000386049:p.Asp1479Asn					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.D1479N|MBD5_uc002two.2_Missense_Mutation_p.D737N|MBD5_uc002twp.2_Missense_Mutation_p.D529N	p.D1479N	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	15	5423	+			1479					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.4435G>A	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514848	0.85389	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.53857	0.69;0.6	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000003	T	0.68751	0.3035	L	0.44542	1.39	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.67317	-0.5701	10	0.62326	D	0.03	-8.6857	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1712;1479	E9PHH0;Q9P267	.;MBD5_HUMAN	N	1479;1712	ENSP00000386049:D1479N;ENSP00000384672:D1712N	ENSP00000384672:D1712N	D	+	1	0	MBD5	148986930	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.357000	0.97099	2.885000	0.99019	0.655000	0.94253	GAC		0.408	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2				5	73	0	0	0	0.001168	0	5	73		
NEB	4703	broad.mit.edu	37	2	152362007	152362007	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:152362007C>G	ENST00000172853.10	-	137	18771	c.18624G>C	c.(18622-18624)caG>caC	p.Q6208H	NEB_ENST00000427231.2_Missense_Mutation_p.Q7909H|NEB_ENST00000604864.1_Missense_Mutation_p.Q7909H|NEB_ENST00000603639.1_Missense_Mutation_p.Q7909H|NEB_ENST00000409198.1_Missense_Mutation_p.Q6208H|NEB_ENST00000397336.2_5'Flank|NEB_ENST00000509223.2_Missense_Mutation_p.Q39H|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000397345.3_Missense_Mutation_p.Q7909H			P20929	NEBU_HUMAN	nebulin	6208					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAATGTGCTTCTGCGTCTCCT	0.468																																						uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(18622-18624)CAG>CAC		nebulin isoform 3							236.0	239.0	238.0					2																	152362007		2038	4183	6221	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152362007C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18624G>C	2.37:g.152362007C>G	ENSP00000172853:p.Gln6208His					NEB_uc002txr.2_Missense_Mutation_p.Q2631H|RIF1_uc002txp.2_Intron|NEB_uc002txq.2_5'Flank|NEB_uc010zca.1_Missense_Mutation_p.Q39H|NEB_uc010zcb.1_Missense_Mutation_p.Q39H|NEB_uc002txt.3_Missense_Mutation_p.Q713H	p.Q6208H	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	137	18815	-			6208			Nebulin 170.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.18624G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.4|21.4|21.4	4.139502|4.139502|4.139502	0.77775|0.77775|0.77775	.|.|.	.|.|.	ENSG00000183091|ENSG00000183091|ENSG00000183091	ENST00000421461|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000509223;ENST00000424585|ENST00000397337;ENST00000434685	.|T;T;T;T;T;T;T|.	.|0.52057|.	.|3.22;3.11;3.12;3.0;3.22;4.02;0.68|.	5.44|5.44|5.44	4.55|4.55|4.55	0.56014|0.56014|0.56014	.|.|.	.|0.109437|.	.|0.64402|.	.|D|.	.|0.000005|.	T|T|T	0.80215|0.80215|0.80215	0.4582|0.4582|0.4582	M|M|M	0.88775|0.88775|0.88775	2.98|2.98|2.98	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;P;D;D;D|.	.|0.76494|.	.|0.997;0.947;0.999;0.999;0.997|.	.|D;P;D;D;D|.	.|0.91635|.	.|0.987;0.556;0.998;0.999;0.989|.	D|D|D	0.83445|0.83445|0.83445	0.0045|0.0045|0.0045	5|10|5	.|0.41790|.	.|T|.	.|0.15|.	.|.|.	15.1753|15.1753|15.1753	0.72907|0.72907|0.72907	0.0:0.9287:0.0:0.0713|0.0:0.9287:0.0:0.0713|0.0:0.9287:0.0:0.0713	.|.|.	.|39;39;6208;7909;2639|.	.|B7Z6B9;B7Z6P9;P20929;F8WCP0;Q14215|.	.|.;.;NEBU_HUMAN;.;.|.	Q|H|T	86|6208;7909;7909;2257;2639;6208;39;136|105;460	.|ENSP00000386259:Q6208H;ENSP00000380505:Q7909H;ENSP00000416578:Q7909H;ENSP00000410961:Q2639H;ENSP00000172853:Q6208H;ENSP00000427083:Q39H;ENSP00000404876:Q136H|.	.|ENSP00000172853:Q6208H|.	E|Q|R	-|-|-	1|3|2	0|2|0	NEB|NEB|NEB	152070253|152070253|152070253	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	5.042000|5.042000|5.042000	0.64202|0.64202|0.64202	2.723000|2.723000|2.723000	0.93209|0.93209|0.93209	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAA|CAG|AGA		0.468	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		20	116	0	0	0	0.002299	0	20	116		
STAM2	10254	broad.mit.edu	37	2	153003708	153003708	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:153003708C>T	ENST00000263904.4	-	5	764	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	139	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		GTAATTCCTTCTTCTTTCATA	0.358																																						uc002tyc.3		NaN																	0				ovary(1)	1						c.(415-417)GAA>AAA		signal transducing adaptor molecule 2							101.0	105.0	104.0					2																	153003708		2203	4300	6503	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:153003708C>T	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.415G>A	2.37:g.153003708C>T	ENSP00000263904:p.Glu139Lys					STAM2_uc010foa.1_Missense_Mutation_p.E139K|STAM2_uc002tyd.2_Missense_Mutation_p.E139K	p.E139K	NM_005843	NP_005834	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	5	765	-			139			VHS.		A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.415G>A	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567115	0.86439	.	.	ENSG00000115145	ENST00000263904	T	0.19938	2.11	5.56	4.65	0.58169	Src homology-3 domain (1);VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	L	0.41906	1.305	0.80722	D	1	P;P	0.48230	0.907;0.847	P;P	0.51866	0.682;0.678	T	0.01252	-1.1405	10	0.12103	T	0.63	-22.6303	16.4994	0.84253	0.0:0.8696:0.1304:0.0	.	139;139	O75886-2;O75886	.;STAM2_HUMAN	K	139	ENSP00000263904:E139K	ENSP00000263904:E139K	E	-	1	0	STAM2	152711954	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	1.550000	0.36223	2.620000	0.88729	0.655000	0.94253	GAA		0.358	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2		NM_005843		4	58	0	0	0	0.000602	0	4	58		
BAZ2B	29994	broad.mit.edu	37	2	160289391	160289391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:160289391C>T	ENST00000392783.2	-	9	2272	c.1777G>A	c.(1777-1779)Gga>Aga	p.G593R	BAZ2B_ENST00000355831.2_Missense_Mutation_p.G593R|BAZ2B_ENST00000343439.5_Missense_Mutation_p.G591R|BAZ2B_ENST00000392782.1_Missense_Mutation_p.G591R	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GAATCTGTTCCTCTGAATTGT	0.383																																						uc002uao.2		NaN																	0				ovary(3)|skin(1)	4						c.(1777-1779)GGA>AGA		bromodomain adjacent to zinc finger domain, 2B							164.0	156.0	159.0					2																	160289391		1941	4164	6105	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160289391C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1777G>A	2.37:g.160289391C>T	ENSP00000376534:p.Gly593Arg					BAZ2B_uc002uap.2_Missense_Mutation_p.G591R|BAZ2B_uc002uas.1_Missense_Mutation_p.G530R|BAZ2B_uc002uaq.1_Missense_Mutation_p.G521R|BAZ2B_uc002uar.1_Missense_Mutation_p.G166R	p.G593R	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			9	2129	-			593					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.1777G>A	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.63|15.63	2.890423|2.890423	0.52014|0.52014	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000441143	T;T;T;D|T	0.85484|0.43688	0.9;0.9;0.9;-1.99|0.94	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.36167|.	U|.	0.002759|.	T|T	0.49712|0.49712	0.1573|0.1573	L|L	0.60455|0.60455	1.87|1.87	0.40745|0.40745	D|D	0.982866|0.982866	D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;0.999;0.999|.	D;D;D;D;D|.	0.91635|.	0.999;0.992;0.982;0.982;0.96|.	T|T	0.37686|0.37686	-0.9695|-0.9695	10|7	0.29301|0.02654	T|T	0.29|1	-18.0586|-18.0586	20.3248|20.3248	0.98698|0.98698	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	593;397;591;591;593|.	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8|.	.;.;.;.;BAZ2B_HUMAN|.	R|K	591;593;593;591|24	ENSP00000376533:G591R;ENSP00000376534:G593R;ENSP00000348087:G593R;ENSP00000339670:G591R|ENSP00000393565:R24K	ENSP00000339670:G591R|ENSP00000393565:R24K	G|R	-|-	1|2	0|0	BAZ2B|BAZ2B	159997637|159997637	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.114000|5.114000	0.64648|0.64648	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.383	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2				16	82	0	0	0	0.003163	0	16	82		
LY75	4065	broad.mit.edu	37	2	160667045	160667045	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:160667045G>C	ENST00000263636.4	-	32	4718	c.4691C>G	c.(4690-4692)tCa>tGa	p.S1564*	LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.S1564*|LY75_ENST00000554112.1_Nonsense_Mutation_p.S1564*|LY75_ENST00000553424.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.S1564*	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1564	C-type lectin 10. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACCATGTTTTGAACACAATTT	0.338																																						uc002ubc.3		NaN																	0					0						c.(4690-4692)TCA>TGA		lymphocyte antigen 75 precursor							140.0	148.0	146.0					2																	160667045		2203	4300	6503	SO:0001587	stop_gained	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160667045G>C	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4691C>G	2.37:g.160667045G>C	ENSP00000263636:p.Ser1564*					LY75_uc002ubb.3_Nonsense_Mutation_p.S1564*|LY75_uc010fos.2_Nonsense_Mutation_p.S1564*	p.S1564*	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	32	4760	-			1564			Extracellular (Potential).|C-type lectin 10.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Nonsense_Mutation	SNP	ENST00000263636.4	37	c.4691C>G	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	37	6.410282	0.97546	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	.	.	.	4.91	0.506	0.16961	.	1.146100	0.07019	U	0.826519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	3.6309	3.151	0.06488	0.0904:0.125:0.3384:0.4462	.	.	.	.	X	1564	.	ENSP00000423463:S1564X	S	-	2	0	LY75;LY75-CD302	160375291	0.054000	0.20591	0.013000	0.15412	0.112000	0.19704	0.597000	0.24059	0.166000	0.19597	0.491000	0.48974	TCA		0.338	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1				15	129	0	0	0	0.006122	0	15	129		
PLA2R1	22925	broad.mit.edu	37	2	160832638	160832638	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:160832638C>T	ENST00000283243.7	-	17	2742	c.2536G>A	c.(2536-2538)Gat>Aat	p.D846N	PLA2R1_ENST00000392771.1_Missense_Mutation_p.D846N	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	846	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTGAGAAGATCACTGTGCAGC	0.403																																						uc002ube.1		NaN																	0				skin(2)|ovary(1)	3						c.(2536-2538)GAT>AAT		phospholipase A2 receptor 1 isoform 1 precursor							154.0	143.0	147.0					2																	160832638		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160832638C>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2536G>A	2.37:g.160832638C>T	ENSP00000283243:p.Asp846Asn					PLA2R1_uc010zcp.1_Missense_Mutation_p.D846N|PLA2R1_uc002ubf.2_Missense_Mutation_p.D846N	p.D846N	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			17	2743	-			846			Extracellular (Potential).|C-type lectin 5.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.2536G>A	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385895	0.42308	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.08102	3.13;3.13	5.18	3.28	0.37604	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.387826	0.29389	N	0.012295	T	0.07683	0.0193	L	0.37630	1.12	0.37256	D	0.906751	B;B;B	0.20887	0.049;0.035;0.036	B;B;B	0.31337	0.128;0.023;0.025	T	0.18272	-1.0342	10	0.40728	T	0.16	.	5.8832	0.18866	0.0:0.6597:0.1579:0.1824	.	846;846;846	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	N	846	ENSP00000283243:D846N;ENSP00000376524:D846N	ENSP00000283243:D846N	D	-	1	0	PLA2R1	160540884	0.998000	0.40836	0.893000	0.35052	0.755000	0.42902	1.795000	0.38784	1.236000	0.43740	0.561000	0.74099	GAT		0.403	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1				7	61	0	0	0	0.00308	0	7	61		
PLA2R1	22925	broad.mit.edu	37	2	160869838	160869838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:160869838G>A	ENST00000283243.7	-	10	1806	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.R534*	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	534	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCAAAGCTTCGAAGGACTGTG	0.368																																						uc002ube.1		NaN																	0				skin(2)|ovary(1)	3						c.(1600-1602)CGA>TGA		phospholipase A2 receptor 1 isoform 1 precursor							123.0	118.0	120.0					2																	160869838		2203	4300	6503	SO:0001587	stop_gained	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160869838G>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1600C>T	2.37:g.160869838G>A	ENSP00000283243:p.Arg534*					PLA2R1_uc010zcp.1_Nonsense_Mutation_p.R534*|PLA2R1_uc002ubf.2_Nonsense_Mutation_p.R534*	p.R534*	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			10	1807	-			534			Extracellular (Potential).|C-type lectin 3.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Nonsense_Mutation	SNP	ENST00000283243.7	37	c.1600C>T	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	G	40	7.997718	0.98602	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	.	.	.	5.26	1.16	0.20824	.	0.143577	0.48767	D	0.000180	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	15.1192	0.72429	0.0:0.0:0.5175:0.4825	.	.	.	.	X	534	.	ENSP00000283243:R534X	R	-	1	2	PLA2R1	160578084	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	1.083000	0.30815	-0.012000	0.14223	0.650000	0.86243	CGA		0.368	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1				8	49	0	0	0	0.001368	0	8	49		
PLA2R1	22925	broad.mit.edu	37	2	160889477	160889477	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:160889477G>C	ENST00000283243.7	-	4	1040	c.834C>G	c.(832-834)ttC>ttG	p.F278L	PLA2R1_ENST00000392771.1_Missense_Mutation_p.F278L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	278	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TACCCCTTATGAAATTTTCTT	0.358																																						uc002ube.1		NaN																	0				skin(2)|ovary(1)	3						c.(832-834)TTC>TTG		phospholipase A2 receptor 1 isoform 1 precursor							161.0	154.0	156.0					2																	160889477		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160889477G>C	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.834C>G	2.37:g.160889477G>C	ENSP00000283243:p.Phe278Leu					PLA2R1_uc010zcp.1_Missense_Mutation_p.F278L|PLA2R1_uc002ubf.2_Missense_Mutation_p.F278L	p.F278L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			4	1041	-			278			Extracellular (Potential).|C-type lectin 1.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.834C>G	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440723	0.63067	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.24350	1.86;1.86	5.91	0.33	0.15929	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.057088	0.64402	D	0.000001	T	0.40839	0.1133	M	0.79258	2.445	0.28075	N	0.93242	P;D;D	0.63880	0.594;0.981;0.993	B;P;P	0.59703	0.374;0.644;0.862	T	0.29427	-1.0012	10	0.34782	T	0.22	.	9.3465	0.38111	0.5147:0.0:0.4853:0.0	.	278;278;278	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	L	278	ENSP00000283243:F278L;ENSP00000376524:F278L	ENSP00000283243:F278L	F	-	3	2	PLA2R1	160597723	0.998000	0.40836	0.664000	0.29753	0.680000	0.39746	0.358000	0.20216	0.107000	0.17824	-0.142000	0.14014	TTC		0.358	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1				18	123	0	0	0	0.004656	0	18	123		
RBMS1	5937	broad.mit.edu	37	2	161141534	161141534	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:161141534C>T	ENST00000348849.3	-	8	1208	c.778G>A	c.(778-780)Gac>Aac	p.D260N	RBMS1_ENST00000409972.1_Missense_Mutation_p.D224N|RBMS1_ENST00000409289.2_Missense_Mutation_p.D224N|RBMS1_ENST00000392753.3_Missense_Mutation_p.D257N|RBMS1_ENST00000409075.1_Missense_Mutation_p.D224N|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	260					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								GTAGTTGGGTCGTAAGTAAGT	0.368																																						uc002ubo.2		NaN																	0					0						c.(778-780)GAC>AAC		RNA binding motif, single stranded interacting							109.0	107.0	108.0					2																	161141534		2203	4300	6503	SO:0001583	missense	5937				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	g.chr2:161141534C>T	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.778G>A	2.37:g.161141534C>T	ENSP00000294904:p.Asp260Asn					RBMS1_uc002ubj.2_Missense_Mutation_p.D224N|RBMS1_uc002ubk.2_Missense_Mutation_p.D224N|RBMS1_uc002ubl.2_Missense_Mutation_p.D255N|RBMS1_uc002ubn.2_Missense_Mutation_p.D257N|RBMS1_uc002ubi.3_Missense_Mutation_p.D257N|RBMS1_uc002ubm.2_Missense_Mutation_p.D227N|RBMS1_uc002ubp.2_Missense_Mutation_p.D260N|RBMS1_uc010fox.2_Missense_Mutation_p.D260N	p.D260N	NM_016836	NP_058520	P29558	RBMS1_HUMAN			8	1222	-			260					Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	c.778G>A	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438338	0.83885	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	T;T;T;T;T	0.25085	1.82;2.09;2.09;1.84;2.09	5.27	5.27	0.74061	.	0.086527	0.85682	D	0.000000	T	0.54078	0.1836	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.89917	0.993;0.999;0.999;0.999;0.999;1.0	D;D;D;D;P;D	0.76575	0.954;0.954;0.988;0.954;0.887;0.973	T	0.49995	-0.8879	10	0.27785	T	0.31	.	19.246	0.93902	0.0:1.0:0.0:0.0	.	123;260;257;126;224;257	Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	N	260;224;224;257;224	ENSP00000294904:D260N;ENSP00000386347:D224N;ENSP00000386571:D224N;ENSP00000376508:D257N;ENSP00000387280:D224N	ENSP00000294904:D260N	D	-	1	0	RBMS1	160849780	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	7.249000	0.78278	2.597000	0.87782	0.563000	0.77884	GAC		0.368	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4		NM_016836		9	57	0	0	0	0.010729	0	9	57		
FIGN	55137	broad.mit.edu	37	2	164466154	164466154	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:164466154C>T	ENST00000333129.3	-	3	2502	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	730					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AAAGCATTTTCAAAGTCTTGA	0.463																																						uc002uck.1		NaN																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(2188-2190)GAA>AAA		fidgetin							63.0	63.0	63.0					2																	164466154		1905	4137	6042	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466154C>T	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.2188G>A	2.37:g.164466154C>T	ENSP00000333836:p.Glu730Lys						p.E730K	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	2499	-			730					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.2188G>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141228	0.57044	.	.	ENSG00000182263	ENST00000333129	D	0.98717	-5.09	6.02	6.02	0.97574	.	0.050220	0.85682	D	0.000000	D	0.97892	0.9307	L	0.52905	1.665	0.80722	D	1	B	0.33103	0.397	B	0.39185	0.293	D	0.96961	0.9701	10	0.41790	T	0.15	-34.1632	20.5373	0.99239	0.0:1.0:0.0:0.0	.	730	Q5HY92	FIGN_HUMAN	K	730	ENSP00000333836:E730K	ENSP00000333836:E730K	E	-	1	0	FIGN	164174400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.857000	0.98124	0.650000	0.86243	GAA		0.463	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2		NM_018086		6	52	0	0	0	0.001984	0	6	52		
TTC21B	79809	broad.mit.edu	37	2	166797590	166797590	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:166797590C>T	ENST00000243344.7	-	6	794	c.657G>A	c.(655-657)atG>atA	p.M219I	AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	219					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GTTGTAATTTCATTTTCTTAA	0.403																																						uc002udk.2		NaN																	0				ovary(2)|pancreas(2)|breast(1)	5						c.(655-657)ATG>ATA		tetratricopeptide repeat domain 21B							105.0	103.0	104.0					2																	166797590		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166797590C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.657G>A	2.37:g.166797590C>T	ENSP00000243344:p.Met219Ile					TTC21B_uc002udl.2_Missense_Mutation_p.M219I|uc002udm.1_Intron	p.M219I	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			6	790	-			219					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.657G>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190717	0.94923	.	.	ENSG00000123607	ENST00000243344	T	0.51817	0.69	5.38	5.38	0.77491	Tetratricopeptide-like helical (1);	0.036364	0.85682	D	0.000000	T	0.68229	0.2978	M	0.87456	2.885	0.80722	D	1	D;D	0.58970	0.975;0.984	P;P	0.55667	0.781;0.724	T	0.68443	-0.5407	10	0.29301	T	0.29	-16.5449	19.4958	0.95072	0.0:1.0:0.0:0.0	.	219;219	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	I	219	ENSP00000243344:M219I	ENSP00000243344:M219I	M	-	3	0	TTC21B	166505836	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.776000	0.85560	2.681000	0.91329	0.650000	0.86243	ATG		0.403	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1		NM_024753		4	21	0	0	0	0.000602	0	4	21		
HOXD13	3239	broad.mit.edu	37	2	176958257	176958257	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:176958257C>T	ENST00000392539.3	+	1	639	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	213					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TGTCCACTTTCGGCTCCGGGG	0.617			T	NUP98	AML*																																	uc002ukf.1		NaN		Dom	yes		2	2q31-q32	3239	T	homeo box D13			L	NUP98		AML*		0				lung(1)	1						c.(637-639)TTC>TTT		homeobox D13							66.0	64.0	65.0					2																	176958257		2203	4300	6503	SO:0001819	synonymous_variant	3239				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	g.chr2:176958257C>T	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.639C>T	2.37:g.176958257C>T							p.F213F	NM_000523	NP_000514	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	1	726	+			213						Silent	SNP	ENST00000392539.3	37	c.639C>T	CCDS2264.2																																																																																				0.617	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1				10	142	0	0	0	0.001855	0	10	142		
HOXD4	3233	broad.mit.edu	37	2	177016457	177016457	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:177016457G>A	ENST00000306324.3	+	1	508	c.96G>A	c.(94-96)caG>caA	p.Q32Q	MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	32					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TAGGCGAGCAGGGCGCCGACT	0.627																																						uc002uks.2		NaN																	0				pancreas(1)	1						c.(94-96)CAG>CAA		homeobox D4							31.0	35.0	33.0					2																	177016457		2181	4230	6411	SO:0001819	synonymous_variant	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177016457G>A		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.96G>A	2.37:g.177016457G>A							p.Q32Q	NM_014621	NP_055436	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	345	+			32					B2R9R3|Q96AU0	Silent	SNP	ENST00000306324.3	37	c.96G>A	CCDS2269.1																																																																																				0.627	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2				8	71	0	0	0	0.008291	0	8	71		
TTC30A	92104	broad.mit.edu	37	2	178482268	178482268	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:178482268C>G	ENST00000355689.5	-	1	1426	c.1162G>C	c.(1162-1164)Gag>Cag	p.E388Q	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	388					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CGAAGCTGCTCAGTCAGCATC	0.463																																						uc002ulo.2		NaN																	0					0						c.(1162-1164)GAG>CAG		tetratricopeptide repeat domain 30A							197.0	196.0	197.0					2																	178482268		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482268C>G	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1162G>C	2.37:g.178482268C>G	ENSP00000347915:p.Glu388Gln						p.E388Q	NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1427	-			388					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.1162G>C	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397962	0.25205	.	.	ENSG00000197557	ENST00000355689	T	0.21932	1.98	5.91	5.91	0.95273	.	0.088781	0.85682	D	0.000000	T	0.41050	0.1142	M	0.77486	2.375	0.80722	D	1	P	0.43938	0.822	P	0.48738	0.588	T	0.10543	-1.0625	10	0.46703	T	0.11	.	20.3829	0.98937	0.0:1.0:0.0:0.0	.	388	Q86WT1	TT30A_HUMAN	Q	388	ENSP00000347915:E388Q	ENSP00000347915:E388Q	E	-	1	0	TTC30A	178190514	1.000000	0.71417	0.999000	0.59377	0.098000	0.18820	5.399000	0.66314	2.823000	0.97156	0.644000	0.83932	GAG		0.463	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2		NM_152275		18	129	0	0	0	0.008871	0	18	129		
TTC30A	92104	broad.mit.edu	37	2	178482343	178482343	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:178482343C>G	ENST00000355689.5	-	1	1351	c.1087G>C	c.(1087-1089)Gat>Cat	p.D363H	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	363					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			ATCAGGGCATCTAAGAAGTCA	0.473																																						uc002ulo.2		NaN																	0					0						c.(1087-1089)GAT>CAT		tetratricopeptide repeat domain 30A							124.0	129.0	127.0					2																	178482343		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482343C>G	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1087G>C	2.37:g.178482343C>G	ENSP00000347915:p.Asp363His						p.D363H	NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1352	-			363					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.1087G>C	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145689	0.37923	.	.	ENSG00000197557	ENST00000355689	T	0.22945	1.93	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	M	0.90082	3.085	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	T	0.66476	-0.5914	10	0.87932	D	0	.	18.5634	0.91108	0.0:1.0:0.0:0.0	.	363	Q86WT1	TT30A_HUMAN	H	363	ENSP00000347915:D363H	ENSP00000347915:D363H	D	-	1	0	TTC30A	178190589	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	5.368000	0.66133	2.823000	0.97156	0.644000	0.83932	GAT		0.473	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2		NM_152275		16	99	0	0	0	0.006122	0	16	99		
TTN	7273	broad.mit.edu	37	2	179489391	179489391	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:179489391C>T	ENST00000591111.1	-	192	39917	c.39693G>A	c.(39691-39693)ctG>ctA	p.L13231L	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Silent_p.L14872L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.L5932L|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.L5999L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.L5807L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.L12304L|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13231	Ig-like 88.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCACACTCCAGCACTGCAG	0.458																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(36910-36912)CTG>CTA		titin isoform N2-A							75.0	72.0	73.0					2																	179489391		1851	4096	5947	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179489391C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39693G>A	2.37:g.179489391C>T						TTN_uc010zfh.1_Silent_p.L5999L|TTN_uc010zfi.1_Silent_p.L5932L|TTN_uc010zfj.1_Silent_p.L5807L	p.L12304L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		191	37136	-			13231					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.36912G>A																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		3	13	0	0	0	0.004672	0	3	13		
TTN	7273	broad.mit.edu	37	2	179594559	179594559	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:179594559G>C	ENST00000591111.1	-	61	17694	c.17470C>G	c.(17470-17472)Cta>Gta	p.L5824V	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L6141V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L4897V			Q8WZ42	TITIN_HUMAN	titin	12623	Ig-like 39.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCCGTCTAGATACCAAGAC	0.428																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14689-14691)CTA>GTA		titin isoform N2-A							72.0	69.0	70.0					2																	179594559		1887	4121	6008	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594559G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17470C>G	2.37:g.179594559G>C	ENSP00000465570:p.Leu5824Val					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1558V	p.L4897V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		60	14913	-			5824					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.14689C>G		.	.	.	.	.	.	.	.	.	.	G	9.510	1.105440	0.20632	.	.	ENSG00000155657	ENST00000342992	T	0.70282	-0.47	6.17	4.06	0.47325	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70859	0.3272	L	0.39245	1.2	0.80722	D	1	D	0.53312	0.959	P	0.53224	0.721	T	0.74231	-0.3732	9	0.87932	D	0	.	11.8301	0.52290	0.2509:0.0:0.7491:0.0	.	5824	Q8WZ42	TITIN_HUMAN	V	4897	ENSP00000343764:L4897V	ENSP00000343764:L4897V	L	-	1	2	TTN	179302804	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	0.639000	0.24690	1.599000	0.50093	0.655000	0.94253	CTA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		4	27	0	0	0	0.000602	0	4	27		
GTF3C3	9330	broad.mit.edu	37	2	197664281	197664281	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:197664281C>G	ENST00000263956.3	-	1	144	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	GTF3C3_ENST00000409364.3_Missense_Mutation_p.E19Q	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	19					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCGAACTCCTCAAAGGAGATT	0.527																																						uc002uts.2		NaN																	0				ovary(3)|breast(3)|pancreas(1)	7						c.(55-57)GAG>CAG		general transcription factor IIIC, polypeptide							122.0	131.0	128.0					2																	197664281		2203	4300	6503	SO:0001583	missense	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197664281C>G	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.55G>C	2.37:g.197664281C>G	ENSP00000263956:p.Glu19Gln					GTF3C3_uc010zgu.1_Missense_Mutation_p.E19Q|GTF3C3_uc002utu.2_Missense_Mutation_p.E19Q	p.E19Q	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN			1	145	-			19					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	c.55G>C	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549440	0.65311	.	.	ENSG00000119041	ENST00000263956;ENST00000409364	T;T	0.55052	0.66;0.54	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.65217	0.2670	L	0.40543	1.245	0.80722	D	1	D;D	0.71674	0.998;0.993	D;D	0.80764	0.994;0.979	T	0.59521	-0.7439	10	0.32370	T	0.25	-18.7562	18.8783	0.92347	0.0:1.0:0.0:0.0	.	19;19	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	Q	19	ENSP00000263956:E19Q;ENSP00000386465:E19Q	ENSP00000263956:E19Q	E	-	1	0	GTF3C3	197372526	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.261000	0.78400	2.788000	0.95919	0.585000	0.79938	GAG		0.527	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1				13	91	0	0	0	0.012319	0	13	91		
SF3B1	23451	broad.mit.edu	37	2	198263234	198263234	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:198263234C>T	ENST00000335508.6	-	21	3176	c.3085G>A	c.(3085-3087)Gaa>Aaa	p.E1029K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1029					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTACTTTTTCATGTCTGTTC	0.343			Mis		myelodysplastic syndrome																																	uc002uue.2		NaN		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					0				pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(3085-3087)GAA>AAA		splicing factor 3b, subunit 1 isoform 1							168.0	166.0	167.0					2																	198263234		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198263234C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3085G>A	2.37:g.198263234C>T	ENSP00000335321:p.Glu1029Lys						p.E1029K	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		21	3133	-			1029			HEAT 8.		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.3085G>A	CCDS33356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.379908|5.379908	0.95945|0.95945	.|.	.|.	ENSG00000115524|ENSG00000115524	ENST00000335508|ENST00000424674	T|.	0.68025|.	-0.3|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86146|0.86146	0.5863|0.5863	M|M	0.90542|0.90542	3.125|3.125	0.80722|0.80722	D|D	1|1	D|.	0.61080|.	0.989|.	D|.	0.64410|.	0.925|.	D|D	0.87285|0.87285	0.2295|0.2295	10|5	0.59425|.	D|.	0.04|.	.|.	20.3627|20.3627	0.98863|0.98863	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1029|.	O75533|.	SF3B1_HUMAN|.	K|I	1029|44	ENSP00000335321:E1029K|.	ENSP00000335321:E1029K|.	E|M	-|-	1|3	0|0	SF3B1|SF3B1	197971479|197971479	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.776000|7.776000	0.85560|0.85560	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.343	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2				17	94	0	0	0	0.002299	0	17	94		
FZD7	8324	broad.mit.edu	37	2	202900897	202900897	+	Missense_Mutation	SNP	G	G	C	rs372525407		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:202900897G>C	ENST00000286201.1	+	1	1588	c.1527G>C	c.(1525-1527)aaG>aaC	p.K509N	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	509					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						AGACGTGCAAGAGCTATGCCG	0.627											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002uyw.1		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(1525-1527)AAG>AAC		frizzled 7 precursor							55.0	55.0	55.0					2																	202900897		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900897G>C	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1527G>C	2.37:g.202900897G>C	ENSP00000286201:p.Lys509Asn		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.K509N	NM_003507	NP_003498	O75084	FZD7_HUMAN			1	1588	+			509			Extracellular (Potential).		O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.1527G>C	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907700	0.52333	.	.	ENSG00000155760	ENST00000286201	D	0.82344	-1.6	5.72	3.6	0.41247	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.84014	0.5379	L	0.59436	1.845	0.58432	D	0.999996	P	0.41188	0.741	P	0.50708	0.648	D	0.83499	0.0074	10	0.51188	T	0.08	.	9.1949	0.37222	0.2911:0.0:0.7089:0.0	.	509	O75084	FZD7_HUMAN	N	509	ENSP00000286201:K509N	ENSP00000286201:K509N	K	+	3	2	FZD7	202609142	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.418000	0.44662	1.434000	0.47414	-0.140000	0.14226	AAG		0.627	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1		NM_003507		20	125	0	0	0	0.00333	0	20	125		
NBEAL1	65065	broad.mit.edu	37	2	204078320	204078320	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:204078320C>G	ENST00000449802.1	+	54	8260	c.7927C>G	c.(7927-7929)Ctt>Gtt	p.L2643V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2643										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAGCCATATTCTTGTAGGTTT	0.398																																						uc002uzt.3		NaN																	0				ovary(1)|skin(1)	2						c.(7927-7929)CTT>GTT		neurobeachin-like 1 isoform 3							154.0	141.0	145.0					2																	204078320		1891	4118	6009	SO:0001583	missense	65065						binding	g.chr2:204078320C>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7927C>G	2.37:g.204078320C>G	ENSP00000399903:p.Leu2643Val					NBEAL1_uc002uzs.3_Missense_Mutation_p.L1284V|NBEAL1_uc002uzu.2_Missense_Mutation_p.L138V	p.L2643V	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			54	8260	+			2643					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.7927C>G	CCDS46495.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.980349|4.980349	0.92982|0.92982	.|.	.|.	ENSG00000144426|ENSG00000144426	ENST00000434469|ENST00000449802;ENST00000340268;ENST00000414576	.|T;T	.|0.26660	.|5.09;1.72	5.61|5.61	5.61|5.61	0.85477|0.85477	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53546|0.53546	0.1803|0.1803	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.985;0.999;0.998	.|D;D;D	.|0.83275	.|0.918;0.996;0.994	T|T	0.53380|0.53380	-0.8447|-0.8447	5|10	.|0.62326	.|D	.|0.03	.|.	19.6278|19.6278	0.95687|0.95687	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1353;2643;2632	.|D1MPS9;Q6ZS30;C9JGK5	.|.;NBEL1_HUMAN;.	L|V	170|2643;2553;658	.|ENSP00000399903:L2643V;ENSP00000388466:L658V	.|ENSP00000344985:L2553V	F|L	+|+	3|1	2|0	NBEAL1|NBEAL1	203786565|203786565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.474000|7.474000	0.81024|0.81024	2.629000|2.629000	0.89072|0.89072	0.650000|0.650000	0.86243|0.86243	TTC|CTT		0.398	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4				30	115	0	0	0	0.00874	0	30	115		
INO80D	54891	broad.mit.edu	37	2	206870253	206870253	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:206870253C>G	ENST00000403263.1	-	11	2327	c.1923G>C	c.(1921-1923)aaG>aaC	p.K641N	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	641					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GGTCTCCATTCTTCCCTGAGT	0.443																																						uc002vaz.3		NaN																	0				ovary(1)	1						c.(1921-1923)AAG>AAC		INO80 complex subunit D							42.0	39.0	40.0					2																	206870253		1926	4128	6054	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206870253C>G		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1923G>C	2.37:g.206870253C>G	ENSP00000384198:p.Lys641Asn						p.K641N	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			11	2328	-			641					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.1923G>C	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855905	0.51376	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.52057	0.68	5.8	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	L	0.59436	1.845	0.53688	D	0.999974	D	0.76494	0.999	D	0.83275	0.996	T	0.62421	-0.6858	10	0.62326	D	0.03	.	6.8212	0.23859	0.0:0.7089:0.0:0.2911	.	641	Q53TQ3-2	.	N	641	ENSP00000384198:K641N	ENSP00000233270:K641N	K	-	3	2	INO80D	206578498	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.761000	0.47589	1.455000	0.47813	0.579000	0.79373	AAG		0.443	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1		NM_017759		4	21	0	0	0	0.009096	0	4	21		
SMARCAL1	50485	broad.mit.edu	37	2	217300156	217300156	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:217300156C>T	ENST00000357276.4	+	9	1911	c.1581C>T	c.(1579-1581)gtC>gtT	p.V527V	SMARCAL1_ENST00000358207.5_Silent_p.V527V	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	527	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TCAACATTGTCAGCTTTGACC	0.463									Schimke Immuno-Osseous Dysplasia																													uc002vgc.3		NaN																	0				ovary(3)|breast(3)|skin(1)	7						c.(1579-1581)GTC>GTT		SWI/SNF-related matrix-associated							120.0	113.0	115.0					2																	217300156		2203	4300	6503	SO:0001819	synonymous_variant	50485	Schimke_Immuno-Osseous_Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217300156C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1581C>T	2.37:g.217300156C>T						SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Silent_p.V527V|SMARCAL1_uc010fvg.2_Silent_p.V527V	p.V527V	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	9	1911	+		Renal(323;0.0458)	527			Helicase ATP-binding.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	c.1581C>T	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	9.735	1.163236	0.21538	.	.	ENSG00000138375	ENST00000445153	.	.	.	5.84	3.73	0.42828	.	.	.	.	.	T	0.60157	0.2247	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57946	-0.7723	4	.	.	.	-25.2334	10.1086	0.42548	0.0:0.765:0.0:0.235	.	.	.	.	L	85	.	.	S	+	2	0	SMARCAL1	217008401	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.610000	0.36869	1.484000	0.48361	0.561000	0.74099	TCA		0.463	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2				6	60	0	0	0	0.001984	0	6	60		
CCDC108	255101	broad.mit.edu	37	2	219896248	219896248	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:219896248C>T	ENST00000341552.5	-	7	861	c.778G>A	c.(778-780)Gat>Aat	p.D260N	CCDC108_ENST00000410037.1_Missense_Mutation_p.D195N|CCDC108_ENST00000441968.1_Missense_Mutation_p.D260N|CCDC108_ENST00000409865.3_Missense_Mutation_p.D249N|CCDC108_ENST00000453220.1_Missense_Mutation_p.D260N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	260						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGTCGTATCTCCCACAGCA	0.627																																						uc002vjl.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(778-780)GAT>AAT		coiled-coil domain containing 108 isoform 1							174.0	176.0	175.0					2																	219896248		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219896248C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.778G>A	2.37:g.219896248C>T	ENSP00000340776:p.Asp260Asn					CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Missense_Mutation_p.D249N|CCDC108_uc010zkq.1_Missense_Mutation_p.D195N	p.D260N	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	862	-		Renal(207;0.0915)	260					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.778G>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340261	0.41398	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.08008	3.44;3.44;3.44;3.14;3.15	5.0	4.11	0.48088	PapD-like (1);	0.000000	0.40818	N	0.001008	T	0.23926	0.0579	M	0.77616	2.38	0.21220	N	0.99975	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.973	T	0.06881	-1.0802	10	0.29301	T	0.29	-21.2359	8.7535	0.34633	0.1515:0.7634:0.0:0.0851	.	249;260	E9PG25;Q6ZU64	.;CC108_HUMAN	N	260;260;260;249;195;194	ENSP00000340776:D260N;ENSP00000413377:D260N;ENSP00000409117:D260N;ENSP00000386945:D249N;ENSP00000386258:D195N	ENSP00000340776:D260N	D	-	1	0	CCDC108	219604492	0.815000	0.29118	0.972000	0.41901	0.013000	0.08279	1.428000	0.34892	1.088000	0.41272	0.650000	0.86243	GAT		0.627	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4		NM_194302		39	328	0	0	0	0.00361	0	39	328		
ALPP	250	broad.mit.edu	37	2	233243989	233243989	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:233243989G>A	ENST00000392027.2	+	3	542	c.273G>A	c.(271-273)ctG>ctA	p.L91L	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	91					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AGATACCCCTGGCCATGGACC	0.552																																						uc002vsq.2		NaN																	0				ovary(1)	1						c.(271-273)CTG>CTA		placental alkaline phosphatase preproprotein							94.0	93.0	94.0					2																	233243989		2203	4300	6503	SO:0001819	synonymous_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233243989G>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.273G>A	2.37:g.233243989G>A						ALPP_uc002vsr.2_5'Flank	p.L91L	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	3	438	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	91					P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	c.273G>A	CCDS2490.1																																																																																				0.552	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3		NM_001632		7	54	0	0	0	0.004482	0	7	54		
GIGYF2	26058	broad.mit.edu	37	2	233599920	233599920	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:233599920A>G	ENST00000409547.1	+	5	324	c.13A>G	c.(13-15)Acg>Gcg	p.T5A	GIGYF2_ENST00000409196.3_Missense_Mutation_p.T5A|GIGYF2_ENST00000373566.3_Missense_Mutation_p.T5A|GIGYF2_ENST00000482666.1_3'UTR|GIGYF2_ENST00000409451.3_Missense_Mutation_p.T5A|GIGYF2_ENST00000373563.4_Missense_Mutation_p.T5A|GIGYF2_ENST00000409480.1_Missense_Mutation_p.T5A	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	5					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGCAGCGGAAACGCAGACACT	0.333																																						uc002vti.3		NaN																	0				ovary(4)|central_nervous_system(3)	7						c.(13-15)ACG>GCG		GRB10 interacting GYF protein 2 isoform b							87.0	98.0	94.0					2																	233599920		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233599920A>G	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.13A>G	2.37:g.233599920A>G	ENSP00000386537:p.Thr5Ala					GIGYF2_uc002vte.2_RNA|GIGYF2_uc002vtf.2_RNA|GIGYF2_uc010zmj.1_Missense_Mutation_p.T5A|GIGYF2_uc002vtg.2_Missense_Mutation_p.T5A|GIGYF2_uc002vtj.3_Missense_Mutation_p.T5A|GIGYF2_uc002vtk.3_Missense_Mutation_p.T5A|GIGYF2_uc002vth.3_Missense_Mutation_p.T5A|GIGYF2_uc002vtl.2_RNA|GIGYF2_uc010zmk.1_RNA	p.T5A	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	5	350	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	5					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.13A>G	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.332060	0.60853	.	.	ENSG00000204120	ENST00000427233;ENST00000373566;ENST00000414511;ENST00000373563;ENST00000428883;ENST00000456491;ENST00000409480;ENST00000421433;ENST00000425040;ENST00000430720;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000429187;ENST00000440945	T;T;T;T;T;T;T;T;T;T	0.78481	-0.86;-0.93;-1.18;-0.86;-1.17;-0.93;-1.06;-0.95;-0.87;-1.06	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.68220	0.2977	L	0.44542	1.39	0.80722	D	1	B;P;B	0.38767	0.22;0.646;0.022	B;B;B	0.31101	0.057;0.124;0.038	T	0.73436	-0.3983	10	0.87932	D	0	-5.7228	13.0693	0.59050	1.0:0.0:0.0:0.0	.	5;5;5	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	A	5	ENSP00000362667:T5A;ENSP00000362664:T5A;ENSP00000402712:T5A;ENSP00000386765:T5A;ENSP00000396958:T5A;ENSP00000386537:T5A;ENSP00000404195:T5A;ENSP00000387070:T5A;ENSP00000387170:T5A;ENSP00000410297:T5A	ENSP00000362664:T5A	T	+	1	0	GIGYF2	233308164	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	4.584000	0.60971	2.161000	0.67846	0.533000	0.62120	ACG		0.333	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2		NM_001103146		4	29	0	0	0	0.001984	0	4	29		
MLPH	79083	broad.mit.edu	37	2	238402155	238402155	+	Missense_Mutation	SNP	G	G	A	rs555987643		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:238402155G>A	ENST00000264605.3	+	2	380	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	MLPH_ENST00000445024.2_Missense_Mutation_p.R29Q|MLPH_ENST00000338530.4_Missense_Mutation_p.R29Q|MLPH_ENST00000410032.1_Missense_Mutation_p.R29Q|MLPH_ENST00000409373.1_Missense_Mutation_p.R29Q|MLPH_ENST00000468178.1_3'UTR	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	29	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TTTGACCTCCGAAGGAAAGAA	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		19922	0.0		0.0	False		,,,				2504	0.001					uc002vwt.2		NaN																	0				ovary(1)	1						c.(85-87)CGA>CAA		melanophilin isoform 1							145.0	139.0	141.0					2																	238402155		2203	4300	6503	SO:0001583	missense	79083						metal ion binding	g.chr2:238402155G>A	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.86G>A	2.37:g.238402155G>A	ENSP00000264605:p.Arg29Gln					MLPH_uc002vws.2_Missense_Mutation_p.R29Q|MLPH_uc010fyt.1_Missense_Mutation_p.R29Q|MLPH_uc002vwu.2_Missense_Mutation_p.R29Q|MLPH_uc002vwv.2_Missense_Mutation_p.R29Q	p.R29Q	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	2	313	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	29			RabBD.		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	c.86G>A	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530575	0.85706	.	.	ENSG00000115648	ENST00000422695;ENST00000429898;ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.05	5.05	0.67936	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	M	0.72576	2.205	0.26089	N	0.980983	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.994;1.0	T	0.79638	-0.1720	10	0.49607	T	0.09	-20.846	13.9159	0.63897	0.0:0.0:1.0:0.0	.	29;29;29;29;29	B4DKW7;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5	.;.;.;MELPH_HUMAN;.	Q	29	ENSP00000409170:R29Q;ENSP00000403909:R29Q;ENSP00000386338:R29Q;ENSP00000264605:R29Q;ENSP00000414849:R29Q;ENSP00000341845:R29Q;ENSP00000386780:R29Q	ENSP00000264605:R29Q	R	+	2	0	MLPH	238066894	1.000000	0.71417	0.004000	0.12327	0.814000	0.46013	8.119000	0.89579	2.344000	0.79699	0.579000	0.79373	CGA		0.542	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2		NM_024101		16	99	0	0	0	0.00499	0	16	99		
GPC1	2817	broad.mit.edu	37	2	241398601	241398601	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:241398601C>T	ENST00000264039.2	+	2	569	c.321C>T	c.(319-321)ttC>ttT	p.F107F	AC110619.2_ENST00000404327.3_5'Flank|AC110619.2_ENST00000404891.1_5'Flank	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	107					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)	p.F107F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		TGCGCAGCTTCGATGGTGAGT	0.701																																						uc002vyw.3		NaN																	1	Substitution - coding silent(1)		cervix(1)	breast(1)	1						c.(319-321)TTC>TTT		glypican 1 precursor							22.0	24.0	23.0					2																	241398601		2196	4296	6492	SO:0001819	synonymous_variant	2817				axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr2:241398601C>T	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"""Proteoglycans / Cell Surface : Glypicans"""	4449	protein-coding gene	gene with protein product	"""glypican proteoglycan 1"""	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.321C>T	2.37:g.241398601C>T						PP14571_uc002vyy.1_5'Flank	p.F107F	NM_002081	NP_002072	P35052	GPC1_HUMAN		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	2	542	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	107					B3KTD1|Q53QM4	Silent	SNP	ENST00000264039.2	37	c.321C>T	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.68|10.68	1.417621|1.417621	0.25552|0.25552	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138|ENST00000427506;ENST00000425056	.|.	.|.	.|.	3.14|3.14	-6.0|-6.0	0.02206|0.02206	.|.	.|.	.|.	.|.	.|.	.|T	.|0.46502	.|0.1396	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.45934	.|-0.9227	.|4	.|.	.|.	.|.	-7.9649|-7.9649	6.0284|6.0284	0.19667|0.19667	0.1376:0.1997:0.0:0.6627|0.1376:0.1997:0.0:0.6627	.|.	.|.	.|.	.|.	X|L	147|64;103	.|.	.|.	R|S	+|+	1|2	2|0	GPC1|GPC1	241047274|241047274	0.000000|0.000000	0.05858|0.05858	0.104000|0.104000	0.21259|0.21259	0.286000|0.286000	0.27126|0.27126	-2.800000|-2.800000	0.00761|0.00761	-1.389000|-1.389000	0.02090|0.02090	-0.373000|-0.373000	0.07131|0.07131	CGA|TCG		0.701	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3		NM_002081		7	28	0	0	0	0.004482	0	7	28		
GAL3ST2	64090	broad.mit.edu	37	2	242743447	242743447	+	Missense_Mutation	SNP	C	C	T	rs552171019		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:242743447C>T	ENST00000192314.6	+	4	1194	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	355					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTACAACCTCCGGCCGGGCCT	0.667																																						uc002wcj.1		NaN																	0					0						c.(1063-1065)CGG>TGG		galactose-3-O-sulfotransferase 2							11.0	13.0	13.0					2																	242743447		2186	4273	6459	SO:0001583	missense	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242743447C>T	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.1063C>T	2.37:g.242743447C>T	ENSP00000192314:p.Arg355Trp						p.R355W	NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	4	1194	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	355			Lumenal (Potential).		Q17RK0|Q57Z52	Missense_Mutation	SNP	ENST00000192314.6	37	c.1063C>T	CCDS33427.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601515	0.46423	.	.	ENSG00000154252	ENST00000192314	T	0.16073	2.37	4.47	-8.95	0.00765	.	0.105638	0.39020	N	0.001481	T	0.33962	0.0881	M	0.82823	2.61	0.20307	N	0.999917	D	0.89917	1.0	D	0.74348	0.983	T	0.36456	-0.9747	10	0.87932	D	0	-43.0923	12.7886	0.57520	0.5546:0.3766:0.0688:0.0	.	355	Q9H3Q3	G3ST2_HUMAN	W	355	ENSP00000192314:R355W	ENSP00000192314:R355W	R	+	1	2	GAL3ST2	242392120	0.000000	0.05858	0.032000	0.17829	0.200000	0.23975	-0.032000	0.12266	-1.164000	0.02790	-0.388000	0.06559	CGG		0.667	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1		NM_022134		5	11	0	0	0	0.00308	0	5	11		
SOX12	6666	broad.mit.edu	37	20	306825	306825	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:306825A>T	ENST00000342665.2	+	1	587	c.257A>T	c.(256-258)aAg>aTg	p.K86M	SOX12_ENST00000544632.1_Missense_Mutation_p.K86M|RP5-1103G7.4_ENST00000442637.1_RNA|RP5-1103G7.4_ENST00000414676.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	86					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|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 transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GACTCGGAGAAGATCCCGTTC	0.662																																						uc002wdh.2		NaN																	0					0						c.(256-258)AAG>ATG		SRY (sex determining region Y)-box 12							21.0	22.0	21.0					20																	306825		2201	4291	6492	SO:0001583	missense	6666				cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding	g.chr20:306825A>T	U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"""SRY (sex determining region Y)-boxes"""	11198	protein-coding gene	gene with protein product		601947	"""SRY (sex determining region Y)-box 22"""	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.257A>T	20.37:g.306825A>T	ENSP00000347646:p.Lys86Met						p.K86M	NM_006943	NP_008874	O15370	SOX12_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	587	+		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	86			HMG box.		Q5D038|Q9NUD4	Missense_Mutation	SNP	ENST00000342665.2	37	c.257A>T	CCDS12995.1	.	.	.	.	.	.	.	.	.	.	a	12.22	1.873659	0.33069	.	.	ENSG00000177732	ENST00000544632;ENST00000342665	D;D	0.99519	-6.07;-6.07	3.63	2.52	0.30459	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.206931	0.28026	U	0.016896	D	0.99697	0.9885	H	0.99368	4.535	0.48511	D	0.999669	D	0.89917	1.0	D	0.91635	0.999	D	0.97979	1.0348	10	0.87932	D	0	.	7.4696	0.27340	0.8065:0.0:0.0:0.1935	.	86	O15370	SOX12_HUMAN	M	86	ENSP00000441671:K86M;ENSP00000347646:K86M	ENSP00000347646:K86M	K	+	2	0	SOX12	254825	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	6.428000	0.73383	0.469000	0.27268	-0.829000	0.03081	AAG		0.662	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077435.2		NM_006943		4	37	0	0	0	0.001168	0	4	37		
ANGPT4	51378	broad.mit.edu	37	20	853663	853663	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:853663G>T	ENST00000381922.3	-	9	1554	c.1452C>A	c.(1450-1452)ttC>ttA	p.F484L	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	484	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGGGGCCCTTGAAGTAGTGCC	0.577																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.2		NaN																	0				ovary(2)	2						c.(1450-1452)TTC>TTA		angiopoietin 4 precursor							128.0	113.0	118.0					20																	853663		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:853663G>T	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1452C>A	20.37:g.853663G>T	ENSP00000371347:p.Phe484Leu					ANGPT4_uc010zpn.1_3'UTR	p.F484L	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			9	1555	-			484			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.1452C>A	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158870	0.78226	.	.	ENSG00000101280	ENST00000381922	T	0.76448	-1.02	4.4	3.43	0.39272	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.069380	0.56097	D	0.000023	D	0.85008	0.5599	M	0.74647	2.275	0.80722	D	1	D	0.61080	0.989	P	0.62298	0.9	D	0.86239	0.1642	10	0.72032	D	0.01	.	12.2286	0.54474	0.0:0.3298:0.6702:0.0	.	484	Q9Y264	ANGP4_HUMAN	L	484	ENSP00000371347:F484L	ENSP00000371347:F484L	F	-	3	2	ANGPT4	801663	1.000000	0.71417	0.969000	0.41365	0.788000	0.44548	3.083000	0.50136	1.046000	0.40249	0.491000	0.48974	TTC		0.577	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1		NM_015985		9	99	1	0	5.50884e-06	0.001368	5.7299e-06	9	99		
UBOX5	22888	broad.mit.edu	37	20	3090835	3090835	+	Missense_Mutation	SNP	C	C	T	rs200363247		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:3090835C>T	ENST00000217173.2	-	5	2014	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	UBOX5_ENST00000348031.2_Missense_Mutation_p.E461K|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5-AS1_ENST00000454019.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CGTTGCTTCTCACCCAGGCAG	0.607																																						uc002whw.2		NaN																	0				ovary(1)|skin(1)	2						c.(1543-1545)GAG>AAG		U-box domain containing 5 isoform a							64.0	68.0	67.0					20																	3090835		2203	4300	6503	SO:0001583	missense	22888					nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr20:3090835C>T	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1543G>A	20.37:g.3090835C>T	ENSP00000217173:p.Glu515Lys					uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.E461K|UBOX5_uc002why.1_Silent_p.*513*	p.E515K	NM_014948	NP_055763	O94941	RNF37_HUMAN			5	1713	-			515			RING-type.			Missense_Mutation	SNP	ENST00000217173.2	37	c.1543G>A	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	C	32	5.164771	0.94727	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.67345	-0.26;-0.22	5.04	5.04	0.67666	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.801478	0.11381	U	0.569860	T	0.76758	0.4032	M	0.69823	2.125	0.41050	D	0.985297	D;D	0.57899	0.963;0.981	P;P	0.50825	0.468;0.651	T	0.78821	-0.2053	10	0.66056	D	0.02	-11.2597	18.7495	0.91809	0.0:1.0:0.0:0.0	.	461;515	Q86X87;O94941	.;RNF37_HUMAN	K	515;461	ENSP00000217173:E515K;ENSP00000311726:E461K	ENSP00000217173:E515K	E	-	1	0	UBOX5	3038835	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	4.788000	0.62439	2.497000	0.84241	0.561000	0.74099	GAG		0.607	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2		NM_014948		17	215	0	0	0	0.008871	0	17	215		
CENPB	1059	broad.mit.edu	37	20	3766965	3766965	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:3766965C>G	ENST00000379751.4	-	1	372	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	56					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						TACTTGCGCTCCGACGCCAGG	0.642																																						uc002wjk.2		NaN																	0					0						c.(166-168)GAG>CAG		centromere protein B							69.0	60.0	63.0					20																	3766965		2203	4300	6503	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766965C>G	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.166G>C	20.37:g.3766965C>G	ENSP00000369075:p.Glu56Gln					CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	p.E56Q	NM_001810	NP_001801	P07199	CENPB_HUMAN			1	373	-			56					Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.166G>C	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	c	14.61	2.585723	0.46110	.	.	ENSG00000125817	ENST00000379751	T	0.42900	0.96	3.28	3.28	0.37604	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.34700	U	0.003756	T	0.32376	0.0827	N	0.08118	0	0.26212	N	0.979284	D	0.59767	0.986	P	0.57548	0.823	T	0.08994	-1.0695	10	0.25106	T	0.35	.	8.602	0.33751	0.0:0.7616:0.2384:0.0	.	56	P07199	CENPB_HUMAN	Q	56	ENSP00000369075:E56Q	ENSP00000369075:E56Q	E	-	1	0	CENPB	3714965	1.000000	0.71417	0.978000	0.43139	0.871000	0.50021	1.124000	0.31320	1.403000	0.46800	0.177000	0.17058	GAG		0.642	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2		NM_001810		11	106	0	0	0	0.008291	0	11	106		
MCM8	84515	broad.mit.edu	37	20	5939338	5939338	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:5939338C>G	ENST00000378896.3	+	7	1132	c.755C>G	c.(754-756)cCt>cGt	p.P252R	MCM8_ENST00000378886.2_Missense_Mutation_p.P252R|MCM8_ENST00000265187.4_Missense_Mutation_p.P252R|MCM8_ENST00000378883.1_Missense_Mutation_p.P252R	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	252					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CAGAGCTTTCCTCTTCCAGAT	0.388																																						uc002wmi.2		NaN																	0				skin(1)	1						c.(754-756)CCT>CGT		minichromosome maintenance complex component 8							122.0	110.0	114.0					20																	5939338		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5939338C>G	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.755C>G	20.37:g.5939338C>G	ENSP00000368174:p.Pro252Arg					MCM8_uc002wmj.2_Missense_Mutation_p.P252R|MCM8_uc002wmk.2_Missense_Mutation_p.P252R|MCM8_uc002wml.2_Missense_Mutation_p.P252R|MCM8_uc010gbp.2_Missense_Mutation_p.P252R	p.P252R	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN			7	1132	+			252					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.755C>G	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	7.758	0.704822	0.15172	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.04317	3.65;3.65;3.65;3.65	5.9	5.9	0.94986	Nucleic acid-binding, OB-fold-like (1);	0.449064	0.25490	N	0.030312	T	0.05914	0.0154	L	0.28694	0.88	0.50313	D	0.999865	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.002;0.003;0.001	T	0.48969	-0.8987	10	0.21014	T	0.42	-0.1875	20.2789	0.98501	0.0:1.0:0.0:0.0	.	252;252;252;252	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	R	252	ENSP00000368174:P252R;ENSP00000368161:P252R;ENSP00000368164:P252R;ENSP00000265187:P252R	ENSP00000265187:P252R	P	+	2	0	MCM8	5887338	0.984000	0.35163	0.962000	0.40283	0.910000	0.53928	2.865000	0.48412	2.788000	0.95919	0.650000	0.86243	CCT		0.388	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1		NM_032485		4	33	0	0	0	0.001168	0	4	33		
TMX4	56255	broad.mit.edu	37	20	7962990	7962990	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:7962990C>A	ENST00000246024.2	-	8	1173	c.958G>T	c.(958-960)Ggc>Tgc	p.G320C		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	320	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TCAGAGATGCCTTCTTCAGCC	0.562																																						uc002wmx.1		NaN																	0					0						c.(958-960)GGC>TGC		thioredoxin-related transmembrane protein 4							125.0	113.0	117.0					20																	7962990		2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7962990C>A		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.958G>T	20.37:g.7962990C>A	ENSP00000246024:p.Gly320Cys						p.G320C	NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN			8	1091	-			320			Glu-rich.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.958G>T	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142491	0.37825	.	.	ENSG00000125827	ENST00000246024	T	0.10288	2.89	4.68	1.05	0.20165	.	0.850389	0.10182	N	0.705771	T	0.07908	0.0198	L	0.29908	0.895	0.09310	N	1	B	0.20164	0.042	B	0.23852	0.049	T	0.37888	-0.9686	10	0.72032	D	0.01	-0.0392	3.4709	0.07567	0.0:0.5205:0.2089:0.2707	.	320	Q9H1E5	TMX4_HUMAN	C	320	ENSP00000246024:G320C	ENSP00000246024:G320C	G	-	1	0	TMX4	7910990	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	0.016000	0.13377	0.498000	0.27948	0.557000	0.71058	GGC		0.562	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2		NM_021156		13	80	1	0	2.23348e-06	0.004007	2.33059e-06	13	80		
SEL1L2	80343	broad.mit.edu	37	20	13830926	13830926	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:13830926G>T	ENST00000284951.5	-	19	1932	c.1858C>A	c.(1858-1860)Caa>Aaa	p.Q620K	SEL1L2_ENST00000378072.5_Missense_Mutation_p.Q507K|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	620						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GGACTCGTTTGAGCAGCCATG	0.453																																						uc010gcf.2		NaN																	0				ovary(2)	2						c.(1858-1860)CAA>AAA		sel-1 suppressor of lin-12-like 2 precursor							98.0	99.0	99.0					20																	13830926		1992	4163	6155	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13830926G>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1858C>A	20.37:g.13830926G>T	ENSP00000284951:p.Gln620Lys					SEL1L2_uc002woq.3_Missense_Mutation_p.Q481K|SEL1L2_uc010zrl.1_Missense_Mutation_p.Q507K|SEL1L2_uc002wor.2_RNA	p.Q620K	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			19	1940	-			620			Extracellular (Potential).|Sel1-like 11.		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1858C>A		.	.	.	.	.	.	.	.	.	.	G	16.25	3.071349	0.55646	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.52526	0.79;0.66	5.97	2.83	0.33086	Tetratricopeptide-like helical (1);	0.308376	0.28001	N	0.016990	T	0.23094	0.0558	N	0.04018	-0.295	0.36892	D	0.889967	B;B	0.21381	0.055;0.001	B;B	0.12837	0.007;0.008	T	0.13791	-1.0496	10	0.39692	T	0.17	-5.3938	9.4248	0.38572	0.0:0.4559:0.41:0.134	.	507;620	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	K	507;620	ENSP00000367312:Q507K;ENSP00000284951:Q620K	ENSP00000284951:Q620K	Q	-	1	0	SEL1L2	13778926	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.085000	0.41634	1.496000	0.48567	0.655000	0.94253	CAA		0.453	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3		NM_025229		10	74	1	0	3.07112e-06	0.010729	3.20207e-06	10	74		
KIF16B	55614	broad.mit.edu	37	20	16359787	16359787	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:16359787C>T	ENST00000354981.2	-	19	3017	c.2860G>A	c.(2860-2862)Gaa>Aaa	p.E954K	KIF16B_ENST00000408042.1_Missense_Mutation_p.E954K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E954K|KIF16B_ENST00000378003.2_Missense_Mutation_p.E180K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	954	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCAAGCTGTTCTTCTTTTTCT	0.438																																						uc002wpg.1		NaN																	0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(2860-2862)GAA>AAA		kinesin-like motor protein C20orf23							167.0	161.0	163.0					20																	16359787		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359787C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2860G>A	20.37:g.16359787C>T	ENSP00000347076:p.Glu954Lys					KIF16B_uc002wpe.1_Missense_Mutation_p.E336K|KIF16B_uc002wpf.1_Missense_Mutation_p.E336K|KIF16B_uc010gch.1_Missense_Mutation_p.E954K|KIF16B_uc010gci.1_Missense_Mutation_p.E954K|KIF16B_uc010gcj.1_Missense_Mutation_p.E965K	p.E954K	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			19	3018	-			954			Glu-rich.|Potential.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2860G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172966	0.57584	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.49	4.53	0.55603	.	0.050562	0.85682	D	0.000000	T	0.21427	0.0516	L	0.58101	1.795	0.47276	D	0.999376	B;B;B;B	0.21309	0.011;0.047;0.054;0.015	B;B;B;B	0.28465	0.009;0.09;0.057;0.017	T	0.02437	-1.1159	10	0.30854	T	0.27	.	15.1227	0.72457	0.1428:0.8572:0.0:0.0	.	954;954;954;954	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	K	954;954;798;180;954	ENSP00000347076:E954K;ENSP00000347995:E954K;ENSP00000367242:E180K;ENSP00000384164:E954K	ENSP00000347076:E954K	E	-	1	0	KIF16B	16307787	1.000000	0.71417	0.995000	0.50966	0.621000	0.37620	6.006000	0.70724	1.281000	0.44480	0.563000	0.77884	GAA		0.438	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2		NM_017683		6	80	0	0	0	0.004482	0	6	80		
KIF16B	55614	broad.mit.edu	37	20	16359856	16359856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:16359856G>A	ENST00000354981.2	-	19	2948	c.2791C>T	c.(2791-2793)Ctt>Ttt	p.L931F	KIF16B_ENST00000408042.1_Missense_Mutation_p.L931F|KIF16B_ENST00000355755.3_Missense_Mutation_p.L931F|KIF16B_ENST00000378003.2_Missense_Mutation_p.L157F	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	931	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCTCTGTCAAGAATTTCAAAT	0.433																																						uc002wpg.1		NaN																	0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(2791-2793)CTT>TTT		kinesin-like motor protein C20orf23							116.0	109.0	111.0					20																	16359856		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359856G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2791C>T	20.37:g.16359856G>A	ENSP00000347076:p.Leu931Phe					KIF16B_uc002wpe.1_Missense_Mutation_p.L313F|KIF16B_uc002wpf.1_Missense_Mutation_p.L313F|KIF16B_uc010gch.1_Missense_Mutation_p.L931F|KIF16B_uc010gci.1_Missense_Mutation_p.L931F|KIF16B_uc010gcj.1_Missense_Mutation_p.L942F	p.L931F	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			19	2949	-			931			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2791C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832092	0.50845	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.42585	0.1209	L	0.59436	1.845	0.48087	D	0.999588	D;D;D;D	0.63880	0.973;0.993;0.979;0.964	P;P;P;P	0.62382	0.656;0.901;0.744;0.536	T	0.25847	-1.0120	10	0.66056	D	0.02	.	18.592	0.91217	0.0:0.0:1.0:0.0	.	931;931;931;931	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	F	931;931;775;157;931	ENSP00000347076:L931F;ENSP00000347995:L931F;ENSP00000367242:L157F;ENSP00000384164:L931F	ENSP00000347076:L931F	L	-	1	0	KIF16B	16307856	1.000000	0.71417	0.867000	0.34043	0.009000	0.06853	5.543000	0.67225	2.504000	0.84457	0.563000	0.77884	CTT		0.433	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2		NM_017683		4	58	0	0	0	0.009096	0	4	58		
CSRP2BP	57325	broad.mit.edu	37	20	18167964	18167964	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:18167964C>T	ENST00000435364.3	+	10	2551	c.2210C>T	c.(2209-2211)tCa>tTa	p.S737L	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.S736L|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.S609L	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	737	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CTTCACGTCTCAGCAAGCAAC	0.403																																						uc002wqj.2		NaN																	0				lung(3)|ovary(2)|skin(1)	6						c.(2209-2211)TCA>TTA		CSRP2 binding protein							127.0	131.0	130.0					20																	18167964		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18167964C>T	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.2210C>T	20.37:g.18167964C>T	ENSP00000392318:p.Ser737Leu					CSRP2BP_uc002wqk.2_Missense_Mutation_p.S609L|CSRP2BP_uc010zru.1_Missense_Mutation_p.S608L	p.S737L	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN			11	2832	+			737			N-acetyltransferase.		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.2210C>T	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298470	0.95574	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.67	5.67	0.87782	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	N	0.13299	0.325	0.80722	D	1	P;P	0.46512	0.853;0.879	P;P	0.50378	0.506;0.639	T	0.45366	-0.9266	10	0.87932	D	0	-26.056	19.774	0.96385	0.0:1.0:0.0:0.0	.	609;737	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	L	737;736;737;609	ENSP00000278816:S737L;ENSP00000366909:S736L;ENSP00000392318:S737L;ENSP00000425909:S609L	ENSP00000278816:S737L	S	+	2	0	CSRP2BP	18115964	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.729000	0.84864	2.679000	0.91253	0.591000	0.81541	TCA		0.403	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5		NM_020536		14	134	0	0	0	0.006122	0	14	134		
RALGAPA2	57186	broad.mit.edu	37	20	20621418	20621418	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:20621418G>A	ENST00000202677.7	-	6	484	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	159					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGACTGCTGGGAAACCAGGCA	0.498																																						uc002wrz.2		NaN																	0				ovary(1)	1						c.(475-477)TTC>TTT		akt substrate AS250							93.0	92.0	92.0					20																	20621418		1924	4136	6060	SO:0001819	synonymous_variant	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20621418G>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.477C>T	20.37:g.20621418G>A						RALGAPA2_uc010zsg.1_5'UTR	p.F159F	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			6	620	-			159					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Silent	SNP	ENST00000202677.7	37	c.477C>T	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	8.905	0.957272	0.18507	.	.	ENSG00000188559	ENST00000432524	.	.	.	5.62	3.48	0.39840	.	.	.	.	.	T	0.47838	0.1467	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42258	-0.9462	4	.	.	.	.	4.1756	0.10349	0.4652:0.0:0.5348:0.0	.	.	.	.	S	11	.	.	P	-	1	0	RALGAPA2	20569418	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	2.393000	0.44442	1.396000	0.46663	0.591000	0.81541	CCC		0.498	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1		NM_020343		7	58	0	0	0	0.004482	0	7	58		
XRN2	22803	broad.mit.edu	37	20	21309207	21309207	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:21309207C>G	ENST00000377191.3	+	4	421	c.326C>G	c.(325-327)gCt>gGt	p.A109G	XRN2_ENST00000539513.1_Missense_Mutation_p.A55G|XRN2_ENST00000430571.2_Missense_Mutation_p.A33G	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	109				A -> V (in Ref. 1; AAD55138/AAQ13577). {ECO:0000305}.	cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GCACCACGTGCTAAAATGAAC	0.383																																						uc002wsf.1		NaN																	0				skin(1)	1						c.(325-327)GCT>GGT		5'-3' exoribonuclease 2							82.0	79.0	80.0					20																	21309207		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21309207C>G	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.326C>G	20.37:g.21309207C>G	ENSP00000366396:p.Ala109Gly					XRN2_uc002wsg.1_Missense_Mutation_p.A33G|XRN2_uc010zsk.1_Missense_Mutation_p.A55G	p.A109G	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			4	421	+			109	A -> V (in Ref. 1; AAD55138/AAQ13577).				Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.326C>G	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011477	0.93346	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.60548	0.18;0.33;0.21	5.35	5.35	0.76521	Putative 5-3 exonuclease (1);	0.000000	0.85682	D	0.000000	D	0.82531	0.5057	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86872	0.2036	10	0.87932	D	0	-15.7866	19.0677	0.93119	0.0:1.0:0.0:0.0	.	109	Q9H0D6	XRN2_HUMAN	G	109;33;55	ENSP00000366396:A109G;ENSP00000413548:A33G;ENSP00000441113:A55G	ENSP00000366396:A109G	A	+	2	0	XRN2	21257207	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.270000	0.78493	2.505000	0.84491	0.591000	0.81541	GCT		0.383	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2		NM_012255		3	23	0	0	0	0.004672	0	3	23		
GINS1	9837	broad.mit.edu	37	20	25388508	25388508	+	Missense_Mutation	SNP	G	G	A	rs534317337		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:25388508G>A	ENST00000262460.4	+	1	146	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	GINS1_ENST00000429262.2_Missense_Mutation_p.E18K|GINS1_ENST00000484893.1_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	18					DNA strand elongation involved in DNA replication (GO:0006271)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TCGCGCGCCCGAAGGGCAACT	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		15103	0.001		0.0	False		,,,				2504	0.0					uc002wuv.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(52-54)GAA>AAA		GINS complex subunit 1							32.0	29.0	30.0					20																	25388508		2202	4299	6501	SO:0001583	missense	9837				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr20:25388508G>A	BC012542	CCDS33451.1	20p11.21	2006-05-04			ENSG00000101003	ENSG00000101003			28980	protein-coding gene	gene with protein product		610608				8724849, 8786132	Standard	NM_021067		Approved	KIAA0186, PSF1	uc002wuv.1	Q14691	OTTHUMG00000032124	ENST00000262460.4:c.52G>A	20.37:g.25388508G>A	ENSP00000262460:p.Glu18Lys					GINS1_uc010zte.1_RNA	p.E18K	NM_021067	NP_066545	Q14691	PSF1_HUMAN			1	186	+			18					Q9NQE2|Q9NQI7	Missense_Mutation	SNP	ENST00000262460.4	37	c.52G>A	CCDS33451.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838238	0.71373	.	.	ENSG00000101003	ENST00000262460;ENST00000429262	T;T	0.41065	1.01;1.01	4.02	4.02	0.46733	.	0.108346	0.64402	D	0.000013	T	0.17280	0.0415	N	0.05230	-0.09	0.43304	D	0.995303	P	0.37122	0.583	B	0.23275	0.045	T	0.14117	-1.0484	10	0.10377	T	0.69	-10.0936	15.4342	0.75133	0.0:0.0:1.0:0.0	.	18	Q14691	PSF1_HUMAN	K	18	ENSP00000262460:E18K;ENSP00000408669:E18K	ENSP00000262460:E18K	E	+	1	0	GINS1	25336508	1.000000	0.71417	0.812000	0.32479	0.764000	0.43329	6.113000	0.71553	2.228000	0.72767	0.563000	0.77884	GAA		0.687	GINS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078433.1		NM_021067		9	53	0	0	0	0.00245	0	9	53		
XKR7	343702	broad.mit.edu	37	20	30585240	30585240	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:30585240G>A	ENST00000562532.2	+	3	1894	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	574						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGAGCTGCTGGAGTATGAGAC	0.617																																						uc002wxe.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(1720-1722)GAG>AAG		XK, Kell blood group complex subunit-related							37.0	39.0	38.0					20																	30585240		2202	4297	6499	SO:0001583	missense	343702					integral to membrane		g.chr20:30585240G>A	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1720G>A	20.37:g.30585240G>A	ENSP00000477059:p.Glu574Lys						p.E574K	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1894	+			574					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.1720G>A	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798164	0.90538	.	.	ENSG00000101321	ENST00000217299	.	.	.	5.0	5.0	0.66597	.	0.121096	0.56097	D	0.000033	T	0.77916	0.4202	M	0.67397	2.05	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.79938	-0.1592	9	0.72032	D	0.01	0.7442	17.0243	0.86441	0.0:0.0:1.0:0.0	.	574	Q5GH72	XKR7_HUMAN	K	574	.	ENSP00000217299:E574K	E	+	1	0	XKR7	30048901	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.227000	0.51262	2.599000	0.87857	0.561000	0.74099	GAG		0.617	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3		NM_001011718		9	90	0	0	0	0.006214	0	9	90		
HCK	3055	broad.mit.edu	37	20	30681792	30681792	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:30681792G>A	ENST00000520553.1	+	11	1402	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	HCK_ENST00000538448.1_Missense_Mutation_p.E386K|HCK_ENST00000534862.1_Missense_Mutation_p.E387K|HCK_ENST00000518730.1_Missense_Mutation_p.E385K|HCK_ENST00000375852.2_Missense_Mutation_p.E407K|HCK_ENST00000375862.2_Missense_Mutation_p.E406K	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CCGGGTCATTGAGGACAACGA	0.552																																						uc002wxh.2		NaN																	0				lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(1219-1221)GAG>AAG		hemopoietic cell kinase isoform p61HCK							168.0	135.0	146.0					20																	30681792		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30681792G>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1156G>A	20.37:g.30681792G>A	ENSP00000429848:p.Glu386Lys					HCK_uc010gdy.2_Missense_Mutation_p.E386K|HCK_uc002wxi.2_Missense_Mutation_p.E385K	p.E407K	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		11	1390	+			407			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.1219G>A	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418817	0.83559	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.05	5.05	0.67936	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	N	0.11154	0.105	0.80722	D	1	B;B	0.25169	0.036;0.119	B;B	0.31016	0.044;0.123	T	0.68911	-0.5284	10	0.36615	T	0.2	.	17.5868	0.87983	0.0:0.0:1.0:0.0	.	385;407	P08631-3;P08631	.;HCK_HUMAN	K	387;386;406;386;385;407	ENSP00000444986:E387K;ENSP00000441169:E386K;ENSP00000365022:E406K;ENSP00000429848:E386K;ENSP00000427757:E385K;ENSP00000365012:E407K	ENSP00000365012:E407K	E	+	1	0	HCK	30145453	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	9.555000	0.98123	2.632000	0.89209	0.542000	0.68232	GAG		0.552	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1				17	213	0	0	0	0.012319	0	17	213		
ASXL1	171023	broad.mit.edu	37	20	31021257	31021257	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:31021257G>A	ENST00000375687.4	+	12	1680	c.1256G>A	c.(1255-1257)aGa>aAa	p.R419K	ASXL1_ENST00000306058.5_Missense_Mutation_p.R414K	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	419	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTCCGAACCAGAGCCAGAAGG	0.517			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NaN		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		0				haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1255-1257)AGA>AAA		additional sex combs like 1 isoform 1							87.0	88.0	88.0					20																	31021257		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021257G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1256G>A	20.37:g.31021257G>A	ENSP00000364839:p.Arg419Lys					ASXL1_uc010geb.2_Missense_Mutation_p.R310K	p.R419K	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			11	1682	+			419					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.1256G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049096	0.75846	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.16743	2.32;2.32	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	M	0.67953	2.075	0.46499	D	0.999077	D;P	0.58620	0.983;0.94	D;P	0.63381	0.914;0.678	T	0.14200	-1.0481	10	0.05959	T	0.93	-14.5827	17.7288	0.88371	0.0:0.0:1.0:0.0	.	414;419	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	K	419;419;419;358;414	ENSP00000364839:R419K;ENSP00000305119:R414K	ENSP00000305119:R414K	R	+	2	0	ASXL1	30484918	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.030000	0.64128	2.493000	0.84123	0.655000	0.94253	AGA		0.517	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338		10	110	0	0	0	0.010729	0	10	110		
BPIFB3	359710	broad.mit.edu	37	20	31661410	31661410	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:31661410G>A	ENST00000375494.3	+	15	1430	c.1430G>A	c.(1429-1431)tGa>tAa	p.*477*		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	0					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GTGGCATCCTGAGGCTGAGAC	0.532																																						uc002wym.1		NaN																	0				ovary(4)	4						c.(1429-1431)TGA>TAA		antimicrobial peptide RYA3 precursor							223.0	172.0	189.0					20																	31661410		2203	4300	6503	SO:0001819	synonymous_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31661410G>A	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1430G>A	20.37:g.31661410G>A							p.*477*	NM_182658	NP_872599	P59826	LPLC3_HUMAN			15	1430	+			477					Q5TDX7	Silent	SNP	ENST00000375494.3	37	c.1430G>A	CCDS13212.1																																																																																				0.532	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2		NM_182658		16	187	0	0	0	0.008871	0	16	187		
ZNF341	84905	broad.mit.edu	37	20	32354821	32354821	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:32354821C>T	ENST00000375200.1	+	9	1752	c.1387C>T	c.(1387-1389)Cac>Tac	p.H463Y	ZNF341_ENST00000342427.2_Missense_Mutation_p.H456Y	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	463					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCTCAAGTCTCACATGACCCA	0.562																																						uc002wzy.2		NaN																	0				ovary(2)	2						c.(1387-1389)CAC>TAC		zinc finger protein 341							182.0	170.0	174.0					20																	32354821		2203	4300	6503	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32354821C>T	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1387C>T	20.37:g.32354821C>T	ENSP00000364346:p.His463Tyr					ZNF341_uc002wzx.2_Missense_Mutation_p.H456Y|ZNF341_uc010geq.2_Missense_Mutation_p.H373Y|ZNF341_uc010ger.2_RNA	p.H463Y	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN			9	1407	+			463			C2H2-type 4.		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.1387C>T		.	.	.	.	.	.	.	.	.	.	C	27.3	4.819589	0.90873	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	D;D	0.99924	-8.02;-8.02	5.17	5.17	0.71159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99924	0.9965	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.87578	0.998;0.996;0.994	D	0.95798	0.8830	10	0.87932	D	0	-29.2602	19.021	0.92916	0.0:1.0:0.0:0.0	.	404;463;456	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	Y	456;463	ENSP00000344308:H456Y;ENSP00000364346:H463Y	ENSP00000344308:H456Y	H	+	1	0	ZNF341	31818482	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.223000	0.78033	2.584000	0.87258	0.462000	0.41574	CAC		0.562	ZNF341-201	KNOWN	basic	protein_coding	protein_coding					45	444	0	0	0	0.00361	0	45	444		
EDEM2	55741	broad.mit.edu	37	20	33722577	33722577	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:33722577C>G	ENST00000374492.3	-	6	771	c.666G>C	c.(664-666)ttG>ttC	p.L222F	EDEM2_ENST00000374491.3_Missense_Mutation_p.L185F|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000540582.1_Missense_Mutation_p.L181F	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	222					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGAGGCGCATCAAAGCCACTC	0.577																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	uc002xbo.2		NaN																	0					0						c.(664-666)TTG>TTC		ER degradation enhancer, mannosidase alpha-like							84.0	75.0	78.0					20																	33722577		2203	4300	6503	SO:0001583	missense	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33722577C>G	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.666G>C	20.37:g.33722577C>G	ENSP00000363616:p.Leu222Phe					EDEM2_uc010zuv.1_Missense_Mutation_p.L181F|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Missense_Mutation_p.L185F|EDEM2_uc010zut.1_Missense_Mutation_p.L181F|EDEM2_uc002xbp.2_Missense_Mutation_p.L70F|EDEM2_uc002xbn.2_Missense_Mutation_p.L70F|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Intron	p.L222F	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		6	766	-			222					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	c.666G>C	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268796	0.59540	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.71934	-0.61;-0.61;-0.61	5.87	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	L	0.46567	1.45	0.80722	D	1	B;D;D	0.89917	0.091;1.0;1.0	B;D;D	0.78314	0.066;0.984;0.991	T	0.77335	-0.2626	10	0.46703	T	0.11	-12.9156	11.8773	0.52554	0.12:0.509:0.3709:0.0	.	181;185;222	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	F	185;222;181	ENSP00000363615:L185F;ENSP00000363616:L222F;ENSP00000441548:L181F	ENSP00000363615:L185F	L	-	3	2	EDEM2	33186238	0.997000	0.39634	1.000000	0.80357	0.971000	0.66376	0.670000	0.25157	1.610000	0.50200	0.655000	0.94253	TTG		0.577	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2		NM_018217		11	127	0	0	0	0.008291	0	11	127		
FAM83C	128876	broad.mit.edu	37	20	33875386	33875386	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:33875386G>C	ENST00000374408.3	-	4	1292	c.1196C>G	c.(1195-1197)tCa>tGa	p.S399*	FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374450.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	399										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTTAGGGTCTGACAGTTGGCG	0.627																																						uc010zux.1		NaN																	0				ovary(2)	2						c.(1195-1197)TCA>TGA		hypothetical protein LOC128876							108.0	87.0	94.0					20																	33875386		2203	4300	6503	SO:0001587	stop_gained	128876							g.chr20:33875386G>C	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1196C>G	20.37:g.33875386G>C	ENSP00000363529:p.Ser399*					EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	p.S399*	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1314	-			399					Q14D67|Q5JWN6|Q8N276	Nonsense_Mutation	SNP	ENST00000374408.3	37	c.1196C>G	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872337	0.72180	.	.	ENSG00000125998	ENST00000374408	.	.	.	5.05	5.05	0.67936	.	0.220211	0.23298	N	0.049717	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-21.7362	14.2627	0.66094	0.0:0.0:1.0:0.0	.	.	.	.	X	399	.	ENSP00000363529:S399X	S	-	2	0	FAM83C	33338800	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	4.744000	0.62118	2.519000	0.84933	0.561000	0.74099	TCA		0.627	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3				4	50	0	0	0	0.000602	0	4	50		
SPAG4	6676	broad.mit.edu	37	20	34203963	34203963	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:34203963C>G	ENST00000374273.3	+	1	150	c.38C>G	c.(37-39)tCg>tGg	p.S13W		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	13					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GCCTCGTCCTCGCGCAAGCAC	0.677																																						uc002xdb.1		NaN																	0					0						c.(37-39)TCG>TGG		sperm associated antigen 4							23.0	25.0	24.0					20																	34203963		2197	4287	6484	SO:0001583	missense	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34203963C>G	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.38C>G	20.37:g.34203963C>G	ENSP00000363391:p.Ser13Trp					SPAG4_uc010zvi.1_5'UTR	p.S13W	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		1	155	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		13					O43648	Missense_Mutation	SNP	ENST00000374273.3	37	c.38C>G	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387864	0.42308	.	.	ENSG00000061656	ENST00000374273	T	0.20738	2.05	4.72	2.75	0.32379	.	0.561778	0.17050	N	0.188950	T	0.10551	0.0258	N	0.14661	0.345	0.30747	N	0.745492	P	0.46987	0.888	B	0.34590	0.186	T	0.06215	-1.0839	10	0.87932	D	0	-20.4069	10.1948	0.43047	0.3121:0.6879:0.0:0.0	.	13	Q9NPE6	SPAG4_HUMAN	W	13	ENSP00000363391:S13W	ENSP00000363391:S13W	S	+	2	0	SPAG4	33667377	0.098000	0.21812	0.417000	0.26559	0.706000	0.40770	1.248000	0.32827	0.586000	0.29626	0.561000	0.74099	TCG		0.677	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1		NM_003116		9	85	0	0	0	0.010729	0	9	85		
CPNE1	8904	broad.mit.edu	37	20	34220496	34220496	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:34220496C>A	ENST00000317619.3	-	5	646	c.252G>T	c.(250-252)aaG>aaT	p.K84N	CPNE1_ENST00000352393.4_Missense_Mutation_p.K84N|CPNE1_ENST00000317677.5_Missense_Mutation_p.K89N|RP1-309K20.6_ENST00000541176.2_3'UTR|CPNE1_ENST00000397446.1_Missense_Mutation_p.K84N|CPNE1_ENST00000397443.1_Missense_Mutation_p.K84N|CPNE1_ENST00000397445.1_Missense_Mutation_p.K84N|CPNE1_ENST00000397442.1_Missense_Mutation_p.K84N			Q99829	CPNE1_HUMAN	copine I	84	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GCTCTGGCGTCTTGTTGTCTA	0.512																																						uc002xdf.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(250-252)AAG>AAT		copine I isoform a							182.0	158.0	166.0					20																	34220496		2203	4300	6503	SO:0001583	missense	8904				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	g.chr20:34220496C>A	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.252G>T	20.37:g.34220496C>A	ENSP00000326126:p.Lys84Asn					CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Missense_Mutation_p.K89N|CPNE1_uc002xde.2_Missense_Mutation_p.K84N|CPNE1_uc002xdg.2_Missense_Mutation_p.K84N|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.K84N|CPNE1_uc002xdi.2_Missense_Mutation_p.K84N|CPNE1_uc002xdj.2_Missense_Mutation_p.K84N|CPNE1_uc002xdk.2_Missense_Mutation_p.K84N|CPNE1_uc002xdl.2_Missense_Mutation_p.K84N|CPNE1_uc002xdm.2_Missense_Mutation_p.K84N|CPNE1_uc010gfk.1_Missense_Mutation_p.K84N|CPNE1_uc002xdn.1_RNA|CPNE1_uc002xdo.1_RNA|CPNE1_uc002xdp.1_RNA	p.K84N	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		5	615	-	Lung NSC(9;0.0053)|all_lung(11;0.00785)		84			C2 1.		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	c.252G>T	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922139	0.52653	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570;ENST00000412056;ENST00000414664;ENST00000416778;ENST00000439806;ENST00000420363;ENST00000434795;ENST00000440240;ENST00000458038;ENST00000437100;ENST00000414711	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.26	4.32	0.51571	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.151763	0.41938	U	0.000798	T	0.62258	0.2413	L	0.43598	1.365	0.40380	D	0.979435	B;B;B;B;D	0.55172	0.364;0.364;0.364;0.242;0.97	B;B;B;B;P	0.49953	0.135;0.117;0.168;0.098;0.627	T	0.60692	-0.7213	10	0.30854	T	0.27	-14.2782	8.2208	0.31541	0.0:0.7608:0.0:0.2392	.	89;84;84;84;88	B0QZ18;E7ENH5;A6PVH9;Q99829;Q59EI4	.;.;.;CPNE1_HUMAN;.	N	84;89;84;84;84;84;84;84;84;84;84;84;84;84;84;84;84;84;84	ENSP00000336945:K84N;ENSP00000317257:K89N;ENSP00000326126:K84N;ENSP00000380588:K84N;ENSP00000380587:K84N;ENSP00000380585:K84N;ENSP00000380584:K84N;ENSP00000415597:K84N;ENSP00000390626:K84N;ENSP00000416962:K84N;ENSP00000404355:K84N;ENSP00000389662:K84N;ENSP00000387434:K84N;ENSP00000401915:K84N;ENSP00000409794:K84N;ENSP00000397638:K84N;ENSP00000390141:K84N;ENSP00000391483:K84N;ENSP00000409955:K84N	ENSP00000326126:K84N	K	-	3	2	CPNE1	33683910	0.990000	0.36364	1.000000	0.80357	0.985000	0.73830	0.376000	0.20535	1.440000	0.47531	0.655000	0.94253	AAG		0.512	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3		NM_152930		26	188	1	0	2.47316e-13	0.003271	2.63804e-13	26	188		
PHF20	51230	broad.mit.edu	37	20	34459608	34459608	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:34459608C>T	ENST00000374012.3	+	9	1268	c.1139C>T	c.(1138-1140)tCa>tTa	p.S380L	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	380					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GGCCAGGTCTCATCTGCACTG	0.458																																						uc002xek.1		NaN																	0				ovary(1)	1						c.(1138-1140)TCA>TTA		PHD finger protein 20							113.0	114.0	114.0					20																	34459608		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34459608C>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1139C>T	20.37:g.34459608C>T	ENSP00000363124:p.Ser380Leu					PHF20_uc002xei.1_Missense_Mutation_p.S380L|PHF20_uc010gfo.1_Missense_Mutation_p.S380L|PHF20_uc002xej.1_Missense_Mutation_p.S264L	p.S380L	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			9	1250	+	Breast(12;0.00631)|all_lung(11;0.0145)		380					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.1139C>T	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906060	0.52333	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.43688	1.54;0.94;0.94	5.62	5.62	0.85841	.	0.418525	0.26485	N	0.024118	T	0.57946	0.2088	L	0.46157	1.445	0.80722	D	1	B;D	0.71674	0.437;0.998	B;D	0.76071	0.14;0.987	T	0.57318	-0.7832	10	0.59425	D	0.04	.	15.156	0.72743	0.0:1.0:0.0:0.0	.	380;380	Q9BVI0;Q66K49	PHF20_HUMAN;.	L	380	ENSP00000363124:S380L;ENSP00000341900:S380L;ENSP00000363112:S380L	ENSP00000341900:S380L	S	+	2	0	PHF20	33923022	0.997000	0.39634	1.000000	0.80357	0.975000	0.68041	2.309000	0.43699	2.652000	0.90054	0.591000	0.81541	TCA		0.458	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2		NM_016436		31	209	0	0	0	0.00623	0	31	209		
RPRD1B	58490	broad.mit.edu	37	20	36662405	36662405	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:36662405C>G	ENST00000373433.4	+	1	458	c.56C>G	c.(55-57)tCt>tGt	p.S19C	TTI1_ENST00000373448.2_5'Flank|TTI1_ENST00000373447.3_5'Flank	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	19	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CTGAGCAACTCTCAGCAGAGC	0.657																																						uc002xho.3		NaN																	0				pancreas(1)	1						c.(55-57)TCT>TGT		Regulation of nuclear pre-mRNA domain containing							86.0	74.0	78.0					20																	36662405		2203	4300	6503	SO:0001583	missense	58490							g.chr20:36662405C>G	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.56C>G	20.37:g.36662405C>G	ENSP00000362532:p.Ser19Cys					KIAA0406_uc002xhl.2_5'Flank|KIAA0406_uc002xhm.2_5'Flank	p.S19C	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN			1	458	+			19			CID.		Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	c.56C>G	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155160	0.94686	.	.	ENSG00000101413	ENST00000373433	T	0.55760	0.5	5.27	5.27	0.74061	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.052757	0.85682	D	0.000000	T	0.79263	0.4416	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.84217	0.0459	10	0.87932	D	0	-8.4377	17.6394	0.88131	0.0:1.0:0.0:0.0	.	19	Q9NQG5	RPR1B_HUMAN	C	19	ENSP00000362532:S19C	ENSP00000362532:S19C	S	+	2	0	RPRD1B	36095819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.427000	0.80284	2.735000	0.93741	0.655000	0.94253	TCT		0.657	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2		NM_021215		25	160	0	0	0	0.003954	0	25	160		
SLC32A1	140679	broad.mit.edu	37	20	37353686	37353686	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:37353686G>A	ENST00000217420.1	+	1	582	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	107					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGGTGGTGGCGAATTCGGGGG	0.652																																						uc002xjc.2		NaN																	0					0						c.(319-321)GAA>AAA		solute carrier family 32, member 1	Glycine(DB00145)						40.0	43.0	42.0					20																	37353686		2154	4239	6393	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37353686G>A	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.319G>A	20.37:g.37353686G>A	ENSP00000217420:p.Glu107Lys						p.E107K	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			1	582	+		Myeloproliferative disorder(115;0.00878)	107			Cytoplasmic (Potential).		Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.319G>A	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	9.789	1.177330	0.21787	.	.	ENSG00000101438	ENST00000217420	T	0.07216	3.21	4.25	3.19	0.36642	.	0.119944	0.56097	D	0.000036	T	0.03477	0.0100	N	0.08118	0	0.40102	D	0.97638	B	0.25743	0.133	B	0.13407	0.009	T	0.46693	-0.9173	10	0.25751	T	0.34	-22.3295	6.6779	0.23103	0.0:0.1937:0.6068:0.1995	.	107	Q9H598	VIAAT_HUMAN	K	107	ENSP00000217420:E107K	ENSP00000217420:E107K	E	+	1	0	SLC32A1	36787100	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	7.327000	0.79147	2.300000	0.77407	0.561000	0.74099	GAA		0.652	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1		NM_080552		18	185	0	0	0	0.004656	0	18	185		
CHD6	84181	broad.mit.edu	37	20	40079711	40079711	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:40079711C>T	ENST00000373233.3	-	23	3735	c.3558G>A	c.(3556-3558)ggG>ggA	p.G1186G	CHD6_ENST00000309279.7_Silent_p.G669G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1186					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCGTCTTCTTCCCCTTCCTCC	0.517																																						uc002xka.1		NaN																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(3556-3558)GGG>GGA		chromodomain helicase DNA binding protein 6							162.0	133.0	143.0					20																	40079711		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40079711C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3558G>A	20.37:g.40079711C>T							p.G1186G	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			23	3736	-		Myeloproliferative disorder(115;0.00425)	1186					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.3558G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.291836	0.23564	.	.	ENSG00000124177	ENST00000440697	D	0.85556	-2.0	5.78	1.21	0.21127	.	0.000000	0.64402	D	0.000009	D	0.87047	0.6080	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.85367	0.1111	7	0.87932	D	0	-22.605	8.581	0.33628	0.0:0.4883:0.0:0.5117	.	.	.	.	E	372	ENSP00000404637:G372E	ENSP00000404637:G372E	G	-	2	0	CHD6	39513125	0.754000	0.28360	1.000000	0.80357	0.983000	0.72400	-0.133000	0.10451	0.357000	0.24183	0.650000	0.86243	GGA		0.517	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1				15	136	0	0	0	0.00499	0	15	136		
TTPAL	79183	broad.mit.edu	37	20	43113071	43113071	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:43113071G>A	ENST00000372904.3	+	4	683	c.540G>A	c.(538-540)gtG>gtA	p.V180V	TTPAL_ENST00000372906.2_Intron|TTPAL_ENST00000262605.4_Silent_p.V180V	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	180	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AAACCCAGGTGAATGGAATTG	0.403																																						uc002xmc.1		NaN																	0				breast(1)	1						c.(538-540)GTG>GTA		tocopherol (alpha) transfer protein-like							111.0	102.0	105.0					20																	43113071		2203	4300	6503	SO:0001819	synonymous_variant	79183					intracellular	transporter activity	g.chr20:43113071G>A	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.540G>A	20.37:g.43113071G>A						TTPAL_uc002xmd.1_Silent_p.V180V|TTPAL_uc010ggr.1_Intron	p.V180V	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN			4	664	+			180			CRAL-TRIO.		E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Silent	SNP	ENST00000372904.3	37	c.540G>A	CCDS13332.2																																																																																				0.403	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2		NM_024331		6	89	0	0	0	0.001984	0	6	89		
SERINC3	10955	broad.mit.edu	37	20	43132467	43132467	+	Silent	SNP	G	G	A	rs199784032		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:43132467G>A	ENST00000342374.4	-	8	1201	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	SERINC3_ENST00000255175.1_Silent_p.L348L|SERINC3_ENST00000541235.1_Silent_p.L293L	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	348					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TAGAATACAAGAGGCAGAGAA	0.378																																						uc002xme.2		NaN																	0				skin(3)	3						c.(1042-1044)CTC>CTT		tumor differentially expressed protein 1							87.0	91.0	90.0					20																	43132467		2203	4300	6503	SO:0001819	synonymous_variant	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43132467G>A	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.1044C>T	20.37:g.43132467G>A						SERINC3_uc002xmf.1_Silent_p.L348L|SERINC3_uc010ggs.1_Silent_p.L341L|SERINC3_uc010zwp.1_Silent_p.L293L	p.L348L	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		8	1178	-		Myeloproliferative disorder(115;0.0122)	348			Helical; (Potential).		B4DUE9|O43717|Q9BR33	Silent	SNP	ENST00000342374.4	37	c.1044C>T	CCDS13333.1																																																																																				0.378	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3		NM_006811		4	61	0	0	0	0.001168	0	4	61		
STK4	6789	broad.mit.edu	37	20	43610474	43610474	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:43610474C>T	ENST00000372806.3	+	4	345	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	STK4_ENST00000372801.1_Missense_Mutation_p.H84Y|STK4_ENST00000499879.2_Missense_Mutation_p.H84Y|STK4_ENST00000396731.4_Missense_Mutation_p.H84Y	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	84	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				CTCTAGCCCTCATGTAGTCAA	0.348																																					GBM(187;1039 2137 11798 21916 33213)	uc002xnb.2		NaN																	0				ovary(1)|skin(1)	2						c.(250-252)CAT>TAT		serine/threonine kinase 4							120.0	118.0	119.0					20																	43610474		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43610474C>T		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.250C>T	20.37:g.43610474C>T	ENSP00000361892:p.His84Tyr					STK4_uc010ggx.2_Missense_Mutation_p.H84Y|STK4_uc010ggy.2_Missense_Mutation_p.H84Y|STK4_uc010ggw.1_Missense_Mutation_p.H84Y	p.H84Y	NM_006282	NP_006273	Q13043	STK4_HUMAN			4	340	+		Myeloproliferative disorder(115;0.0122)	84			Protein kinase.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.250C>T	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	C	2.554	-0.303381	0.05495	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.07638	0.0192	N	0.10707	0.03	0.51767	D	0.999934	B;B;B;B	0.10296	0.001;0.001;0.001;0.003	B;B;B;B	0.09377	0.001;0.002;0.003;0.004	T	0.13791	-1.0496	10	0.02654	T	1	.	19.2648	0.93982	0.0:1.0:0.0:0.0	.	84;84;84;84	F5H5B4;Q13043-2;A0PJ51;Q13043	.;.;.;STK4_HUMAN	Y	84	ENSP00000361892:H84Y;ENSP00000379957:H84Y;ENSP00000361887:H84Y;ENSP00000443514:H84Y	ENSP00000361887:H84Y	H	+	1	0	STK4	43043888	0.998000	0.40836	0.989000	0.46669	0.788000	0.44548	1.857000	0.39399	2.554000	0.86153	0.484000	0.47621	CAT		0.348	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4		NM_006282		7	43	0	0	0	0.00308	0	7	43		
MATN4	8785	broad.mit.edu	37	20	43933126	43933126	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:43933126C>T	ENST00000372754.1	-	2	393	c.385G>A	c.(385-387)Gag>Aag	p.E129K	MATN4_ENST00000342716.4_Missense_Mutation_p.E129K|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.E129K|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000360607.6_Missense_Mutation_p.E129K|MATN4_ENST00000353917.5_Missense_Mutation_p.E129K|RBPJL_ENST00000372743.1_5'Flank|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000537548.1_Missense_Mutation_p.E129K			O95460	MATN4_HUMAN	matrilin 4	129	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGCGCGCCCTCGGCCACACTG	0.711																																						uc002xnn.2		NaN																	0					0						c.(385-387)GAG>AAG		matrilin 4 isoform 1 precursor							11.0	10.0	11.0					20																	43933126		2173	4246	6419	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933126C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.385G>A	20.37:g.43933126C>T	ENSP00000361840:p.Glu129Lys					MATN4_uc002xno.2_Missense_Mutation_p.E129K|MATN4_uc002xnp.2_Missense_Mutation_p.E129K|MATN4_uc010zwr.1_Missense_Mutation_p.E77K|MATN4_uc002xnr.1_Missense_Mutation_p.E129K|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	p.E129K	NM_003833	NP_003824	O95460	MATN4_HUMAN			3	572	-		Myeloproliferative disorder(115;0.0122)	129			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.385G>A		.	.	.	.	.	.	.	.	.	.	C	29.2	4.986441	0.93044	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	4.81	4.81	0.61882	.	0.000000	0.44483	D	0.000443	D	0.88160	0.6362	L	0.45470	1.425	0.80722	D	1	D;D;P	0.89917	0.992;1.0;0.866	P;D;P	0.73380	0.727;0.98;0.469	D	0.88829	0.3304	10	0.59425	D	0.04	.	17.0299	0.86458	0.0:1.0:0.0:0.0	.	129;129;129	A6NNA4;O95460-4;O95460-2	.;.;.	K	129	ENSP00000361840:E129K;ENSP00000361842:E129K;ENSP00000243983:E129K;ENSP00000353819:E129K;ENSP00000343164:E129K;ENSP00000440328:E129K	ENSP00000255132:E129K	E	-	1	0	MATN4	43366540	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.667000	0.68067	2.506000	0.84524	0.462000	0.41574	GAG		0.711	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1				4	17	0	0	0	0.000602	0	4	17		
PIGT	51604	broad.mit.edu	37	20	44053141	44053141	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:44053141C>G	ENST00000279036.6	+	11	1486	c.1406C>G	c.(1405-1407)tCt>tGt	p.S469C	PIGT_ENST00000279035.9_Missense_Mutation_p.S367C|PIGT_ENST00000341555.5_Missense_Mutation_p.S275C|PIGT_ENST00000535404.1_Missense_Mutation_p.S314C|PIGT_ENST00000372689.5_Missense_Mutation_p.S402C|PIGT_ENST00000545755.1_Missense_Mutation_p.S207C|PIGT_ENST00000543458.2_Missense_Mutation_p.S413C	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	469					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TGTAGCCCATCTGTCCTCAGC	0.582																																						uc002xoh.1		NaN																	0				pancreas(1)	1						c.(1405-1407)TCT>TGT		phosphatidylinositol glycan anchor biosynthesis,							99.0	91.0	94.0					20																	44053141		2203	4300	6503	SO:0001583	missense	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44053141C>G		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1406C>G	20.37:g.44053141C>G	ENSP00000279036:p.Ser469Cys					PIGT_uc002xoj.1_Missense_Mutation_p.S402C|PIGT_uc002xok.1_Missense_Mutation_p.S434C|PIGT_uc010zwu.1_Missense_Mutation_p.S207C|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Missense_Mutation_p.S207C|PIGT_uc010zww.1_Missense_Mutation_p.S413C|PIGT_uc010zwx.1_Missense_Mutation_p.S304C|PIGT_uc010zwy.1_Missense_Mutation_p.S367C|PIGT_uc010zwz.1_Missense_Mutation_p.S207C|PIGT_uc010zxa.1_Missense_Mutation_p.S307C|PIGT_uc002xol.1_Missense_Mutation_p.S258C|PIGT_uc010zxb.1_Missense_Mutation_p.S145C|PIGT_uc002xom.1_Missense_Mutation_p.S61C	p.S469C	NM_015937	NP_057021	Q969N2	PIGT_HUMAN			11	1479	+		Myeloproliferative disorder(115;0.0122)	469			Lumenal (Potential).		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	c.1406C>G	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806262	0.90623	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000545755;ENST00000341555;ENST00000535404	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.988;0.973;0.971;0.999;0.983;0.997;0.986;0.999;0.983	T	0.66184	-0.5987	10	0.87932	D	0	-15.4443	19.211	0.93755	0.0:1.0:0.0:0.0	.	307;367;314;413;314;258;207;145;469	B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;B7Z1F1;Q969N2-3;B7Z1N3;B7Z4T7;Q969N2	.;.;.;.;.;.;.;.;PIGT_HUMAN	C	413;402;367;469;207;275;314	ENSP00000441577:S413C;ENSP00000361774:S402C;ENSP00000279035:S367C;ENSP00000279036:S469C;ENSP00000443963:S207C;ENSP00000343783:S275C;ENSP00000440528:S314C	ENSP00000279035:S367C	S	+	2	0	PIGT	43486555	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	7.146000	0.77373	2.789000	0.95967	0.655000	0.94253	TCT		0.582	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2		NM_015937		23	136	0	0	0	0.00632	0	23	136		
SLC12A5	57468	broad.mit.edu	37	20	44671954	44671954	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:44671954C>T	ENST00000454036.2	+	9	1347	c.1298C>T	c.(1297-1299)tCa>tTa	p.S433L	SLC12A5_ENST00000243964.3_Missense_Mutation_p.S410L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	433					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TACTTCCCCTCAGTCACAGGT	0.522																																						uc010zxl.1		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1297-1299)TCA>TTA		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						205.0	178.0	187.0					20																	44671954		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44671954C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1298C>T	20.37:g.44671954C>T	ENSP00000387694:p.Ser433Leu					SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.S410L	p.S433L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			9	1374	+		Myeloproliferative disorder(115;0.0122)	433			Helical; (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1298C>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019998	0.93462	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.99014	-5.33;-5.33	4.69	4.69	0.59074	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99017	0.9664	M	0.94021	3.485	0.80722	D	1	P;B	0.40731	0.728;0.242	B;B	0.44163	0.443;0.222	D	0.99929	1.1306	10	0.87932	D	0	.	17.15	0.86775	0.0:1.0:0.0:0.0	.	433;410	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	L	433;410	ENSP00000387694:S433L;ENSP00000243964:S410L	ENSP00000243964:S410L	S	+	2	0	SLC12A5	44105361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.476000	0.81055	2.592000	0.87571	0.555000	0.69702	TCA		0.522	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1				43	385	0	0	0	0.00361	0	43	385		
SLC12A5	57468	broad.mit.edu	37	20	44682304	44682304	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:44682304C>G	ENST00000454036.2	+	20	2753	c.2704C>G	c.(2704-2706)Ctg>Gtg	p.L902V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L879V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	902					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GACCACATTTCTGTATCATTT	0.552																																						uc010zxl.1		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2704-2706)CTG>GTG		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						237.0	196.0	210.0					20																	44682304		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44682304C>G	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2704C>G	20.37:g.44682304C>G	ENSP00000387694:p.Leu902Val					SLC12A5_uc002xrb.2_Missense_Mutation_p.L879V	p.L902V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			20	2780	+		Myeloproliferative disorder(115;0.0122)	902			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2704C>G	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125753	0.56721	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.84730	-1.89;-1.89	4.25	4.25	0.50352	.	0.000000	0.64402	D	0.000004	D	0.84270	0.5435	L	0.59436	1.845	0.80722	D	1	P;P	0.50943	0.789;0.94	B;P	0.44732	0.383;0.459	D	0.85759	0.1348	10	0.46703	T	0.11	.	15.7924	0.78376	0.0:1.0:0.0:0.0	.	902;879	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	V	902;879	ENSP00000387694:L902V;ENSP00000243964:L879V	ENSP00000243964:L879V	L	+	1	2	SLC12A5	44115711	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.894000	0.69806	2.192000	0.70111	0.491000	0.48974	CTG		0.552	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1				24	267	0	0	0	0.008361	0	24	267		
ELMO2	63916	broad.mit.edu	37	20	45012097	45012097	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:45012097C>T	ENST00000290246.6	-	10	908	c.714G>A	c.(712-714)ctG>ctA	p.L238L	ELMO2_ENST00000396391.1_Silent_p.L238L|ELMO2_ENST00000352077.2_Silent_p.L236L|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Silent_p.L238L|ELMO2_ENST00000372176.1_Silent_p.L150L|ELMO2_ENST00000445496.2_Silent_p.L55L	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	238					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GTGCATTAATCAGTGCAATGG	0.458																																						uc002xrt.1		NaN																	0				ovary(1)	1						c.(712-714)CTG>CTA		engulfment and cell motility 2							131.0	134.0	133.0					20																	45012097		2203	4300	6503	SO:0001819	synonymous_variant	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45012097C>T	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.714G>A	20.37:g.45012097C>T						ELMO2_uc002xrs.1_5'Flank|ELMO2_uc002xru.1_Silent_p.L238L|ELMO2_uc010zxr.1_Silent_p.L238L|ELMO2_uc010zxs.1_Silent_p.L55L|ELMO2_uc002xrw.2_Silent_p.L55L|ELMO2_uc002xrx.1_Silent_p.L238L	p.L238L	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN			10	924	-		Myeloproliferative disorder(115;0.0122)	238					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	ENST00000290246.6	37	c.714G>A	CCDS13398.1																																																																																				0.458	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1		NM_022086		10	104	0	0	0	0.001368	0	10	104		
ARFGEF2	10564	broad.mit.edu	37	20	47641868	47641868	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:47641868G>C	ENST00000371917.4	+	36	4774	c.4774G>C	c.(4774-4776)Gat>Cat	p.D1592H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1592					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GCTGGATGCAGATATCCACAT	0.478																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NaN																	0				breast(3)|upper_aerodigestive_tract(1)	4						c.(4774-4776)GAT>CAT		ADP-ribosylation factor guanine							97.0	76.0	83.0					20																	47641868		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47641868G>C	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.4774G>C	20.37:g.47641868G>C	ENSP00000360985:p.Asp1592His					ARFGEF2_uc010zyf.1_Missense_Mutation_p.D885H	p.D1592H	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		36	4926	+			1592					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.4774G>C	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260058	0.80246	.	.	ENSG00000124198	ENST00000371917	T	0.49139	0.79	5.8	5.8	0.92144	Armadillo-type fold (1);	0.269967	0.40554	N	0.001076	T	0.47637	0.1456	L	0.54323	1.7	0.58432	D	0.999995	P	0.38300	0.626	B	0.36534	0.227	T	0.50346	-0.8839	10	0.59425	D	0.04	.	18.2511	0.90004	0.0:0.0:1.0:0.0	.	1592	Q9Y6D5	BIG2_HUMAN	H	1592	ENSP00000360985:D1592H	ENSP00000360985:D1592H	D	+	1	0	ARFGEF2	47075275	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	6.218000	0.72224	2.744000	0.94065	0.655000	0.94253	GAT		0.478	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1		NM_006420		3	22	0	0	0	0.009096	0	3	22		
RNF114	55905	broad.mit.edu	37	20	48562721	48562721	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:48562721G>A	ENST00000244061.2	+	4	449	c.447G>A	c.(445-447)aaG>aaA	p.K149K		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	149					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						GTCCTGAGAAGAACTTTGATC	0.378																																						uc002xux.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(445-447)AAG>AAA		zinc finger protein 313							91.0	79.0	83.0					20																	48562721		2203	4300	6503	SO:0001819	synonymous_variant	55905				cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding	g.chr20:48562721G>A	AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"""RING-type (C3HC4) zinc fingers"""	13094	protein-coding gene	gene with protein product		612451	"""zinc finger protein 313"""	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.447G>A	20.37:g.48562721G>A						RNF114_uc010zyo.1_Silent_p.K149K|RNF114_uc002xuy.2_RNA	p.K149K	NM_018683	NP_061153	Q9Y508	RN114_HUMAN			4	483	+			149					B2RDQ9|B4DWY5|E1P627|Q6N0B0	Silent	SNP	ENST00000244061.2	37	c.447G>A	CCDS33482.1																																																																																				0.378	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079663.1		NM_018683		6	69	0	0	0	0.010729	0	6	69		
NFATC2	4773	broad.mit.edu	37	20	50051746	50051746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:50051746G>A	ENST00000396009.3	-	8	2230	c.2011C>T	c.(2011-2013)Cag>Tag	p.Q671*	NFATC2_ENST00000610033.1_Nonsense_Mutation_p.Q452*|NFATC2_ENST00000609943.1_Nonsense_Mutation_p.Q651*|NFATC2_ENST00000609507.1_Nonsense_Mutation_p.Q452*|NFATC2_ENST00000414705.1_Nonsense_Mutation_p.Q651*|NFATC2_ENST00000371564.3_Nonsense_Mutation_p.Q671*	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	671					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTAAAGTGCTGAGGCTGACTT	0.478																																						uc002xwd.2		NaN																	0				ovary(2)	2						c.(2011-2013)CAG>TAG		nuclear factor of activated T-cells,							275.0	253.0	260.0					20																	50051746		2203	4300	6503	SO:0001587	stop_gained	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50051746G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2011C>T	20.37:g.50051746G>A	ENSP00000379330:p.Gln671*					NFATC2_uc002xwc.2_Nonsense_Mutation_p.Q671*|NFATC2_uc010zyv.1_Nonsense_Mutation_p.Q452*|NFATC2_uc010zyw.1_Nonsense_Mutation_p.Q452*|NFATC2_uc010zyx.1_Nonsense_Mutation_p.Q651*|NFATC2_uc010zyy.1_Nonsense_Mutation_p.Q452*|NFATC2_uc010zyz.1_Nonsense_Mutation_p.Q452*|NFATC2_uc002xwe.2_Nonsense_Mutation_p.Q651*	p.Q671*	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			8	2231	-	Hepatocellular(150;0.248)		671					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Nonsense_Mutation	SNP	ENST00000396009.3	37	c.2011C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	42	9.373182	0.99151	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.471	18.7988	0.92007	0.0:0.0:1.0:0.0	.	.	.	.	X	671;671;651	.	ENSP00000360619:Q671X	Q	-	1	0	NFATC2	49485153	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.420000	0.97426	2.511000	0.84671	0.655000	0.94253	CAG		0.478	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2		NM_012340		18	175	0	0	0	0.004656	0	18	175		
TSHZ2	128553	broad.mit.edu	37	20	51873094	51873094	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:51873094G>C	ENST00000371497.5	+	2	3984	c.3097G>C	c.(3097-3099)Gaa>Caa	p.E1033Q	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E1030Q|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E1030Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1033					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGACGTGGATGAAGAATAGCT	0.493																																						uc002xwo.2		NaN																	0				ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(3097-3099)GAA>CAA		teashirt zinc finger homeobox 2							126.0	124.0	124.0					20																	51873094		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51873094G>C	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.3097G>C	20.37:g.51873094G>C	ENSP00000360552:p.Glu1033Gln						p.E1033Q	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	4053	+			1033					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.3097G>C	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420741	0.62622	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.15017	2.46;2.46	5.53	5.53	0.82687	.	0.097205	0.64402	D	0.000001	T	0.14013	0.0339	N	0.08118	0	0.44995	D	0.998017	P	0.43231	0.801	B	0.43225	0.412	T	0.10753	-1.0616	10	0.72032	D	0.01	0.3404	19.4601	0.94914	0.0:0.0:1.0:0.0	.	1033	Q9NRE2	TSH2_HUMAN	Q	1033;1030	ENSP00000360552:E1033Q;ENSP00000333114:E1030Q	ENSP00000333114:E1030Q	E	+	1	0	TSHZ2	51306501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.385000	0.79763	2.603000	0.88011	0.643000	0.83706	GAA		0.493	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6		NM_173485		20	249	0	0	0	0.004656	0	20	249		
CASS4	57091	broad.mit.edu	37	20	55033555	55033555	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:55033555C>T	ENST00000360314.3	+	7	2338	c.2113C>T	c.(2113-2115)Cag>Tag	p.Q705*	CASS4_ENST00000371336.3_Nonsense_Mutation_p.Q705*|CASS4_ENST00000434344.1_Nonsense_Mutation_p.Q268*|AL121914.1_ENST00000390795.2_RNA	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	705					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GATCATCACTCAGAGCAAGCT	0.597																																						uc002xxp.2		NaN																	0				ovary(2)|skin(1)	3						c.(2113-2115)CAG>TAG		HEF-like protein isoform a							86.0	74.0	78.0					20																	55033555		2203	4300	6503	SO:0001587	stop_gained	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55033555C>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.2113C>T	20.37:g.55033555C>T	ENSP00000353462:p.Gln705*					CASS4_uc002xxr.2_Nonsense_Mutation_p.Q705*|CASS4_uc010zze.1_Nonsense_Mutation_p.Q651*|CASS4_uc010gio.2_Nonsense_Mutation_p.Q268*	p.Q705*	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			7	2338	+			705					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Nonsense_Mutation	SNP	ENST00000360314.3	37	c.2113C>T	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	C	40	8.138978	0.98672	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	.	.	.	5.91	5.91	0.95273	.	0.238888	0.43416	D	0.000572	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-13.8866	15.8542	0.78965	0.1361:0.8639:0.0:0.0	.	.	.	.	X	705;705;268	.	ENSP00000353462:Q705X	Q	+	1	0	CASS4	54466962	0.999000	0.42202	0.967000	0.41034	0.740000	0.42216	4.164000	0.58190	2.793000	0.96121	0.655000	0.94253	CAG		0.597	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2		NM_020356		27	210	0	0	0	0.010818	0	27	210		
RAE1	8480	broad.mit.edu	37	20	55949817	55949817	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:55949817G>A	ENST00000395841.2	+	11	1400	c.980G>A	c.(979-981)gGa>gAa	p.G327E	RAE1_ENST00000371242.2_Missense_Mutation_p.G327E|RAE1_ENST00000395840.2_Missense_Mutation_p.G327E|RAE1_ENST00000527947.1_Missense_Mutation_p.G327E	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	327					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AATCACAATGGAAACATATTT	0.493																																						uc002xyg.2		NaN																	0					0						c.(979-981)GGA>GAA		RAE1 (RNA export 1, S.pombe) homolog							121.0	107.0	112.0					20																	55949817		2203	4300	6503	SO:0001583	missense	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55949817G>A	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.980G>A	20.37:g.55949817G>A	ENSP00000379182:p.Gly327Glu					RAE1_uc010gis.1_Missense_Mutation_p.G280E|RAE1_uc010git.1_Missense_Mutation_p.G327E|RAE1_uc002xyh.2_Missense_Mutation_p.G327E|RAE1_uc002xyi.2_Missense_Mutation_p.G327E	p.G327E	NM_003610	NP_003601	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		11	1321	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		327					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	ENST00000395841.2	37	c.980G>A	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921922	0.73213	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	5.91	3.93	0.45458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90635	0.7063	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.74674	0.68;0.984;0.984	D	0.93683	0.7000	10	0.87932	D	0	-20.406	16.6038	0.84823	0.0:0.246:0.754:0.0	.	327;327;327	E9PQ57;A8K882;P78406	.;.;RAE1L_HUMAN	E	327	ENSP00000379182:G327E;ENSP00000360286:G327E;ENSP00000432609:G327E;ENSP00000379181:G327E	ENSP00000360286:G327E	G	+	2	0	RAE1	55383224	1.000000	0.71417	0.014000	0.15608	0.656000	0.38851	9.458000	0.97634	0.801000	0.34066	0.655000	0.94253	GGA		0.493	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2				5	95	0	0	0	0.001168	0	5	95		
GNAS	2778	broad.mit.edu	37	20	57429312	57429312	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:57429312C>T	ENST00000371100.4	+	1	1544	c.992C>T	c.(991-993)gCg>gTg	p.A331V	GNAS_ENST00000371102.4_Missense_Mutation_p.A331V|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.R268C|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.A331V	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCCCAATCGCGCTTGACGGC	0.647			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NaN		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		0				pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(991-993)GCG>GTG		GNAS complex locus XLas							17.0	24.0	22.0					20																	57429312		1923	4105	6028	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429312C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.992C>T	20.37:g.57429312C>T	ENSP00000360141:p.Ala331Val	TSP Lung(22;0.16)				GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	p.A331V	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1277	+	all_lung(29;0.0104)		Error:Variant_position_missing_in_P63092_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.992C>T	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.56|13.56	2.274275|2.274275	0.40194|0.40194	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102|ENST00000306120	D;D|.	0.89617|.	-2.54;-2.53|.	3.76|3.76	3.76|3.76	0.43208|0.43208	.|.	32.196900|.	0.00166|.	N|.	0.000002|.	T|T	0.55162|0.55162	0.1903|0.1903	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	P|.	0.58172|.	0.834|.	T|T	0.57780|0.57780	-0.7752|-0.7752	10|6	0.62326|0.56958	D|D	0.03|0.05	.|.	11.3504|11.3504	0.49585|0.49585	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	331|.	Q5JWF2|.	GNAS1_HUMAN|.	V|C	331|268	ENSP00000360141:A331V;ENSP00000360143:A331V|.	ENSP00000360140:A331V|ENSP00000302237:R268C	A|R	+|+	2|1	0|0	GNAS|GNAS	56862707|56862707	0.856000|0.856000	0.29760|0.29760	0.944000|0.944000	0.38274|0.38274	0.590000|0.590000	0.36582|0.36582	1.878000|1.878000	0.39608|0.39608	2.401000|2.401000	0.81631|0.81631	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.647	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3		NM_000516		6	47	0	0	0	0.004482	0	6	47		
CDH4	1002	broad.mit.edu	37	20	60448856	60448856	+	Missense_Mutation	SNP	G	G	A	rs147810745		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:60448856G>A	ENST00000360469.5	+	7	1038	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R243Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	317	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R317Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GTGCGGTACCGGATCGTGACC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17712	0.001		0.0	False		,,,				2504	0.0					uc002ybn.1		NaN																	1	Substitution - Missense(1)		prostate(1)	lung(3)|ovary(2)|skin(1)	6						c.(949-951)CGG>CAG		cadherin 4, type 1 preproprotein							167.0	131.0	143.0					20																	60448856		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60448856G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.950G>A	20.37:g.60448856G>A	ENSP00000353656:p.Arg317Gln					CDH4_uc002ybp.1_Missense_Mutation_p.R243Q	p.R317Q	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		7	964	+			317			Extracellular (Potential).|Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.950G>A	CCDS13488.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.74	3.464132	0.63513	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.51817	0.69;0.69	4.92	4.92	0.64577	Cadherin (4);Cadherin-like (1);	0.055234	0.85682	D	0.000000	T	0.48786	0.1519	L	0.31804	0.96	0.45390	D	0.998374	D	0.71674	0.998	P	0.52598	0.703	T	0.42548	-0.9445	9	.	.	.	.	18.1708	0.89744	0.0:0.0:1.0:0.0	.	317	P55283	CADH4_HUMAN	Q	317;225;243	ENSP00000353656:R317Q;ENSP00000443301:R243Q	.	R	+	2	0	CDH4	59882251	1.000000	0.71417	0.920000	0.36463	0.513000	0.34164	3.489000	0.53237	2.282000	0.76494	0.585000	0.79938	CGG		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2		NM_001794		31	295	0	0	0	0.003755	0	31	295		
MTG2	26164	broad.mit.edu	37	20	60768599	60768599	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:60768599C>T	ENST00000370823.3	+	2	141	c.123C>T	c.(121-123)ccC>ccT	p.P41P	MTG2_ENST00000536470.1_Intron|MTG2_ENST00000436421.2_Silent_p.P41P	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	41	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										GGGCTTCTCCCAGGCTGCTCT	0.617																																						uc002yce.3		NaN																	0					0						c.(121-123)CCC>CCT		GTP binding protein 5							52.0	55.0	54.0					20																	60768599		2203	4300	6503	SO:0001819	synonymous_variant	26164				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding	g.chr20:60768599C>T	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.123C>T	20.37:g.60768599C>T						GTPBP5_uc011aab.1_Intron|GTPBP5_uc011aac.1_Intron|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_Intron|GTPBP5_uc011aaf.1_Silent_p.P41P|GTPBP5_uc011aag.1_Silent_p.P41P	p.P41P	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.5e-08)		2	161	+	Breast(26;3.52e-09)		41			Localized in the mitocondria.|Not localized in the mitocondria.		A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	ENST00000370823.3	37	c.123C>T	CCDS13492.1																																																																																				0.617	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1		NM_015666		12	81	0	0	0	0.001368	0	12	81		
SLCO4A1	28231	broad.mit.edu	37	20	61300307	61300307	+	Silent	SNP	C	C	T	rs201252224		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:61300307C>T	ENST00000370507.1	+	10	1998	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	RP11-93B14.5_ENST00000411824.1_RNA|SLCO4A1_ENST00000217159.1_Silent_p.F634F|RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|RP11-93B14.5_ENST00000433126.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	634					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCATCGCCTTCGGCTGGGTGA	0.657											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1		NaN																	0				ovary(1)	1						c.(1900-1902)TTC>TTT		solute carrier organic anion transporter family							35.0	37.0	36.0					20																	61300307		2203	4300	6503	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61300307C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1902C>T	20.37:g.61300307C>T			OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1052	SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Silent_p.F36F	p.F634F	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		11	2107	+	Breast(26;3.65e-08)		634			Helical; Name=11; (Potential).		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.1902C>T	CCDS13501.1																																																																																				0.657	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2		NM_016354		9	83	0	0	0	0.001855	0	9	83		
SLCO4A1	28231	broad.mit.edu	37	20	61303163	61303163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:61303163C>T	ENST00000370507.1	+	11	2183	c.2087C>T	c.(2086-2088)tCa>tTa	p.S696L	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.S696L			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	696					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCGGAGTCTTCAGATGGCCTG	0.632																																					Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1		NaN																	0				ovary(1)	1						c.(2086-2088)TCA>TTA		solute carrier organic anion transporter family							75.0	73.0	73.0					20																	61303163		2203	4300	6503	SO:0001583	missense	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61303163C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.2087C>T	20.37:g.61303163C>T	ENSP00000359538:p.Ser696Leu					SLCO4A1_uc002ydc.1_Intron|SLCO4A1_uc002yde.1_Missense_Mutation_p.S98L	p.S696L	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		12	2292	+	Breast(26;3.65e-08)		696			Cytoplasmic (Potential).		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	c.2087C>T	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343033	0.41498	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000451793	T;T;T	0.70986	1.02;1.02;-0.53	4.42	4.42	0.53409	.	2.420130	0.01967	N	0.043765	T	0.72374	0.3452	L	0.60455	1.87	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.55477	-0.8135	10	0.34782	T	0.22	.	14.1031	0.65070	0.0:1.0:0.0:0.0	.	696	Q96BD0	SO4A1_HUMAN	L	696;696;696;125	ENSP00000217159:S696L;ENSP00000359538:S696L;ENSP00000414855:S125L	ENSP00000217159:S696L	S	+	2	0	SLCO4A1	60773608	0.040000	0.19996	0.005000	0.12908	0.844000	0.47949	3.081000	0.50120	2.150000	0.67090	0.491000	0.48974	TCA		0.632	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2		NM_016354		17	118	0	0	0	0.00499	0	17	118		
DIDO1	11083	broad.mit.edu	37	20	61512150	61512150	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:61512150C>T	ENST00000266070.4	-	16	5483	c.5158G>A	c.(5158-5160)Gag>Aag	p.E1720K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1720K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1720					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGTCCCCCTCTGTTTCACCT	0.647																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(5158-5160)GAG>AAG		death inducer-obliterator 1 isoform c							65.0	75.0	72.0					20																	61512150		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512150C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5158G>A	20.37:g.61512150C>T	ENSP00000266070:p.Glu1720Lys					DIDO1_uc002yds.1_Missense_Mutation_p.E1720K	p.E1720K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	5422	-	Breast(26;5.68e-08)		1720					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.5158G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056969	0.55325	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.11277	2.79;2.79	5.04	5.04	0.67666	.	0.155328	0.29280	N	0.012607	T	0.16854	0.0405	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	P	0.54629	0.757	T	0.00662	-1.1621	10	0.54805	T	0.06	-26.4203	13.8824	0.63689	0.0:1.0:0.0:0.0	.	1720	Q9BTC0	DIDO1_HUMAN	K	1720	ENSP00000266070:E1720K;ENSP00000378752:E1720K	ENSP00000266070:E1720K	E	-	1	0	DIDO1	60982595	0.997000	0.39634	0.119000	0.21687	0.008000	0.06430	5.050000	0.64251	2.322000	0.78497	0.650000	0.86243	GAG		0.647	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		20	241	0	0	0	0.007291	0	20	241		
RTEL1	51750	broad.mit.edu	37	20	62324221	62324221	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:62324221G>C	ENST00000360203.5	+	29	3041	c.2716G>C	c.(2716-2718)Gag>Cag	p.E906Q	RTEL1_ENST00000370003.1_Missense_Mutation_p.E151Q|RTEL1_ENST00000508582.2_Missense_Mutation_p.E930Q|RTEL1_ENST00000318100.4_Missense_Mutation_p.E906Q|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.E906Q|RTEL1_ENST00000370018.3_Missense_Mutation_p.E906Q					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CGTGAAGCAGGAGTTGAGCCA	0.652																																						uc002yfu.1		NaN																	0					0						c.(2716-2718)GAG>CAG		regulator of telomere elongation helicase 1							97.0	90.0	92.0					20																	62324221		2198	4294	6492	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324221G>C	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2716G>C	20.37:g.62324221G>C	ENSP00000353332:p.Glu906Gln					RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.E906Q|RTEL1_uc011abd.1_Missense_Mutation_p.E930Q|RTEL1_uc011abe.1_Missense_Mutation_p.E683Q|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Missense_Mutation_p.E151Q|TNFRSF6B_uc002yfy.2_5'Flank	p.E906Q	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		29	3059	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		906						Missense_Mutation	SNP	ENST00000360203.5	37	c.2716G>C		.	.	.	.	.	.	.	.	.	.	G	12.37	1.916925	0.33815	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86	4.59	3.49	0.39957	.	0.256722	0.39210	N	0.001425	T	0.09642	0.0237	N	0.22421	0.69	0.25898	N	0.983392	B;P;B;B	0.48694	0.375;0.914;0.08;0.219	B;P;B;B	0.48425	0.18;0.577;0.112;0.3	T	0.18178	-1.0345	10	0.25751	T	0.34	-7.4568	9.5257	0.39162	0.0:0.0:0.5849:0.4151	.	930;151;906;906	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	Q	906;906;930;906;151	ENSP00000359035:E906Q;ENSP00000322287:E906Q;ENSP00000424307:E930Q;ENSP00000353332:E906Q;ENSP00000359020:E151Q	ENSP00000353332:E906Q	E	+	1	0	AL353715.1	61794665	0.982000	0.34865	0.970000	0.41538	0.262000	0.26303	0.555000	0.23422	2.271000	0.75665	0.442000	0.29010	GAG		0.652	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1		NM_032957		18	193	0	0	0	0.007413	0	18	193		
ZBTB46	140685	broad.mit.edu	37	20	62421337	62421337	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:62421337C>T	ENST00000245663.4	-	2	924	c.774G>A	c.(772-774)caG>caA	p.Q258Q	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000302995.2_Silent_p.Q258Q|ZBTB46_ENST00000395104.1_Silent_p.Q258Q	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	258					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CACCAGCACTCTGCTCTGAGA	0.577																																						uc002ygv.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(772-774)CAG>CAA		zinc finger and BTB domain containing 46							81.0	76.0	78.0					20																	62421337		2203	4300	6503	SO:0001819	synonymous_variant	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421337C>T	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.774G>A	20.37:g.62421337C>T						ZBTB46_uc002ygu.2_RNA	p.Q258Q	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN			2	975	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		258					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	c.774G>A	CCDS13538.1																																																																																				0.577	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2		NM_025224		11	85	0	0	0	0.00245	0	11	85		
SOX18	54345	broad.mit.edu	37	20	62680557	62680557	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:62680557G>C	ENST00000340356.7	-	1	437	c.313C>G	c.(313-315)Cag>Gag	p.Q105E	ZNF512B_ENST00000450537.1_5'Flank	NM_018419.2	NP_060889.1	P35713	SOX18_HUMAN	SRY (sex determining region Y)-box 18	105					angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|cell maturation (GO:0048469)|embryonic heart tube development (GO:0035050)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|establishment of endothelial barrier (GO:0061028)|hair cycle process (GO:0022405)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell proliferation (GO:0072091)|stem cell fate specification (GO:0048866)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)	nuclear chromatin (GO:0000790)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			lung(3)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGGTTCTGCTGAGCCAGCCGC	0.726																																					GBM(27;64 690 17108 39708)	uc002yhs.2		NaN																	0					0						c.(313-315)CAG>GAG		SRY-box 18							28.0	31.0	30.0					20																	62680557		2195	4293	6488	SO:0001583	missense	54345				angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding	g.chr20:62680557G>C	AB033888	CCDS13552.1	20q13.33	2008-07-28			ENSG00000203883	ENSG00000203883		"""SRY (sex determining region Y)-boxes"""	11194	protein-coding gene	gene with protein product		601618				10807548	Standard	NM_018419		Approved		uc002yhs.3	P35713	OTTHUMG00000033017	ENST00000340356.7:c.313C>G	20.37:g.62680557G>C	ENSP00000341815:p.Gln105Glu						p.Q105E	NM_018419	NP_060889	P35713	SOX18_HUMAN			1	423	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		105			HMG box.		Q0VGA9|Q9NPH8	Missense_Mutation	SNP	ENST00000340356.7	37	c.313C>G	CCDS13552.1	.	.	.	.	.	.	.	.	.	.	g	12.36	1.913515	0.33815	.	.	ENSG00000203883	ENST00000340356	D	0.97752	-4.52	2.23	2.23	0.28157	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.473004	0.17171	U	0.184261	D	0.93048	0.7787	N	0.11560	0.145	0.28615	N	0.908473	B	0.29085	0.232	B	0.34991	0.193	D	0.88174	0.2866	10	0.29301	T	0.29	.	12.0489	0.53495	0.0:0.0:1.0:0.0	.	105	P35713	SOX18_HUMAN	E	105	ENSP00000341815:Q105E	ENSP00000341815:Q105E	Q	-	1	0	SOX18	62151001	0.071000	0.21146	0.996000	0.52242	0.846000	0.48090	1.237000	0.32695	1.074000	0.40909	0.187000	0.17357	CAG		0.726	SOX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080265.1				13	148	0	0	0	0.006122	0	13	148		
PCMTD2	55251	broad.mit.edu	37	20	62891502	62891502	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:62891502C>G	ENST00000308824.6	+	2	311	c.184C>G	c.(184-186)Cac>Gac	p.H62D	PCMTD2_ENST00000369758.4_Missense_Mutation_p.H62D|PCMTD2_ENST00000299468.7_Missense_Mutation_p.H62D|PCMTD2_ENST00000609372.1_Missense_Mutation_p.H62D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	62						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGGAAACATTCACCTCTCAGC	0.483																																						uc002yil.3		NaN																	0					0						c.(184-186)CAC>GAC		protein-L-isoaspartate (D-aspartate)							132.0	131.0	131.0					20																	62891502		2203	4300	6503	SO:0001583	missense	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62891502C>G	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.184C>G	20.37:g.62891502C>G	ENSP00000307854:p.His62Asp					PCMTD2_uc002yim.3_Missense_Mutation_p.H62D	p.H62D	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN			2	384	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		62					E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	37	c.184C>G	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	27.2	4.810152	0.90707	.	.	ENSG00000203880	ENST00000369758;ENST00000299468;ENST00000308824	T;T;T	0.40756	1.02;1.02;1.02	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.71013	0.3290	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.73531	-0.3953	10	0.49607	T	0.09	-49.9731	19.6287	0.95691	0.0:1.0:0.0:0.0	.	62;62	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	D	62	ENSP00000358773:H62D;ENSP00000299468:H62D;ENSP00000307854:H62D	ENSP00000299468:H62D	H	+	1	0	PCMTD2	62361946	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.131000	0.77243	2.652000	0.90054	0.563000	0.77884	CAC		0.483	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1		NM_018257		12	107	0	0	0	0.001368	0	12	107		
N6AMT1	29104	broad.mit.edu	37	21	30257552	30257552	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:30257552G>A	ENST00000303775.5	-	1	141	c.116C>T	c.(115-117)gCg>gTg	p.A39V	N6AMT1_ENST00000351429.3_Missense_Mutation_p.A39V	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	39					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TTCGGCAGCCGCTGCCTCCAG	0.667																																						uc002ymo.1		NaN																	0					0						c.(115-117)GCG>GTG		N-6 adenine-specific DNA methyltransferase 1							54.0	66.0	62.0					21																	30257552		2189	4282	6471	SO:0001583	missense	29104				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	g.chr21:30257552G>A	AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.116C>T	21.37:g.30257552G>A	ENSP00000303584:p.Ala39Val					N6AMT1_uc002ymp.1_Missense_Mutation_p.A39V|N6AMT1_uc002ymq.1_RNA	p.A39V	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN			1	142	-			39					Q96F73	Missense_Mutation	SNP	ENST00000303775.5	37	c.116C>T	CCDS33526.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257198	0.39896	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	T;T	0.17370	2.55;2.28	5.18	4.26	0.50523	Methyltransferase small (1);	0.058056	0.64402	D	0.000002	T	0.15609	0.0376	L	0.58101	1.795	0.31505	N	0.664294	B;B	0.28820	0.224;0.037	B;B	0.20577	0.03;0.011	T	0.04723	-1.0931	10	0.18710	T	0.47	-12.7035	11.824	0.52256	0.0:0.1754:0.8246:0.0	.	39;39	Q9Y5N5-2;Q9Y5N5	.;HEMK2_HUMAN	V	39	ENSP00000303584:A39V;ENSP00000286764:A39V	ENSP00000303584:A39V	A	-	2	0	N6AMT1	29179423	0.948000	0.32251	0.886000	0.34754	0.088000	0.18126	1.525000	0.35953	2.704000	0.92352	0.585000	0.79938	GCG		0.667	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1		NM_013240		16	266	0	0	0	0.011902	0	16	266		
SCAF4	57466	broad.mit.edu	37	21	33057990	33057990	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:33057990G>C	ENST00000286835.7	-	17	2482	c.2100C>G	c.(2098-2100)ttC>ttG	p.F700L	SCAF4_ENST00000434667.3_Missense_Mutation_p.F685L|SCAF4_ENST00000399804.1_Missense_Mutation_p.F700L	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	700						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAGGAGGCGTGAAAGCAGGCG	0.537																																						uc002ypd.2		NaN																	0					0						c.(2098-2100)TTC>TTG		splicing factor, arginine/serine-rich 15 isoform							71.0	72.0	71.0					21																	33057990		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33057990G>C	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2100C>G	21.37:g.33057990G>C	ENSP00000286835:p.Phe700Leu					SFRS15_uc002ype.2_Missense_Mutation_p.F700L|SFRS15_uc010glu.2_Missense_Mutation_p.F685L|SFRS15_uc002ypf.1_Missense_Mutation_p.F374L	p.F700L	NM_020706	NP_065757	O95104	SFR15_HUMAN			17	2526	-			700					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.2100C>G	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738128	0.49045	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.50548	0.74;0.75;0.76	5.81	5.81	0.92471	.	0.089199	0.49916	D	0.000135	T	0.46054	0.1373	M	0.62723	1.935	0.42212	D	0.991811	P;P;P;P	0.45531	0.78;0.787;0.86;0.78	B;B;B;B	0.42995	0.192;0.404;0.352;0.192	T	0.35076	-0.9803	10	0.18710	T	0.47	-6.0487	12.5506	0.56223	0.0762:0.0:0.9238:0.0	.	685;700;700;700	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	L	685;700;700	ENSP00000402377:F685L;ENSP00000286835:F700L;ENSP00000382703:F700L	ENSP00000286835:F700L	F	-	3	2	SCAF4	31979861	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	2.732000	0.47352	2.739000	0.93911	0.563000	0.77884	TTC		0.537	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1		XM_047889		13	93	0	0	0	0.004007	0	13	93		
IL10RB	3588	broad.mit.edu	37	21	34655402	34655402	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:34655402C>G	ENST00000290200.2	+	5	610	c.502C>G	c.(502-504)Caa>Gaa	p.Q168E	AP000295.9_ENST00000433395.2_Missense_Mutation_p.F295L	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	168	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TTACTAGTTTCAAATTACTCC	0.398																																					Melanoma(67;315 1275 21667 21943 44564)	uc002yrk.1		NaN																	0					0						c.(502-504)CAA>GAA		interleukin 10 receptor, beta precursor							114.0	104.0	107.0					21																	34655402		2203	4300	6503	SO:0001583	missense	3588				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity	g.chr21:34655402C>G	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.502C>G	21.37:g.34655402C>G	ENSP00000290200:p.Gln168Glu					IL10RB_uc002yrh.1_Missense_Mutation_p.Q238E|IL10RB_uc002yri.1_Missense_Mutation_p.Q121E|IL10RB_uc002yrl.1_Missense_Mutation_p.Q170E	p.Q168E	NM_000628	NP_000619	Q08334	I10R2_HUMAN			5	601	+			168			Fibronectin type-III.|Extracellular (Potential).		Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	37	c.502C>G	CCDS13623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.546|6.546	0.469022|0.469022	0.12461|0.12461	.|.	.|.	ENSG00000249624|ENSG00000243646	ENST00000433395|ENST00000290200;ENST00000539894	T|T	0.28666|0.26810	1.6|1.71	5.27|5.27	2.31|2.31	0.28768|0.28768	.|Fibronectin, type III (2);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	.|0.626286	.|0.16259	.|N	.|0.222354	T|T	0.10766|0.10766	0.0263|0.0263	N|N	0.11023|0.11023	0.085|0.085	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.04013	.|0.001;0.001;0.001;0.001	T|T	0.35748|0.35748	-0.9776|-0.9776	7|10	0.11485|0.09843	T|T	0.65|0.71	-0.6922|-0.6922	7.0084|7.0084	0.24849|0.24849	0.0:0.4694:0.4289:0.1017|0.0:0.4694:0.4289:0.1017	.|.	.|170;168;168;168	.|Q6ZVU9;Q08334;B4DSX5;F5H766	.|.;I10R2_HUMAN;.;.	L|E	295|168	ENSP00000388223:F295L|ENSP00000290200:Q168E	ENSP00000388223:F295L|ENSP00000290200:Q168E	F|Q	+|+	3|1	2|0	AP000295.9|IL10RB	33577272|33577272	0.000000|0.000000	0.05858|0.05858	0.008000|0.008000	0.14137|0.14137	0.107000|0.107000	0.19398|0.19398	-0.166000|-0.166000	0.09954|0.09954	0.587000|0.587000	0.29643|0.29643	0.561000|0.561000	0.74099|0.74099	TTC|CAA		0.398	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3				7	52	0	0	0	0.00308	0	7	52		
DOPEY2	9980	broad.mit.edu	37	21	37617864	37617864	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:37617864G>A	ENST00000399151.3	+	19	3671	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1196					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCAGCGACGAGGAGGCGGA	0.617																																						uc002yvg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3586-3588)GAG>AAG		pad-1-like							42.0	40.0	41.0					21																	37617864		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37617864G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3586G>A	21.37:g.37617864G>A	ENSP00000382104:p.Glu1196Lys					DOPEY2_uc011aeb.1_Missense_Mutation_p.E1145K|DOPEY2_uc002yvh.2_Missense_Mutation_p.E47K	p.E1196K	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			19	3665	+			1196					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.3586G>A	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928594	0.73327	.	.	ENSG00000142197	ENST00000399151	T	0.41065	1.01	5.15	4.23	0.50019	.	0.248975	0.42964	D	0.000636	T	0.53610	0.1807	L	0.59436	1.845	0.52501	D	0.999958	D;D	0.65815	0.995;0.991	P;P	0.55871	0.786;0.616	T	0.55055	-0.8200	10	0.44086	T	0.13	.	14.917	0.70805	0.0:0.0:0.8556:0.1444	.	1196;1196	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	K	1196	ENSP00000382104:E1196K	ENSP00000382104:E1196K	E	+	1	0	DOPEY2	36539734	1.000000	0.71417	0.997000	0.53966	0.660000	0.38997	7.450000	0.80656	1.246000	0.43901	0.655000	0.94253	GAG		0.617	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128		18	47	0	0	0	0.007413	0	18	47		
HLCS	3141	broad.mit.edu	37	21	38126565	38126565	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:38126565G>A	ENST00000399120.1	-	12	3393	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	HLCS_ENST00000336648.4_Silent_p.I721I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	721					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GTTTGGGGAGGATGAGGTTTC	0.577																																						uc010gnb.2		NaN																	0				ovary(2)|breast(1)|kidney(1)|liver(1)	5						c.(2161-2163)ATC>ATT		holocarboxylase synthetase	Biotin(DB00121)						46.0	45.0	45.0					21																	38126565		2203	4300	6503	SO:0001819	synonymous_variant	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38126565G>A		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.2163C>T	21.37:g.38126565G>A						HLCS_uc002yvs.2_Silent_p.I721I	p.I721I	NM_000411	NP_000402	P50747	BPL1_HUMAN			11	3364	-		Myeloproliferative disorder(46;0.0422)	721					B2RAH1|D3DSG6|Q99451	Silent	SNP	ENST00000399120.1	37	c.2163C>T	CCDS13647.1																																																																																				0.577	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2				9	66	0	0	0	0.001368	0	9	66		
HLCS	3141	broad.mit.edu	37	21	38309074	38309074	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:38309074G>C	ENST00000399120.1	-	5	1901	c.671C>G	c.(670-672)tCc>tGc	p.S224C	HLCS_ENST00000336648.4_Missense_Mutation_p.S224C	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	224					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TTCGGGAATGGACTCCCTGGT	0.522																																						uc010gnb.2		NaN																	0				ovary(2)|breast(1)|kidney(1)|liver(1)	5						c.(670-672)TCC>TGC		holocarboxylase synthetase	Biotin(DB00121)						76.0	79.0	78.0					21																	38309074		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38309074G>C		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.671C>G	21.37:g.38309074G>C	ENSP00000382071:p.Ser224Cys					HLCS_uc002yvs.2_Missense_Mutation_p.S224C|HLCS_uc010gnc.1_Missense_Mutation_p.S371C	p.S224C	NM_000411	NP_000402	P50747	BPL1_HUMAN			4	1872	-		Myeloproliferative disorder(46;0.0422)	224					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.671C>G	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818834	0.71028	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98192	-4.78;-4.78	5.91	5.91	0.95273	.	0.358826	0.35615	N	0.003082	D	0.96911	0.8991	L	0.40543	1.245	0.09310	N	0.99999	P;P	0.44578	0.838;0.703	B;B	0.43018	0.405;0.305	D	0.92750	0.6215	10	0.62326	D	0.03	.	19.8936	0.96942	0.0:0.0:1.0:0.0	.	224;224	B2RAH1;P50747	.;BPL1_HUMAN	C	224	ENSP00000382071:S224C;ENSP00000338387:S224C	ENSP00000338387:S224C	S	-	2	0	HLCS	37230944	1.000000	0.71417	0.007000	0.13788	0.848000	0.48234	9.259000	0.95561	2.793000	0.96121	0.655000	0.94253	TCC		0.522	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2				31	83	0	0	0	0.003271	0	31	83		
TTC3	7267	broad.mit.edu	37	21	38461129	38461129	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:38461129G>A	ENST00000399017.2	+	5	3116	c.369G>A	c.(367-369)aaG>aaA	p.K123K	TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Silent_p.K123K|TTC3_ENST00000354749.2_Silent_p.K123K|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Silent_p.K123K	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	123					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TAAATTTGAAGAAACTACAAC	0.323																																					Ovarian(38;194 1649 35661)	uc002yvz.2		NaN																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(367-369)AAG>AAA		tetratricopeptide repeat domain 3							71.0	70.0	70.0					21																	38461129		2203	4300	6503	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38461129G>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.369G>A	21.37:g.38461129G>A						TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Silent_p.K123K|TTC3_uc002ywb.2_Silent_p.K123K|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Silent_p.K123K	p.K123K	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			5	474	+		Myeloproliferative disorder(46;0.0412)	123					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.369G>A	CCDS13651.1																																																																																				0.323	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1				7	36	0	0	0	0.004482	0	7	36		
DSCAM	1826	broad.mit.edu	37	21	41457556	41457556	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:41457556C>T	ENST00000400454.1	-	23	4582	c.4105G>A	c.(4105-4107)Gaa>Aaa	p.E1369K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1369	Ig-like C2-type 10.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAATAATTTCATCAGATCCC	0.378																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NaN																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(4105-4107)GAA>AAA		Down syndrome cell adhesion molecule isoform							108.0	105.0	106.0					21																	41457556		1855	4096	5951	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41457556C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4105G>A	21.37:g.41457556C>T	ENSP00000383303:p.Glu1369Lys					DSCAM_uc002yyr.1_RNA	p.E1369K	NM_001389	NP_001380	O60469	DSCAM_HUMAN			23	4557	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1369			Extracellular (Potential).|Ig-like C2-type 10.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4105G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677618	0.29783	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.68903	-0.36;-0.36	5.63	5.63	0.86233	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.061000	0.64402	D	0.000002	T	0.47040	0.1424	N	0.11651	0.15	0.40390	D	0.979535	B	0.16603	0.018	B	0.18871	0.023	T	0.42999	-0.9418	10	0.26408	T	0.33	.	12.9623	0.58466	0.0:0.9267:0.0:0.0733	.	1369	O60469	DSCAM_HUMAN	K	1369;1121	ENSP00000383303:E1369K;ENSP00000385342:E1121K	ENSP00000383303:E1369K	E	-	1	0	DSCAM	40379426	0.802000	0.28943	0.737000	0.30932	0.901000	0.52897	1.636000	0.37144	2.652000	0.90054	0.655000	0.94253	GAA		0.378	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389		15	68	0	0	0	0.010504	0	15	68		
UMODL1	89766	broad.mit.edu	37	21	43557560	43557560	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:43557560C>A	ENST00000408910.2	+	22	3787	c.3787C>A	c.(3787-3789)Cat>Aat	p.H1263N	UMODL1_ENST00000400427.1_Missense_Mutation_p.H1319N|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.H1391N|UMODL1_ENST00000400424.2_Missense_Mutation_p.H1191N	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1263					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGAGCCTCCTCATGCAGAAGC	0.607																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1		NaN																	0				ovary(2)|skin(1)	3						c.(3787-3789)CAT>AAT		uromodulin-like 1 isoform 1 precursor							147.0	156.0	153.0					21																	43557560		2079	4221	6300	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43557560C>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3787C>A	21.37:g.43557560C>A	ENSP00000386147:p.His1263Asn					UMODL1_uc002zad.1_Missense_Mutation_p.H1191N|UMODL1_uc002zae.1_Missense_Mutation_p.H1319N|UMODL1_uc002zag.1_Missense_Mutation_p.H1391N|UMODL1_uc002zal.1_Missense_Mutation_p.H213N|UMODL1_uc010gpa.1_RNA	p.H1263N	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			22	3787	+			1263			Extracellular (Potential).		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.3787C>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	2.053	-0.417172	0.04766	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.71222	-0.55;-0.54;-0.54;-0.54	2.9	-0.745	0.11098	.	2.037080	0.02411	N	0.081695	T	0.45458	0.1343	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.006;0.001	T	0.17440	-1.0369	9	.	.	.	1.4303	0.1914	0.00134	0.2588:0.1815:0.2959:0.2638	.	1391;1263	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	N	1319;1191;1391;1263	ENSP00000383279:H1319N;ENSP00000383276:H1191N;ENSP00000386126:H1391N;ENSP00000386147:H1263N	.	H	+	1	0	UMODL1	42430629	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.928000	0.03980	-0.154000	0.11118	-0.311000	0.09066	CAT		0.607	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2				33	277	1	0	1.59361e-14	0.006999	1.70546e-14	33	277		
ABCG1	9619	broad.mit.edu	37	21	43704787	43704787	+	Silent	SNP	C	C	T	rs373041473		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:43704787C>T	ENST00000361802.2	+	7	997	c.852C>T	c.(850-852)ttC>ttT	p.F284F	ABCG1_ENST00000398437.1_Silent_p.F430F|ABCG1_ENST00000347800.2_Silent_p.F281F|ABCG1_ENST00000398449.3_Silent_p.F284F|ABCG1_ENST00000398457.2_Silent_p.F286F|ABCG1_ENST00000340588.4_Silent_p.F392F|ABCG1_ENST00000343687.3_Silent_p.F295F|ABCG1_ENST00000462050.1_3'UTR	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	284	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCGAGCTGTTCGACCAGGTAC	0.612																																						uc002zaq.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(850-852)TTC>TTT		ATP-binding cassette sub-family G member 1	Adenosine triphosphate(DB00171)	C	,,,,,	1,4405		0,1,2202	71.0	72.0	72.0		852,852,885,858,786,843	-5.7	0.7	21		72	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABCG1	NM_004915.3,NM_016818.2,NM_207174.1,NM_207627.1,NM_207628.1,NM_207629.1	,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,	284/679,284/667,295/678,286/669,262/645,281/664	43704787	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43704787C>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.852C>T	21.37:g.43704787C>T						ABCG1_uc002zan.2_Silent_p.F286F|ABCG1_uc002zam.2_Silent_p.F262F|ABCG1_uc002zao.2_Silent_p.F281F|ABCG1_uc002zap.2_Silent_p.F284F|ABCG1_uc002zar.2_Silent_p.F295F|ABCG1_uc011aev.1_Silent_p.F295F|ABCG1_uc010gpb.1_5'Flank	p.F284F	NM_004915	NP_004906	P45844	ABCG1_HUMAN			7	958	+			284			Cytoplasmic (Potential).|ABC transporter.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	c.852C>T	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	C	9.264	1.044002	0.19748	2.27E-4	0.0	ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161	.	.	.	4.22	-5.73	0.02398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.9042	15.6354	0.76946	0.0:0.2066:0.0:0.7934	.	.	.	.	X	20	.	.	R	+	1	2	ABCG1	42577856	0.004000	0.15560	0.693000	0.30195	0.810000	0.45777	-1.224000	0.02959	-1.798000	0.01250	-0.423000	0.05987	CGA		0.612	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2		NM_207174		42	221	0	0	0	0.00361	0	42	221		
NDUFV3	4731	broad.mit.edu	37	21	44329053	44329053	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:44329053C>G	ENST00000340344.4	+	3	315	c.249C>G	c.(247-249)acC>acG	p.T83T	NDUFV3_ENST00000354250.2_Silent_p.T448T|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	83					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		GCACGTACACCTTCTTAGACC	0.557																																						uc002zcn.2		NaN																	0				ovary(2)	2						c.(247-249)ACC>ACG		NADH-ubiquinone oxidoreductase flavoprotein 3	NADH(DB00157)						310.0	262.0	278.0					21																	44329053		2203	4300	6503	SO:0001819	synonymous_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44329053C>G		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.249C>G	21.37:g.44329053C>G						NDUFV3_uc002zcm.2_Silent_p.T448T	p.T83T	NM_001001503	NP_001001503	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	315	+			83					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Silent	SNP	ENST00000340344.4	37	c.249C>G	CCDS33573.1																																																																																				0.557	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2				28	360	0	0	0	0.009535	0	28	360		
RRP1B	23076	broad.mit.edu	37	21	45096216	45096216	+	Splice_Site	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:45096216G>T	ENST00000340648.4	+	7	730	c.613G>T	c.(613-615)Gac>Tac	p.D205Y		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	205					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GAAGACGAAGGAGTAAGTGAT	0.473																																						uc002zdk.2		NaN																	0				skin(1)	1						c.(613-615)GAC>TAC		ribosomal RNA processing 1 homolog B							103.0	101.0	102.0					21																	45096216		2203	4300	6503	SO:0001630	splice_region_variant	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45096216G>T	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.614+1G>T	21.37:g.45096216G>T							p.D205Y	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	7	727	+			205					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.613G>T	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069826	0.55539	.	.	ENSG00000160208	ENST00000340648	T	0.48522	0.81	5.47	4.59	0.56863	.	0.091455	0.85682	D	0.000000	T	0.68220	0.2977	M	0.81497	2.545	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.72268	-0.4343	10	0.87932	D	0	-6.3308	11.2827	0.49203	0.0858:0.0:0.9142:0.0	.	205	Q14684	RRP1B_HUMAN	Y	205	ENSP00000339145:D205Y	ENSP00000339145:D205Y	D	+	1	0	RRP1B	43920644	1.000000	0.71417	0.996000	0.52242	0.352000	0.29268	4.798000	0.62510	1.318000	0.45170	0.563000	0.77884	GAC		0.473	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1		NM_015056	Missense_Mutation	12	121	1	0	1.67942e-08	0.006122	1.77097e-08	12	121		
RRP1B	23076	broad.mit.edu	37	21	45096684	45096684	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:45096684G>A	ENST00000340648.4	+	8	802	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	229					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TTTTGTGCCTGAAGAGACGAT	0.502																																						uc002zdk.2		NaN																	0				skin(1)	1						c.(685-687)GAA>AAA		ribosomal RNA processing 1 homolog B							148.0	126.0	133.0					21																	45096684		2203	4300	6503	SO:0001583	missense	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45096684G>A	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.685G>A	21.37:g.45096684G>A	ENSP00000339145:p.Glu229Lys						p.E229K	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	8	799	+			229					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.685G>A	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045859	0.75846	.	.	ENSG00000160208	ENST00000340648	T	0.36878	1.23	5.61	4.72	0.59763	.	0.144593	0.64402	D	0.000010	T	0.50616	0.1626	M	0.82716	2.605	0.43688	D	0.996137	D	0.54397	0.966	P	0.48598	0.583	T	0.61158	-0.7119	10	0.87932	D	0	-1.5134	14.0513	0.64739	0.0:0.1507:0.8493:0.0	.	229	Q14684	RRP1B_HUMAN	K	229	ENSP00000339145:E229K	ENSP00000339145:E229K	E	+	1	0	RRP1B	43921112	1.000000	0.71417	0.112000	0.21494	0.659000	0.38960	3.192000	0.50989	1.346000	0.45694	0.563000	0.77884	GAA		0.502	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1		NM_015056		8	95	0	0	0	0.008291	0	8	95		
RRP1B	23076	broad.mit.edu	37	21	45096750	45096750	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:45096750G>C	ENST00000340648.4	+	8	868	c.751G>C	c.(751-753)Gaa>Caa	p.E251Q		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	251					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GGAGATACCTGAAAATGAGGT	0.453																																						uc002zdk.2		NaN																	0				skin(1)	1						c.(751-753)GAA>CAA		ribosomal RNA processing 1 homolog B							129.0	121.0	124.0					21																	45096750		2203	4300	6503	SO:0001583	missense	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45096750G>C	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.751G>C	21.37:g.45096750G>C	ENSP00000339145:p.Glu251Gln						p.E251Q	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	8	865	+			251					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.751G>C	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436598	0.25813	.	.	ENSG00000160208	ENST00000340648	T	0.32515	1.45	4.69	3.81	0.43845	.	1.282800	0.04761	N	0.426376	T	0.33933	0.0880	M	0.66939	2.045	0.09310	N	1	P	0.38335	0.627	B	0.34489	0.184	T	0.34925	-0.9809	10	0.87932	D	0	-2.4107	7.1425	0.25564	0.1974:0.0:0.8026:0.0	.	251	Q14684	RRP1B_HUMAN	Q	251	ENSP00000339145:E251Q	ENSP00000339145:E251Q	E	+	1	0	RRP1B	43921178	0.007000	0.16637	0.006000	0.13384	0.080000	0.17528	1.701000	0.37825	1.208000	0.43306	0.563000	0.77884	GAA		0.453	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1		NM_015056		7	89	0	0	0	0.00308	0	7	89		
ITGB2	3689	broad.mit.edu	37	21	46321536	46321536	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:46321536G>A	ENST00000397850.2	-	7	1064	c.612C>T	c.(610-612)ttC>ttT	p.F204F	ITGB2_ENST00000397852.1_Silent_p.F204F|ITGB2_ENST00000397857.1_Silent_p.F204F|ITGB2_ENST00000397854.3_Silent_p.F147F|ITGB2_ENST00000355153.4_Silent_p.F204F|ITGB2_ENST00000302347.5_Silent_p.F204F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	204	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCACGTGCCTGAAGGCAAACG	0.587																																						uc002zgd.2		NaN																	0				ovary(4)|central_nervous_system(3)|breast(2)	9						c.(610-612)TTC>TTT		integrin, beta 2 precursor	Simvastatin(DB00641)						165.0	147.0	153.0					21																	46321536		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46321536G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.612C>T	21.37:g.46321536G>A						ITGB2_uc002zge.2_Silent_p.F204F|ITGB2_uc002zgf.3_Silent_p.F204F|ITGB2_uc011afl.1_Silent_p.F126F|ITGB2_uc010gpw.2_Silent_p.F147F|ITGB2_uc002zgg.2_Silent_p.F204F	p.F204F	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	5	656	-			204			Extracellular (Potential).|VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.612C>T	CCDS13716.1																																																																																				0.587	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2		NM_000211		18	181	0	0	0	0.012319	0	18	181		
COL18A1	80781	broad.mit.edu	37	21	46898256	46898256	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:46898256G>A	ENST00000359759.4	+	8	2503	c.2482G>A	c.(2482-2484)Gac>Aac	p.D828N	COL18A1_ENST00000400337.2_Missense_Mutation_p.D413N|COL18A1_ENST00000355480.5_Missense_Mutation_p.D593N			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	828	Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCCCGGTGAAGACGGAAAGCC	0.527											OREG0026262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011afs.1		NaN																	0				central_nervous_system(1)	1						c.(2482-2484)GAC>AAC		alpha 1 type XVIII collagen isoform 3 precursor							140.0	151.0	147.0					21																	46898256		1938	4129	6067	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46898256G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2482G>A	21.37:g.46898256G>A	ENSP00000352798:p.Asp828Asn		OREG0026262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942	COL18A1_uc002zhg.2_Missense_Mutation_p.D413N|COL18A1_uc002zhi.2_Missense_Mutation_p.D593N	p.D828N	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	8	2503	+			828			Triple-helical region 2 (COL2).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.2482G>A		.	.	.	.	.	.	.	.	.	.	G	15.03	2.713405	0.48517	.	.	ENSG00000182871	ENST00000400337;ENST00000355480;ENST00000359759	T;T;T	0.59364	0.27;0.27;0.27	3.42	3.42	0.39159	.	.	.	.	.	T	0.57770	0.2076	L	0.31207	0.915	0.49915	D	0.999839	D;D;D	0.58620	0.983;0.979;0.979	P;P;P	0.57502	0.822;0.728;0.728	T	0.55995	-0.8052	9	0.33940	T	0.23	.	13.1535	0.59503	0.0:0.0:1.0:0.0	.	828;593;413	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	N	413;593;828	ENSP00000383191:D413N;ENSP00000347665:D593N;ENSP00000352798:D828N	ENSP00000347665:D593N	D	+	1	0	COL18A1	45722684	1.000000	0.71417	0.145000	0.22337	0.095000	0.18619	4.580000	0.60942	1.882000	0.54519	0.423000	0.28283	GAC		0.527	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1				5	73	0	0	0	0.001168	0	5	73		
BCL2L13	23786	broad.mit.edu	37	22	18209803	18209803	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:18209803G>A	ENST00000317582.5	+	7	1308	c.961G>A	c.(961-963)Gag>Aag	p.E321K	BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000543133.1_Missense_Mutation_p.E159K|BCL2L13_ENST00000337612.5_Missense_Mutation_p.E159K|BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000538149.1_Missense_Mutation_p.E197K	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	321	Glu-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GGGCATGGAAGAGGCTGCTGT	0.557																																						uc002zmw.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(961-963)GAG>AAG		BCL2-like 13 (apoptosis facilitator)							49.0	49.0	49.0					22																	18209803		2203	4300	6503	SO:0001583	missense	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18209803G>A	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.961G>A	22.37:g.18209803G>A	ENSP00000318883:p.Glu321Lys					BCL2L13_uc002zmx.2_Missense_Mutation_p.E159K|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.E159K|BCL2L13_uc011agk.1_Missense_Mutation_p.E197K|BCL2L13_uc010gqz.2_Missense_Mutation_p.E41K|BCL2L13_uc002zmz.2_Missense_Mutation_p.E159K|BCL2L13_uc002zna.2_Missense_Mutation_p.E41K	p.E321K	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	7	1179	+		all_epithelial(15;0.123)	321			Glu-rich.		B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	37	c.961G>A	CCDS13746.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483457	0.84854	.	.	ENSG00000099968	ENST00000317582;ENST00000543133;ENST00000538149;ENST00000337612	T;T;T;T	0.53423	1.95;0.63;0.62;0.63	4.95	4.95	0.65309	.	0.105878	0.64402	D	0.000007	T	0.43853	0.1266	L	0.43152	1.355	0.41703	D	0.98941	P;P	0.43094	0.799;0.682	B;B	0.38562	0.276;0.205	T	0.52064	-0.8625	10	0.66056	D	0.02	-1.1731	18.3773	0.90439	0.0:0.0:1.0:0.0	.	197;321	B7Z238;Q9BXK5	.;B2L13_HUMAN	K	321;159;197;159	ENSP00000318883:E321K;ENSP00000437667:E159K;ENSP00000441344:E197K;ENSP00000338932:E159K	ENSP00000318883:E321K	E	+	1	0	BCL2L13	16589803	1.000000	0.71417	0.055000	0.19348	0.408000	0.30992	8.615000	0.90920	2.570000	0.86706	0.655000	0.94253	GAG		0.557	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1		NM_015367		5	36	0	0	0	0.00308	0	5	36		
MICAL3	57553	broad.mit.edu	37	22	18324667	18324667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:18324667C>T	ENST00000441493.2	-	20	3074	c.2722G>A	c.(2722-2724)Gag>Aag	p.E908K	MICAL3_ENST00000207726.7_Missense_Mutation_p.E936K|MICAL3_ENST00000383094.3_Missense_Mutation_p.E908K|MICAL3_ENST00000444520.1_Missense_Mutation_p.E908K|MICAL3_ENST00000414725.2_Missense_Mutation_p.E936K|MICAL3_ENST00000400561.2_Missense_Mutation_p.E908K	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	908	Glu-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCGGTACCTCCTGCAGTGCC	0.682																																						uc002zng.3		NaN																	0					0						c.(2722-2724)GAG>AAG		microtubule associated monoxygenase, calponin							16.0	17.0	17.0					22																	18324667		1568	3574	5142	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18324667C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2722G>A	22.37:g.18324667C>T	ENSP00000416015:p.Glu908Lys					MICAL3_uc011agl.1_Missense_Mutation_p.E908K|MICAL3_uc002znh.2_Missense_Mutation_p.E908K|MICAL3_uc002znj.1_Missense_Mutation_p.E636K|MICAL3_uc002znk.1_Missense_Mutation_p.E908K|MICAL3_uc002znl.1_Missense_Mutation_p.E541K	p.E908K	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	20	3075	-		all_epithelial(15;0.198)	908			Glu-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.2722G>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	36	5.893708	0.97074	.	.	ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T	0.67865	-0.29;-0.21;-0.21;-0.22;-0.19;-0.22	5.71	5.71	0.89125	.	0.070069	0.56097	D	0.000032	T	0.78868	0.4351	L	0.48642	1.525	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.78314	0.991;0.991;0.985	T	0.79410	-0.1815	10	0.72032	D	0.01	.	19.8575	0.96767	0.0:1.0:0.0:0.0	.	908;908;908	Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;MICA3_HUMAN	K	908;908;908;936;908;936	ENSP00000416015:E908K;ENSP00000383406:E908K;ENSP00000410315:E908K;ENSP00000391827:E936K;ENSP00000372574:E908K;ENSP00000207726:E936K	ENSP00000207726:E936K	E	-	1	0	XXbac-B461K10.4;MICAL3	16704667	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.818000	0.86416	2.698000	0.92095	0.561000	0.74099	GAG		0.682	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1				3	15	0	0	0	0.009096	0	3	15		
TRMT2A	27037	broad.mit.edu	37	22	20102529	20102529	+	Missense_Mutation	SNP	G	G	A	rs559001105		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:20102529G>A	ENST00000252136.7	-	5	1352	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C	TRMT2A_ENST00000404751.3_Missense_Mutation_p.R322C|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.R322C|TRMT2A_ENST00000492988.1_5'UTR|RANBP1_ENST00000430524.1_5'Flank|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.R322C	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	322					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						TGGTGGCGGCGGCTGGTGCGC	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		14356	0.0		0.0	False		,,,				2504	0.001					uc002zrk.1		NaN																	0				breast(1)	1						c.(964-966)CGC>TGC		HpaII tiny fragments locus 9C							37.0	35.0	36.0					22																	20102529		2197	4291	6488	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20102529G>A	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.964C>T	22.37:g.20102529G>A	ENSP00000252136:p.Arg322Cys					TRMT2A_uc002zrl.1_Missense_Mutation_p.R322C|TRMT2A_uc002zrm.1_Missense_Mutation_p.R144C|TRMT2A_uc002zrn.1_Missense_Mutation_p.R322C|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	p.R322C	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN			6	1179	-			322					D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.964C>T	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683698	0.47991	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169	T;T;T	0.49720	0.78;0.78;0.77	5.12	2.86	0.33363	.	0.048703	0.85682	D	0.000000	T	0.37732	0.1014	M	0.64997	1.995	0.58432	D	0.999991	B;P;B	0.39044	0.265;0.656;0.249	B;B;B	0.26770	0.033;0.073;0.033	T	0.35649	-0.9780	10	0.37606	T	0.19	-28.6214	11.7794	0.52003	0.0:0.0:0.4652:0.5347	.	322;322;322	F2Z2W7;Q8IZ69-2;Q8IZ69	.;.;TRM2A_HUMAN	C	322	ENSP00000252136:R322C;ENSP00000385807:R322C;ENSP00000395738:R322C	ENSP00000252136:R322C	R	-	1	0	TRMT2A	18482529	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	2.142000	0.42177	1.138000	0.42230	0.561000	0.74099	CGC		0.652	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3		NM_022727		3	21	0	0	0	0.004672	0	3	21		
CRKL	1399	broad.mit.edu	37	22	21272303	21272303	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:21272303G>A	ENST00000354336.3	+	1	590	c.81G>A	c.(79-81)cgG>cgA	p.R27R		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	27	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			CGCAGACCCGGCTCCAGGGCC	0.662																																					Pancreas(85;3 1441 23889 42519 42763)	uc002ztf.2		NaN																	0					0						c.(79-81)CGG>CGA		v-crk sarcoma virus CT10 oncogene homolog							44.0	45.0	45.0					22																	21272303		2203	4300	6503	SO:0001819	synonymous_variant	1399				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr22:21272303G>A		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.81G>A	22.37:g.21272303G>A						CRKL_uc002ztg.1_RNA	p.R27R	NM_005207	NP_005198	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)		1	590	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	27			SH2.		A8KA44|D3DX35	Silent	SNP	ENST00000354336.3	37	c.81G>A	CCDS13785.1																																																																																				0.662	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1		NM_005207		15	64	0	0	0	0.007413	0	15	64		
TOP3B	8940	broad.mit.edu	37	22	22330076	22330076	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:22330076C>T	ENST00000398793.2	-	2	440	c.6G>A	c.(4-6)aaG>aaA	p.K2K	TOP3B_ENST00000357179.5_Silent_p.K2K|TOP3B_ENST00000413067.2_5'UTR	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	2					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TGAGCACAGTCTTCATTTTGT	0.493																																						uc002zvs.2		NaN																	0				kidney(1)	1						c.(4-6)AAG>AAA		topoisomerase (DNA) III beta							99.0	77.0	84.0					22																	22330076		2203	4300	6503	SO:0001819	synonymous_variant	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22330076C>T	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.6G>A	22.37:g.22330076C>T						TOP3B_uc010gtl.2_Silent_p.K2K|TOP3B_uc002zvt.3_Silent_p.K2K	p.K2K	NM_003935	NP_003926	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	441	-	Colorectal(54;0.105)		2					A0M8Q3|Q9BUP5	Silent	SNP	ENST00000398793.2	37	c.6G>A	CCDS13797.1																																																																																				0.493	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1		NM_003935		5	45	0	0	0	0.000602	0	5	45		
RSPH14	27156	broad.mit.edu	37	22	23482428	23482428	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:23482428G>C	ENST00000216036.4	-	2	376	c.180C>G	c.(178-180)atC>atG	p.I60M	RTDR1_ENST00000406876.1_Missense_Mutation_p.I60M	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		60										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TGGCCTTGTAGATACACTCGG	0.557																																						uc002zwt.2		NaN																	0				ovary(1)	1						c.(178-180)ATC>ATG		rhabdoid tumor deletion region protein 1							119.0	90.0	100.0					22																	23482428		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23482428G>C																												ENST00000216036.4:c.180C>G	22.37:g.23482428G>C	ENSP00000216036:p.Ile60Met					RTDR1_uc010gtv.1_Missense_Mutation_p.I60M	p.I60M	NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	2	338	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		60						Missense_Mutation	SNP	ENST00000216036.4	37	c.180C>G	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175448	0.38413	.	.	ENSG00000100218	ENST00000216036;ENST00000452757;ENST00000406876	T;T;T	0.52526	0.73;0.66;0.66	4.91	3.83	0.44106	Armadillo-like helical (1);Armadillo-type fold (1);	0.606388	0.16097	N	0.229749	T	0.52693	0.1750	L	0.29908	0.895	0.30181	N	0.800439	D;D	0.60160	0.987;0.987	P;D	0.63488	0.828;0.915	T	0.47837	-0.9086	10	0.33940	T	0.23	-52.0485	13.7409	0.62847	0.0:0.1555:0.8445:0.0	.	81;60	B7Z5X4;Q9UHP6	.;RTDR1_HUMAN	M	60;20;60	ENSP00000216036:I60M;ENSP00000391552:I20M;ENSP00000385567:I60M	ENSP00000216036:I60M	I	-	3	3	RTDR1	21812428	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	3.799000	0.55529	2.456000	0.83038	0.561000	0.74099	ATC		0.557	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1				6	53	0	0	0	0.00308	0	6	53		
SUSD2	56241	broad.mit.edu	37	22	24579478	24579478	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:24579478C>G	ENST00000358321.3	+	3	564	c.303C>G	c.(301-303)atC>atG	p.I101M		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	101					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGGACAGCATCCAGACCCTCG	0.627																																						uc002zzn.1		NaN																	0				skin(1)	1						c.(301-303)ATC>ATG		sushi domain containing 2 precursor							104.0	98.0	100.0					22																	24579478		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579478C>G	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.303C>G	22.37:g.24579478C>G	ENSP00000351075:p.Ile101Met						p.I101M	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			3	347	+			101			Extracellular (Potential).		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.303C>G	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560138	0.27827	.	.	ENSG00000099994	ENST00000358321	T	0.10005	2.92	3.5	2.45	0.29901	.	0.620035	0.16006	N	0.234040	T	0.13415	0.0325	M	0.64997	1.995	0.09310	N	0.999998	P	0.44578	0.838	B	0.42422	0.387	T	0.08973	-1.0696	10	0.49607	T	0.09	-35.8842	8.914	0.35570	0.0:0.7481:0.2519:0.0	.	101	Q9UGT4	SUSD2_HUMAN	M	101	ENSP00000351075:I101M	ENSP00000351075:I101M	I	+	3	3	SUSD2	22909478	0.000000	0.05858	0.279000	0.24732	0.673000	0.39480	-0.328000	0.07945	1.059000	0.40554	0.449000	0.29647	ATC		0.627	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1		NM_019601		30	256	0	0	0	0.007835	0	30	256		
SUSD2	56241	broad.mit.edu	37	22	24579487	24579487	+	Silent	SNP	C	C	A	rs143350390		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:24579487C>A	ENST00000358321.3	+	3	573	c.312C>A	c.(310-312)ctC>ctA	p.L104L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	104					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TCCAGACCCTCGGCCATGTGG	0.627																																						uc002zzn.1		NaN																	0				skin(1)	1						c.(310-312)CTC>CTA		sushi domain containing 2 precursor							108.0	100.0	103.0					22																	24579487		2203	4300	6503	SO:0001819	synonymous_variant	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579487C>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.312C>A	22.37:g.24579487C>A							p.L104L	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			3	356	+			104			Extracellular (Potential).		Q9H5Y6	Silent	SNP	ENST00000358321.3	37	c.312C>A	CCDS13824.1																																																																																				0.627	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1		NM_019601		30	264	1	0	2.52637e-11	0.005524	2.68375e-11	30	264		
SUSD2	56241	broad.mit.edu	37	22	24581693	24581693	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:24581693G>A	ENST00000358321.3	+	8	1396	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	379	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCTGACAGCTGACTCCAGCGG	0.687																																						uc002zzn.1		NaN																	0				skin(1)	1						c.(1135-1137)GAC>AAC		sushi domain containing 2 precursor							20.0	20.0	20.0					22																	24581693		2201	4293	6494	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24581693G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1135G>A	22.37:g.24581693G>A	ENSP00000351075:p.Asp379Asn						p.D379N	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			8	1179	+			379			AMOP.|Extracellular (Potential).		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.1135G>A	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271365	0.80469	.	.	ENSG00000099994	ENST00000358321	T	0.26067	1.76	4.63	4.63	0.57726	AMOP (3);	0.049464	0.85682	D	0.000000	T	0.55433	0.1920	M	0.87269	2.87	0.50313	D	0.999862	D	0.89917	1.0	D	0.91635	0.999	T	0.59862	-0.7374	10	0.38643	T	0.18	-40.8992	15.4179	0.74987	0.0:0.0:1.0:0.0	.	379	Q9UGT4	SUSD2_HUMAN	N	379	ENSP00000351075:D379N	ENSP00000351075:D379N	D	+	1	0	SUSD2	22911693	1.000000	0.71417	0.882000	0.34594	0.189000	0.23516	8.823000	0.92018	2.308000	0.77769	0.456000	0.33151	GAC		0.687	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1		NM_019601		11	40	0	0	0	0.001368	0	11	40		
TPST2	8459	broad.mit.edu	37	22	26932283	26932283	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:26932283C>T	ENST00000338754.4	-	4	1282	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	TPST2_ENST00000398110.2_Missense_Mutation_p.D338N|TPST2_ENST00000403880.1_Missense_Mutation_p.D338N	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	338					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						ACGAAGGGGTCAGGGTTGCCA	0.572																																						uc003acv.2		NaN																	0				central_nervous_system(1)	1						c.(1012-1014)GAC>AAC		tyrosylprotein sulfotransferase 2							69.0	62.0	64.0					22																	26932283		2203	4300	6503	SO:0001583	missense	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26932283C>T	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.1012G>A	22.37:g.26932283C>T	ENSP00000339813:p.Asp338Asn					TPST2_uc003acw.2_Missense_Mutation_p.D338N|TPST2_uc003acx.2_Missense_Mutation_p.D338N	p.D338N	NM_003595	NP_003586	O60704	TPST2_HUMAN			3	1180	-			338			Lumenal (Potential).		B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	c.1012G>A	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141864	0.94560	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000445720	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	D	0.84520	0.5490	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.87143	0.2204	9	0.87932	D	0	-53.3677	18.2037	0.89847	0.0:1.0:0.0:0.0	.	338	O60704	TPST2_HUMAN	N	338;338;338;271;85	.	ENSP00000339813:D338N	D	-	1	0	TPST2	25262283	1.000000	0.71417	0.971000	0.41717	0.749000	0.42624	7.206000	0.77891	2.535000	0.85469	0.655000	0.94253	GAC		0.572	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3		NM_003595		7	73	0	0	0	0.006214	0	7	73		
RASL10A	10633	broad.mit.edu	37	22	29706489	29706489	+	IGR	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:29706489G>A	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000360113.2_Missense_Mutation_p.E232K|GAS2L1_ENST00000403764.1_Missense_Mutation_p.E232K|GAS2L1_ENST00000471961.1_Missense_Mutation_p.E232K|GAS2L1_ENST00000406549.3_Missense_Mutation_p.E232K|GAS2L1_ENST00000407647.2_Missense_Mutation_p.E232K|GAS2L1_ENST00000407854.1_Missense_Mutation_p.E232K|GAS2L1_ENST00000341313.6_Missense_Mutation_p.E232K	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						CAAGGTCTCAGAGGGGAAGTA	0.647																																						uc003afa.1		NaN																	0					0						c.(694-696)GAG>AAG		growth arrest-specific 2 like 1 isoform a							81.0	80.0	80.0					22																	29706489		2203	4300	6503	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29706489G>A	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29706489G>A						GAS2L1_uc010gvm.1_Missense_Mutation_p.E232K|GAS2L1_uc003afb.1_Missense_Mutation_p.E232K|GAS2L1_uc003afc.1_Missense_Mutation_p.E232K|GAS2L1_uc003afd.1_Missense_Mutation_p.E232K|GAS2L1_uc003afe.1_Missense_Mutation_p.E232K	p.E232K	NM_152236	NP_689422	Q99501	GA2L1_HUMAN			3	893	+			232			GAR.		Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	c.694G>A	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	g	27.1	4.801514	0.90538	.	.	ENSG00000185340	ENST00000407647;ENST00000333679;ENST00000406549;ENST00000360113;ENST00000341313;ENST00000403764;ENST00000471961;ENST00000407854	T;T;T;T;T;T;T	0.57273	0.41;0.48;0.65;0.66;0.41;0.41;0.41	4.5	3.46	0.39613	Growth-arrest-specific protein 2 domain (5);	0.078304	0.48767	D	0.000172	T	0.69895	0.3162	M	0.69823	2.125	0.47065	D	0.999302	D;D;D;D	0.76494	0.997;0.999;0.967;0.967	D;D;P;P	0.77004	0.979;0.989;0.884;0.884	T	0.73404	-0.3993	10	0.72032	D	0.01	-18.4595	13.9455	0.64082	0.0:0.1538:0.8462:0.0	.	232;232;232;232	B5MCR7;E7EQM6;A0A5E8;Q99501	.;.;.;GA2L1_HUMAN	K	232	ENSP00000385554:E232K;ENSP00000383995:E232K;ENSP00000353229:E232K;ENSP00000344012:E232K;ENSP00000385358:E232K;ENSP00000450152:E232K;ENSP00000385023:E232K	ENSP00000332834:E232K	E	+	1	0	GAS2L1	28036489	1.000000	0.71417	0.705000	0.30386	0.712000	0.41017	9.633000	0.98432	0.854000	0.35336	0.486000	0.48141	GAG		0.647	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1				19	120	0	0	0	0.00333	0	19	120		
AP1B1	162	broad.mit.edu	37	22	29737585	29737585	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:29737585G>A	ENST00000405198.1	-	12	1732	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	AP1B1_ENST00000317368.7_Silent_p.I567I|AP1B1_ENST00000402502.1_Silent_p.I567I|AP1B1_ENST00000432560.2_Silent_p.I567I|AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000415447.1_Silent_p.I567I|AP1B1_ENST00000356015.2_Silent_p.I567I|AP1B1_ENST00000357586.2_Silent_p.I567I			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	567					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCAGCGTGCCGATGTAGCAGA	0.617																																						uc003afj.2		NaN																	0				ovary(1)|skin(1)	2						c.(1699-1701)ATC>ATT		adaptor-related protein complex 1 beta 1 subunit							138.0	106.0	117.0					22																	29737585		2203	4300	6503	SO:0001819	synonymous_variant	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29737585G>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1701C>T	22.37:g.29737585G>A						AP1B1_uc003afi.2_Silent_p.I567I|AP1B1_uc003afk.2_Silent_p.I567I|AP1B1_uc003afl.2_Silent_p.I567I|AP1B1_uc011ako.1_Silent_p.I120I	p.I567I	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			13	1885	-			567					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	c.1701C>T	CCDS13855.1																																																																																				0.617	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1		NM_001127		17	109	0	0	0	0.00278	0	17	109		
SF3A1	10291	broad.mit.edu	37	22	30730592	30730592	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:30730592C>T	ENST00000215793.8	-	16	2527	c.2373G>A	c.(2371-2373)agG>agA	p.R791R	SF3A1_ENST00000439242.1_Silent_p.R726R	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	791	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCTACTTCTTCCTCCCGCCTC	0.562																																						uc003ahl.2		NaN																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(2371-2373)AGG>AGA		splicing factor 3a, subunit 1, 120kDa isoform 1							139.0	121.0	127.0					22																	30730592		2203	4300	6503	SO:0001819	synonymous_variant	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30730592C>T	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.2373G>A	22.37:g.30730592C>T							p.R791R	NM_005877	NP_005868	Q15459	SF3A1_HUMAN			16	2505	-			791			Ubiquitin-like.		E9PAW1	Silent	SNP	ENST00000215793.8	37	c.2373G>A	CCDS13875.1																																																																																				0.562	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2		NM_005877		20	158	0	0	0	0.00333	0	20	158		
TCN2	6948	broad.mit.edu	37	22	31019015	31019015	+	Silent	SNP	C	C	T	rs369722707		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:31019015C>T	ENST00000215838.3	+	8	1661	c.1167C>T	c.(1165-1167)gcC>gcT	p.A389A	TCN2_ENST00000407817.3_Silent_p.A362A|TCN2_ENST00000405742.3_Silent_p.A385A			P20062	TCO2_HUMAN	transcobalamin II	389					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAAAGCGGCCGGAGAAAGGG	0.562																																						uc003aip.1		NaN																	0				central_nervous_system(1)	1						c.(1165-1167)GCC>GCT		transcobalamin II precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	,	1,4405	2.1+/-5.4	0,1,2202	89.0	85.0	86.0		1167,1086	-3.7	0.0	22		86	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TCN2	NM_000355.3,NM_001184726.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	389/428,362/401	31019015	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31019015C>T		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.1167C>T	22.37:g.31019015C>T						TCN2_uc003aiq.1_Silent_p.A385A|TCN2_uc003air.1_Silent_p.A362A	p.A389A	NM_000355	NP_000346	P20062	TCO2_HUMAN			8	1325	+			389					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Silent	SNP	ENST00000215838.3	37	c.1167C>T	CCDS13881.1																																																																																				0.562	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2		NM_000355		9	96	0	0	0	0.010729	0	9	96		
APOL4	80832	broad.mit.edu	37	22	36587672	36587672	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36587672C>T	ENST00000352371.1	-	6	728	c.504G>A	c.(502-504)ctG>ctA	p.L168L	APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000332987.1_Silent_p.L165L|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	169					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						CAGTAATGCTCAGGCTCAGCC	0.562																																						uc003aox.2		NaN																	0					0						c.(505-507)CTG>CTA		apolipoprotein L4 isoform 2 precursor							49.0	51.0	51.0					22																	36587672		2199	4298	6497	SO:0001819	synonymous_variant	80832				lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	g.chr22:36587672C>T	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"""Apolipoproteins"""	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000352371.1:c.504G>A	22.37:g.36587672C>T						APOL4_uc003aow.2_Silent_p.L166L|APOL4_uc010gww.2_Silent_p.L11L	p.L169L	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN			6	732	-			169					Q9BQ37|Q9BXQ8	Silent	SNP	ENST00000352371.1	37	c.507G>A																																																																																					0.562	APOL4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_145660		5	16	0	0	0	0.000602	0	5	16		
APOL2	23780	broad.mit.edu	37	22	36623580	36623580	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36623580G>C	ENST00000249066.6	-	6	1360	c.884C>G	c.(883-885)tCa>tGa	p.S295*	APOL2_ENST00000451256.2_Nonsense_Mutation_p.S407*|APOL2_ENST00000358502.5_Nonsense_Mutation_p.S295*	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	295					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						CAAGTGCTTTGACTCATATGC	0.562																																						uc003aoz.2		NaN																	0					0						c.(883-885)TCA>TGA		apolipoprotein L2							104.0	109.0	107.0					22																	36623580		2202	4300	6502	SO:0001587	stop_gained	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36623580G>C	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.884C>G	22.37:g.36623580G>C	ENSP00000249066:p.Ser295*					APOL2_uc011amm.1_Nonsense_Mutation_p.S407*|APOL2_uc003apa.2_Nonsense_Mutation_p.S295*	p.S295*	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN			5	1220	-			295					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Nonsense_Mutation	SNP	ENST00000249066.6	37	c.884C>G	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686189	0.47991	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256	.	.	.	3.66	3.66	0.41972	.	1.652740	0.03049	N	0.154285	.	.	.	.	.	.	0.53688	D	0.999973	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	11.0305	0.47769	0.0:0.0:1.0:0.0	.	.	.	.	X	295;295;407	.	ENSP00000249066:S295X	S	-	2	0	APOL2	34953526	0.079000	0.21365	0.003000	0.11579	0.002000	0.02628	3.214000	0.51161	2.053000	0.61076	0.411000	0.27672	TCA		0.562	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1		NM_145637		29	171	0	0	0	0.00623	0	29	171		
APOL2	23780	broad.mit.edu	37	22	36624083	36624084	+	Missense_Mutation	DNP	AG	AG	TA	rs372881690		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36624083_36624084AG>TA	ENST00000249066.6	-	6	856_857	c.380_381CT>TA	c.(379-381)tCT>tTA	p.S127L	APOL2_ENST00000451256.2_Missense_Mutation_p.S239L|APOL2_ENST00000358502.5_Missense_Mutation_p.S127L	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	127					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)	p.S127C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TCAGGATGCCAGAGGTAGTGCC	0.574																																						uc003aoz.2		NaN																	1	Substitution - Missense(1)		breast(1)		0						c.(379-381)TCT>TTA		apolipoprotein L2																																				SO:0001583	missense	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36624083_36624084AG>TA	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.380_381delinsTA	22.37:g.36624083_36624084delinsTA	ENSP00000249066:p.Ser127Leu					APOL2_uc011amm.1_Missense_Mutation_p.S239L|APOL2_uc003apa.2_Missense_Mutation_p.S127L	p.S127L	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN			5	716_717	-			127					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	DNP	ENST00000249066.6	37	c.380_381CT>TA	CCDS43014.1																																																																																				0.574	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1		NM_145637		14	57	0	0	0	0.004672	0	14	57		
APOL1	8542	broad.mit.edu	37	22	36661542	36661542	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36661542G>C	ENST00000397278.3	+	6	889	c.660G>C	c.(658-660)ttG>ttC	p.L220F	APOL1_ENST00000422706.1_Missense_Mutation_p.L220F|APOL1_ENST00000319136.4_Missense_Mutation_p.L236F|APOL1_ENST00000347595.7_Missense_Mutation_p.L99F|APOL1_ENST00000397279.4_Missense_Mutation_p.L220F|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.L202F	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	220					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CAGCCGCTTTGACCGGGATTA	0.557																																						uc003apf.2		NaN																	0				breast(2)|ovary(1)	3						c.(658-660)TTG>TTC		apolipoprotein L1 isoform a precursor							100.0	97.0	98.0					22																	36661542		2203	4300	6503	SO:0001583	missense	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36661542G>C	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.660G>C	22.37:g.36661542G>C	ENSP00000380448:p.Leu220Phe					APOL1_uc011amn.1_Missense_Mutation_p.L97F|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.L236F|APOL1_uc011amo.1_Missense_Mutation_p.L97F|APOL1_uc011amp.1_Missense_Mutation_p.L220F|APOL1_uc011amq.1_Missense_Mutation_p.L202F|APOL1_uc010gwx.2_Missense_Mutation_p.L97F	p.L220F	NM_003661	NP_003652	O14791	APOL1_HUMAN			6	828	+			220					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	37	c.660G>C	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	g	11.62	1.694338	0.30052	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000347595;ENST00000397279	T;T;T;T;T;T	0.03717	3.83;3.83;3.83;3.83;3.83;3.83	3.42	-2.32	0.06745	.	0.296009	0.31246	N	0.007988	T	0.02533	0.0077	L	0.29908	0.895	0.09310	N	1	P;P;P	0.37176	0.586;0.586;0.531	B;B;B	0.39590	0.304;0.304;0.202	T	0.38887	-0.9640	10	0.87932	D	0	.	1.9777	0.03419	0.1295:0.3882:0.3022:0.18	.	202;220;236	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	F	220;220;202;236;99;220	ENSP00000380448:L220F;ENSP00000411507:L220F;ENSP00000388477:L202F;ENSP00000317674:L236F;ENSP00000216178:L99F;ENSP00000380449:L220F	ENSP00000317674:L236F	L	+	3	2	APOL1	34991488	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-0.133000	0.10451	-0.173000	0.10761	0.205000	0.17691	TTG		0.557	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4		NM_145343		18	126	0	0	0	0.008871	0	18	126		
MYH9	4627	broad.mit.edu	37	22	36698620	36698620	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36698620G>A	ENST00000216181.5	-	20	2723	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	831					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCACCTTGGTGAAGAGCCGCC	0.562			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NaN		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(2491-2493)TTC>TTT		myosin, heavy polypeptide 9, non-muscle							68.0	66.0	67.0					22																	36698620		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36698620G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2493C>T	22.37:g.36698620G>A						MYH9_uc003aph.1_Silent_p.F695F	p.F831F	NM_002473	NP_002464	P35579	MYH9_HUMAN			20	2724	-			831					A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.2493C>T	CCDS13927.1																																																																																				0.562	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		23	127	0	0	0	0.010818	0	23	127		
APOBEC3B	9582	broad.mit.edu	37	22	39387537	39387537	+	Silent	SNP	C	C	T	rs144471703		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:39387537C>T	ENST00000333467.3	+	6	969	c.924C>T	c.(922-924)ttC>ttT	p.F308F	APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000402182.3_Silent_p.F308F|APOBEC3B_ENST00000407298.3_Silent_p.F283F	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	308					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TGCGCATCTTCGCTGCCCGCA	0.572																																						uc003awo.1		NaN																	0				ovary(1)	1						c.(922-924)TTC>TTT		apolipoprotein B mRNA editing enzyme, catalytic		C		1,4397		0,1,2198	135.0	134.0	134.0		924	-4.0	0.0	22	dbSNP_134	134	0,8564		0,0,4282	no	coding-synonymous	APOBEC3B	NM_004900.3		0,1,6480	TT,TC,CC		0.0,0.0227,0.0077		308/383	39387537	1,12961	2199	4282	6481	SO:0001819	synonymous_variant	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39387537C>T	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.924C>T	22.37:g.39387537C>T						APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Silent_p.F283F|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	p.F308F	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN			6	978	+	Melanoma(58;0.04)		308					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Silent	SNP	ENST00000333467.3	37	c.924C>T	CCDS13982.1																																																																																				0.572	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1		NM_004900		32	173	0	0	0	0.00623	0	32	173		
EP300	2033	broad.mit.edu	37	22	41562613	41562613	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:41562613G>A	ENST00000263253.7	+	23	5036	c.3817G>A	c.(3817-3819)Gat>Aat	p.D1273N	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1273					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATTCGTCTGTGATGGCTGTTT	0.289			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(3817-3819)GAT>AAT		E1A binding protein p300							77.0	74.0	75.0					22																	41562613		2202	4296	6498	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41562613G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3817G>A	22.37:g.41562613G>A	ENSP00000263253:p.Asp1273Asn						p.D1273N	NM_001429	NP_001420	Q09472	EP300_HUMAN			23	4212	+			1273					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.3817G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802747	0.90623	.	.	ENSG00000100393	ENST00000263253	D	0.84370	-1.84	5.85	5.85	0.93711	.	0.000000	0.49916	D	0.000125	D	0.87997	0.6319	L	0.50333	1.59	0.58432	D	0.999992	D	0.59767	0.986	P	0.53266	0.722	D	0.86360	0.1716	10	0.39692	T	0.17	-12.6873	20.1518	0.98089	0.0:0.0:1.0:0.0	.	1273	Q09472	EP300_HUMAN	N	1273	ENSP00000263253:D1273N	ENSP00000263253:D1273N	D	+	1	0	EP300	39892559	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.696000	0.84270	2.769000	0.95229	0.491000	0.48974	GAT		0.289	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		3	18	0	0	0	0.009096	0	3	18		
TCF20	6942	broad.mit.edu	37	22	42606365	42606365	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:42606365G>A	ENST00000359486.3	-	1	5083	c.4947C>T	c.(4945-4947)atC>atT	p.I1649I	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Silent_p.I1649I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1649					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CAGCATTGATGATTGTACAAA	0.478																																						uc003bcj.1		NaN																	0				ovary(4)|skin(1)	5						c.(4945-4947)ATC>ATT		transcription factor 20 isoform 1							141.0	142.0	142.0					22																	42606365		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42606365G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4947C>T	22.37:g.42606365G>A						TCF20_uc003bck.1_Silent_p.I1649I|TCF20_uc003bnt.2_Silent_p.I1649I	p.I1649I	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	5081	-			1649					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.4947C>T	CCDS14033.1																																																																																				0.478	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1		NM_181492		34	146	0	0	0	0.010771	0	34	146		
CELSR1	9620	broad.mit.edu	37	22	46930976	46930976	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:46930976C>T	ENST00000262738.3	-	1	2091	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	CELSR1_ENST00000395964.1_Missense_Mutation_p.E698K|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	698	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCGCATCCTCATTCAGACGA	0.637																																						uc003bhw.1		NaN																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(2092-2094)GAG>AAG		cadherin EGF LAG seven-pass G-type receptor 1							44.0	29.0	34.0					22																	46930976		2202	4298	6500	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46930976C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2092G>A	22.37:g.46930976C>T	ENSP00000262738:p.Glu698Lys						p.E698K	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	2092	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	698			Extracellular (Potential).|Cadherin 5.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.2092G>A	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.59|18.59	3.656121|3.656121	0.67586|0.67586	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000262738;ENST00000395964|ENST00000454637	T;T|.	0.76316|.	-1.01;-1.01|.	4.51|4.51	4.51|4.51	0.55191|0.55191	Cadherin (3);Cadherin-like (1);|.	0.000000|.	0.64402|.	U|.	0.000003|.	D|D	0.88291|0.88291	0.6397|0.6397	H|H	0.97682|0.97682	4.055|4.055	0.54753|0.54753	D|D	0.999985|0.999985	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.92933|0.92933	0.6365|0.6365	10|5	0.87932|.	D|.	0|.	.|.	16.8582|16.8582	0.86011|0.86011	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	698|.	Q9NYQ6|.	CELR1_HUMAN|.	K|I	698|72	ENSP00000262738:E698K;ENSP00000379293:E698K|.	ENSP00000262738:E698K|.	E|M	-|-	1|3	0|0	CELSR1|CELSR1	45309640|45309640	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.275000|0.275000	0.26752|0.26752	5.719000|5.719000	0.68462|0.68462	2.067000|2.067000	0.61834|0.61834	0.305000|0.305000	0.20034|0.20034	GAG|ATG		0.637	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246		8	45	0	0	0	0.004482	0	8	45		
SBF1	6305	broad.mit.edu	37	22	50893737	50893737	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:50893737G>C	ENST00000390679.3	-	32	4576	c.4392C>G	c.(4390-4392)ttC>ttG	p.F1464L	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000348911.6_Missense_Mutation_p.F1465L|SBF1_ENST00000380817.3_Missense_Mutation_p.F1490L			O95248	MTMR5_HUMAN	SET binding factor 1	1464	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACGGTGGCTGAAGCGATGGC	0.642																																						uc003blh.2		NaN																	0					0						c.(4468-4470)TTC>TTG		SET binding factor 1							32.0	41.0	38.0					22																	50893737		2154	4255	6409	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50893737G>C	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4392C>G	22.37:g.50893737G>C	ENSP00000375097:p.Phe1464Leu					SBF1_uc003ble.2_5'UTR|SBF1_uc003blf.2_5'UTR|SBF1_uc011arx.1_Missense_Mutation_p.F1128L	p.F1490L	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	33	4665	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1464			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.4470C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.037305|4.037305	0.75617|0.75617	.|.	.|.	ENSG00000100241|ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679|ENST00000418590	D;D;D|.	0.96587|.	-4.06;-4.06;-4.06|.	3.84|3.84	3.84|3.84	0.44239|0.44239	Myotubularin phosphatase domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85775|0.85775	0.5775|0.5775	H|H	0.96970|0.96970	3.915|3.915	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.99|.	D;D|.	0.91635|.	0.999;0.979|.	D|D	0.88458|0.88458	0.3053|0.3053	10|5	0.87932|.	D|.	0|.	.|.	9.7547|9.7547	0.40496|0.40496	0.0978:0.0:0.9022:0.0|0.0978:0.0:0.9022:0.0	.|.	1464;1490|.	O95248;O95248-4|.	MTMR5_HUMAN;.|.	L|E	1490;1465;1500;1464|24	ENSP00000370196:F1490L;ENSP00000252027:F1465L;ENSP00000375097:F1464L|.	ENSP00000336522:F1500L|.	F|Q	-|-	3|1	2|0	SBF1|SBF1	49240603|49240603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	7.578000|7.578000	0.82498|0.82498	2.151000|2.151000	0.67156|0.67156	0.563000|0.563000	0.77884|0.77884	TTC|CAG		0.642	SBF1-201	KNOWN	basic	protein_coding	protein_coding					13	68	0	0	0	0.003163	0	13	68		
ADM2	79924	broad.mit.edu	37	22	50921131	50921131	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:50921131C>T	ENST00000395738.2	+	2	538	c.246C>T	c.(244-246)ctC>ctT	p.L82L	ADM2_ENST00000395737.1_Silent_p.L82L|ADM2_ENST00000362068.2_5'UTR	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	82					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCAGCCTCTCCGGGATGGTG	0.716																																						uc003blj.2		NaN																	0					0						c.(244-246)CTC>CTT		adrenomedullin 2 precursor							8.0	10.0	9.0					22																	50921131		2057	4088	6145	SO:0001819	synonymous_variant	79924				positive regulation of angiogenesis	extracellular region	hormone activity	g.chr22:50921131C>T	AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"""Endogenous ligands"""	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.246C>T	22.37:g.50921131C>T						ADM2_uc011ary.1_Silent_p.L82L	p.L82L	NM_024866	NP_079142	Q7Z4H4	ADM2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	511	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	82					Q3LFQ0	Silent	SNP	ENST00000395738.2	37	c.246C>T	CCDS33682.1																																																																																				0.716	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1		NM_024866		6	34	0	0	0	0.001984	0	6	34		
CHKB	1120	broad.mit.edu	37	22	51017894	51017894	+	Silent	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:51017894G>T	ENST00000406938.2	-	10	1291	c.1074C>A	c.(1072-1074)atC>atA	p.I358I	CPT1B_ENST00000312108.7_5'Flank|CPT1B_ENST00000395650.2_5'Flank|CPT1B_ENST00000440709.1_5'Flank|CPT1B_ENST00000360719.2_5'Flank|CHKB-CPT1B_ENST00000452668.1_Intron|CHKB_ENST00000463053.1_5'Flank|CHKB-CPT1B_ENST00000453634.1_Silent_p.I23I|CPT1B_ENST00000405237.3_5'Flank|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000457250.1_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	358					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	ATGCCTGGAGGATGGACCACA	0.562																																						uc003bms.2		NaN																	0					0						c.(1072-1074)ATC>ATA		choline kinase beta	Choline(DB00122)						38.0	34.0	35.0					22																	51017894		2203	4300	6503	SO:0001819	synonymous_variant	1120				phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr22:51017894G>T	AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.1074C>A	22.37:g.51017894G>T						CPT1B_uc003bmk.3_5'Flank|CPT1B_uc003bml.2_5'Flank|CPT1B_uc003bmm.2_5'Flank|CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'UTR|CHKB-CPT1B_uc003bmt.1_Silent_p.I149I|CHKB-CPT1B_uc003bmu.2_Silent_p.I237I|CHKB_uc003bmv.2_Silent_p.I358I	p.I358I	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	10	1292	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	358					A0PJM6|Q13388	Silent	SNP	ENST00000406938.2	37	c.1074C>A	CCDS14099.1																																																																																				0.562	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3		NM_005198		6	45	1	0	7.48243e-07	0.006214	7.82034e-07	6	45		
ATG7	10533	broad.mit.edu	37	3	11404346	11404346	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:11404346G>A	ENST00000354449.3	+	15	1768	c.1743G>A	c.(1741-1743)gtG>gtA	p.V581V	ATG7_ENST00000446450.2_Silent_p.V542V|ATG7_ENST00000354956.5_Silent_p.V581V	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	581					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GACTGGCCGTGATTGCAGGAG	0.488																																						uc003bwc.2		NaN																	0				central_nervous_system(1)	1						c.(1741-1743)GTG>GTA		APG7 autophagy 7-like isoform a							113.0	95.0	101.0					3																	11404346		2203	4300	6503	SO:0001819	synonymous_variant	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11404346G>A	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.1743G>A	3.37:g.11404346G>A						ATG7_uc003bwd.2_Silent_p.V581V|ATG7_uc011aum.1_Silent_p.V542V	p.V581V	NM_006395	NP_006386	O95352	ATG7_HUMAN			15	1860	+			581					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent	SNP	ENST00000354449.3	37	c.1743G>A	CCDS2605.1																																																																																				0.488	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3		NM_006395		8	73	0	0	0	0.004482	0	8	73		
NUP210	23225	broad.mit.edu	37	3	13401905	13401905	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:13401905G>A	ENST00000254508.5	-	15	2101	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	673					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGACGGCTCGAGGATCCAAG	0.562																																						uc003bxv.1		NaN																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(2017-2019)CTC>CTT		nucleoporin 210 precursor							85.0	72.0	76.0					3																	13401905		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13401905G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2019C>T	3.37:g.13401905G>A						NUP210_uc003bxx.2_Silent_p.L345L	p.L673L	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			15	2102	-	all_neural(104;0.187)		673			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.2019C>T	CCDS33704.1																																																																																				0.562	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1		NM_024923		37	40	0	0	0	0.00623	0	37	40		
SLC6A6	6533	broad.mit.edu	37	3	14509714	14509714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:14509714G>A	ENST00000454876.2	+	9	1419	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	SLC6A6_ENST00000360861.3_Missense_Mutation_p.E364K			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	364					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TGATGTGGCTGAGTCAGGTAC	0.547											OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010heg.2		NaN																	0				ovary(1)	1						c.(1090-1092)GAG>AAG		solute carrier family 6 (neurotransmitter							116.0	101.0	106.0					3																	14509714		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14509714G>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1090G>A	3.37:g.14509714G>A	ENSP00000398063:p.Glu364Lys		OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	695	SLC6A6_uc003byq.2_Missense_Mutation_p.E364K|SLC6A6_uc003byr.2_Intron	p.E364K	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN			16	1381	+			364					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.1090G>A	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	33	5.273323	0.95459	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.74737	-0.87;-0.87	4.94	4.94	0.65067	.	0.052752	0.85682	D	0.000000	T	0.79381	0.4436	L	0.45352	1.415	0.80722	D	1	P	0.44344	0.833	P	0.56216	0.794	T	0.76822	-0.2817	10	0.31617	T	0.26	.	18.1511	0.89675	0.0:0.0:1.0:0.0	.	364	P31641	SC6A6_HUMAN	K	364	ENSP00000398063:E364K;ENSP00000354107:E364K	ENSP00000354107:E364K	E	+	1	0	SLC6A6	14484718	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	2.276000	0.75962	0.411000	0.27672	GAG		0.547	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1		NM_003043		4	25	0	0	0	0.000602	0	4	25		
COLQ	8292	broad.mit.edu	37	3	15512080	15512080	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:15512080C>T	ENST00000383788.5	-	11	805	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	COLQ_ENST00000383785.2_Missense_Mutation_p.R227Q|COLQ_ENST00000383786.5_Missense_Mutation_p.R193Q|COLQ_ENST00000603808.1_Missense_Mutation_p.R227Q|COLQ_ENST00000435459.2_Missense_Mutation_p.R217Q|COLQ_ENST00000383787.2_Missense_Mutation_p.R218Q|COLQ_ENST00000383781.4_Missense_Mutation_p.R217Q	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	227	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TGTGGGTCCTCGGTGTCCTGC	0.552																																						uc003bzx.2		NaN																	0					0						c.(679-681)CGA>CAA		acetylcholinesterase collagen-like tail subunit							357.0	260.0	293.0					3																	15512080		2203	4300	6503	SO:0001583	missense	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15512080C>T	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.680G>A	3.37:g.15512080C>T	ENSP00000373298:p.Arg227Gln					COLQ_uc003bzv.2_Missense_Mutation_p.R217Q|COLQ_uc003bzz.2_Missense_Mutation_p.R218Q|COLQ_uc010heo.2_Missense_Mutation_p.R193Q|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.R86Q|COLQ_uc003cad.1_RNA	p.R227Q	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN			11	806	-			227			Collagen-like 1.		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP	ENST00000383788.5	37	c.680G>A	CCDS33709.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675289	0.88445	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383785;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786;ENST00000430319	D;D;D;D;D;D	0.94184	-3.24;-3.24;-3.24;-3.37;-3.24;-3.24	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.94218	0.8144	N	0.25957	0.775	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.87578	0.993;0.994;0.996;0.998	D	0.93035	0.6452	10	0.33141	T	0.24	-13.661	18.3522	0.90342	0.0:1.0:0.0:0.0	.	193;218;227;217	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	Q	218;217;217;227;227;217;227;193;170	ENSP00000373297:R218Q;ENSP00000373291:R217Q;ENSP00000402511:R217Q;ENSP00000373295:R227Q;ENSP00000373298:R227Q;ENSP00000373296:R193Q	ENSP00000373291:R217Q	R	-	2	0	COLQ	15487084	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.220000	0.72237	2.873000	0.98535	0.561000	0.74099	CGA		0.552	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1		NM_005677		24	83	0	0	0	0.009535	0	24	83		
DPH3	285381	broad.mit.edu	37	3	16306335	16306335	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:16306335C>T	ENST00000488423.1	-	1	144	c.49G>A	c.(49-51)Gag>Aag	p.E17K	OXNAD1_ENST00000435829.2_5'Flank|DPH3_ENST00000285082.4_5'Flank|OXNAD1_ENST00000285083.5_5'Flank|OXNAD1_ENST00000606098.1_5'Flank|OXNAD1_ENST00000605932.1_5'Flank|DPH3_ENST00000383775.4_Missense_Mutation_p.E17K	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	17					negative regulation of protein secretion (GO:0050709)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of binding (GO:0051099)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(2)	2						TCCGAGTCCTCGTCATATTGG	0.582																																						uc003cau.2		NaN																	0					0						c.(49-51)GAG>AAG		zinc finger, CSL domain containing 2 isoform 1							109.0	92.0	98.0					3																	16306335		2203	4300	6503	SO:0001583	missense	285381				negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding	cytoplasm|nucleus	metal ion binding|protein binding	g.chr3:16306335C>T	BC010181	CCDS2629.1, CCDS43058.1	3p25.1	2013-06-19	2013-06-19	2006-10-25	ENSG00000154813	ENSG00000154813			27717	protein-coding gene	gene with protein product	"""DPH3A, KTI11 homolog A (S. cerevisiae)"""	608959	"""zinc finger, CSL-type containing 2"", ""DPH3 homolog (KTI11, S. cerevisiae)"", ""DPH3, KTI11 homolog (S. cerevisiae)"""	ZCSL2		14527407, 14980502, 15485916, 16648478	Standard	NM_001047434		Approved	DESR1, DELGIP1, MGC20197, KTI11, DELGIP, DPH3A	uc003cau.3	Q96FX2	OTTHUMG00000129866	ENST00000488423.1:c.49G>A	3.37:g.16306335C>T	ENSP00000419599:p.Glu17Lys					DPH3_uc003cat.3_5'Flank|DPH3_uc003cav.2_Missense_Mutation_p.E17K|OXNAD1_uc010her.1_5'Flank|OXNAD1_uc003caw.2_5'Flank|OXNAD1_uc003cax.2_5'Flank	p.E17K	NM_206831	NP_996662	Q96FX2	DPH3_HUMAN			1	162	-			17			DPH-type.			Missense_Mutation	SNP	ENST00000488423.1	37	c.49G>A	CCDS2629.1	.	.	.	.	.	.	.	.	.	.	C	37	6.141023	0.97320	.	.	ENSG00000154813	ENST00000488423;ENST00000383775	.	.	.	5.15	5.15	0.70609	Zinc finger, DPH-type (2);	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.992	P;P	0.61201	0.885;0.851	T	0.75676	-0.3235	8	0.42905	T	0.14	-3.2415	17.5497	0.87872	0.0:1.0:0.0:0.0	.	17;17	Q96FX2-2;Q96FX2	.;DPH3_HUMAN	K	17	.	ENSP00000373285:E17K	E	-	1	0	DPH3	16281339	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.065000	0.71176	2.680000	0.91292	0.305000	0.20034	GAG		0.582	DPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252108.2		NM_206831		4	83	0	0	0	0.000602	0	4	83		
NGLY1	55768	broad.mit.edu	37	3	25805781	25805781	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:25805781G>A	ENST00000280700.5	-	3	428	c.268C>T	c.(268-270)Cct>Tct	p.P90S	NGLY1_ENST00000428257.1_Missense_Mutation_p.P90S|NGLY1_ENST00000417874.2_Missense_Mutation_p.P48S|NGLY1_ENST00000422724.2_Missense_Mutation_p.P13S|NGLY1_ENST00000396649.3_Missense_Mutation_p.P90S	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	90	PUB.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GCTTTTTTAGGAAAGATGAGA	0.373																																						uc003cdl.2		NaN																	0				breast(1)	1						c.(268-270)CCT>TCT		N-glycanase 1 isoform 1							135.0	139.0	138.0					3																	25805781		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25805781G>A	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.268C>T	3.37:g.25805781G>A	ENSP00000280700:p.Pro90Ser					NGLY1_uc010hfg.2_Missense_Mutation_p.P90S|NGLY1_uc003cdm.2_Missense_Mutation_p.P90S|NGLY1_uc011awo.1_Missense_Mutation_p.P48S|NGLY1_uc003cdk.2_RNA	p.P90S	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN			3	376	-			90			PUB.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.268C>T	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360795	0.82353	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000422724;ENST00000417874;ENST00000427041	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.31	5.97	5.1	0.69264	PUG domain (1);PUB domain (1);	0.045576	0.85682	N	0.000000	T	0.62011	0.2393	M	0.66439	2.03	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.987;1.0;1.0	D;P;D;D	0.97110	0.997;0.838;0.988;1.0	T	0.63633	-0.6593	10	0.49607	T	0.09	-12.5269	13.8777	0.63662	0.0739:0.0:0.9261:0.0	.	48;90;90;90	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	S	90;90;90;87;13;48;13	ENSP00000387430:P90S;ENSP00000280700:P90S;ENSP00000379886:P90S;ENSP00000307980:P87S;ENSP00000389888:P48S	ENSP00000280700:P90S	P	-	1	0	NGLY1	25780785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.003000	0.70701	1.529000	0.49120	0.655000	0.94253	CCT		0.373	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2				10	92	0	0	0	0.010729	0	10	92		
NEK10	152110	broad.mit.edu	37	3	27333022	27333022	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:27333022C>T	ENST00000429845.2	-	18	1791	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	NEK10_ENST00000357467.2_5'Flank|NEK10_ENST00000341435.5_Missense_Mutation_p.D477N			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	477					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCACTGATATCACGTACATAA	0.373																																						uc003cdt.1		NaN																	0				ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(1429-1431)GAT>AAT		NIMA-related kinase 10 isoform 3							111.0	94.0	99.0					3																	27333022		1568	3582	5150	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27333022C>T	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1429G>A	3.37:g.27333022C>T	ENSP00000395849:p.Asp477Asn					NEK10_uc003cds.1_5'UTR	p.D477N	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN			18	1703	-			477					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.1429G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.268075	0.95429	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	T	0.70986	-0.53	5.55	5.55	0.83447	Armadillo-like helical (1);	0.178121	0.45867	D	0.000332	T	0.70029	0.3177	L	0.47716	1.5	0.80722	D	1	P	0.36438	0.553	B	0.39185	0.293	T	0.72404	-0.4304	10	0.66056	D	0.02	.	19.5161	0.95165	0.0:1.0:0.0:0.0	.	477	Q6ZWH5	NEK10_HUMAN	N	477	ENSP00000343847:D477N	ENSP00000343847:D477N	D	-	1	0	NEK10	27308026	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.285000	0.65633	2.604000	0.88044	0.650000	0.86243	GAT		0.373	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1		NM_152534		7	36	0	0	0	0.004482	0	7	36		
FBXL2	25827	broad.mit.edu	37	3	33414612	33414612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:33414612G>A	ENST00000484457.1	+	6	410	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Missense_Mutation_p.E107K|FBXL2_ENST00000538181.1_Missense_Mutation_p.E23K|FBXL2_ENST00000507198.1_Missense_Mutation_p.E107K	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						CCGAAACATTGAACATTTGAA	0.423																																						uc003cfp.2		NaN																	0				large_intestine(1)	1						c.(319-321)GAA>AAA		F-box and leucine-rich repeat protein 2							138.0	136.0	137.0					3																	33414612		2203	4300	6503	SO:0001583	missense	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33414612G>A	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.319G>A	3.37:g.33414612G>A	ENSP00000417601:p.Glu107Lys					FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_5'UTR|FBXL2_uc011axp.1_Missense_Mutation_p.E23K|FBXL2_uc011axq.1_RNA|FBXL2_uc011axr.1_RNA|FBXL2_uc011axs.1_RNA	p.E107K	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN			6	390	+			107			LRR 2.			Missense_Mutation	SNP	ENST00000484457.1	37	c.319G>A	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	G	34	5.401342	0.96030	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000538181;ENST00000507198	T;T;T;T	0.52754	4.35;4.41;0.65;4.41	5.04	5.04	0.67666	.	0.099197	0.64402	D	0.000002	T	0.63426	0.2510	L	0.59967	1.855	0.80722	D	1	D;D	0.69078	0.997;0.996	D;P	0.75020	0.985;0.821	T	0.55412	-0.8145	10	0.20046	T	0.44	.	17.5203	0.87784	0.0:0.0:1.0:0.0	.	23;107	B4E1B8;Q9UKC9	.;FBXL2_HUMAN	K	107;107;23;107	ENSP00000417601:E107K;ENSP00000441228:E107K;ENSP00000440794:E23K;ENSP00000426163:E107K	ENSP00000408895:E107K	E	+	1	0	FBXL2	33389616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.750000	0.98875	2.740000	0.93945	0.650000	0.86243	GAA		0.423	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2		NM_012157		48	112	0	0	0	0.00361	0	48	112		
CLASP2	23122	broad.mit.edu	37	3	33558526	33558526	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:33558526C>T	ENST00000468888.2	-	35	3998	c.3952G>A	c.(3952-3954)Gaa>Aaa	p.E1318K	CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000461133.3_Missense_Mutation_p.E1077K|CLASP2_ENST00000399362.4_Missense_Mutation_p.E1317K|CLASP2_ENST00000480013.1_Missense_Mutation_p.E1097K|CLASP2_ENST00000359576.5_Missense_Mutation_p.E1309K|CLASP2_ENST00000307312.7_Missense_Mutation_p.E799K			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1098					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTGAAGTGTTCATCCCAAACA	0.363																																						uc003cfu.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(3928-3930)GAA>AAA		CLIP-associating protein 2							213.0	201.0	204.0					3																	33558526		1860	4094	5954	SO:0001583	missense	23122							g.chr3:33558526C>T	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3952G>A	3.37:g.33558526C>T	ENSP00000419974:p.Glu1318Lys					CLASP2_uc003cfs.2_Missense_Mutation_p.E517K|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.E910K	p.E1310K	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN			34	4282	-			1319					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.3928G>A		.	.	.	.	.	.	.	.	.	.	C	19.64	3.865509	0.71949	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71995	0.3406	L	0.49455	1.56	0.80722	D	1	P;D;B	0.71674	0.878;0.998;0.357	P;D;B	0.78314	0.527;0.991;0.281	T	0.64141	-0.6477	10	0.02654	T	1	-5.8646	19.7888	0.96450	0.0:1.0:0.0:0.0	.	1098;1309;1317	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	K	1318;1317;1309;799;1097;1077	ENSP00000419974:E1318K;ENSP00000382297:E1317K;ENSP00000352581:E1309K;ENSP00000304743:E799K;ENSP00000417518:E1097K;ENSP00000419305:E1077K	ENSP00000304743:E799K	E	-	1	0	CLASP2	33533530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.124000	0.77185	2.662000	0.90505	0.655000	0.94253	GAA		0.363	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4		NM_001207044		16	58	0	0	0	0.00333	0	16	58		
CSPG5	10675	broad.mit.edu	37	3	47619161	47619161	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:47619161C>T	ENST00000383738.2	-	2	2453	c.355G>A	c.(355-357)Gat>Aat	p.D119N	CSPG5_ENST00000264723.4_Missense_Mutation_p.D119N|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_5'UTR	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	119					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTGGGCATCGCCGCTGCCC	0.692																																						uc003crp.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(355-357)GAT>AAT		chondroitin sulfate proteoglycan 5 (neuroglycan							31.0	37.0	35.0					3																	47619161		2193	4287	6480	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47619161C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.355G>A	3.37:g.47619161C>T	ENSP00000373244:p.Asp119Asn					CSPG5_uc003crn.2_5'UTR|CSPG5_uc003cro.3_Missense_Mutation_p.D119N|CSPG5_uc011bbb.1_5'UTR	p.D119N	NM_006574	NP_006565	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	531	-			119			Extracellular (Potential).		Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.355G>A	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775440	0.90108	.	.	ENSG00000114646	ENST00000383738;ENST00000264723	T;T	0.50548	0.74;0.74	3.92	3.92	0.45320	Chondroitin sulphate attachment (1);	0.086056	0.45126	D	0.000391	T	0.53286	0.1787	L	0.27053	0.805	0.33250	D	0.558451	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.64719	-0.6341	10	0.66056	D	0.02	-27.6038	11.6049	0.51026	0.0:1.0:0.0:0.0	.	119;119	O95196;O95196-2	CSPG5_HUMAN;.	N	119	ENSP00000373244:D119N;ENSP00000264723:D119N	ENSP00000264723:D119N	D	-	1	0	CSPG5	47594165	0.419000	0.25449	0.998000	0.56505	0.913000	0.54294	2.246000	0.43142	2.189000	0.69895	0.579000	0.79373	GAT		0.692	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1		NM_006574		50	88	0	0	0	0.00361	0	50	88		
MAP4	4134	broad.mit.edu	37	3	47958225	47958225	+	Silent	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:47958225T>C	ENST00000360240.6	-	7	1610	c.1092A>G	c.(1090-1092)ttA>ttG	p.L364L	MAP4_ENST00000395734.3_Silent_p.L364L|MAP4_ENST00000426837.2_Silent_p.L381L|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	364	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.L364L(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGGAAGGGGCTAAGTCCATTT	0.478																																						uc003csb.2		NaN																	2	Substitution - coding silent(2)		kidney(2)	ovary(2)|pancreas(1)	3						c.(1090-1092)TTA>TTG		microtubule-associated protein 4 isoform 1							179.0	179.0	179.0					3																	47958225		2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47958225T>C		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1092A>G	3.37:g.47958225T>C						MAP4_uc003csc.3_Silent_p.L364L|MAP4_uc011bbf.1_Silent_p.L341L|MAP4_uc003csf.3_Silent_p.L381L	p.L364L	NM_002375	NP_002366	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	7	1618	-			364			26 residues 1.|17 X 14 AA tandem repeats.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.1092A>G	CCDS33750.1																																																																																				0.478	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1		NM_002375		3	119	0	0	0	0.004672	0	3	119		
IP6K2	51447	broad.mit.edu	37	3	48726994	48726994	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:48726994C>T	ENST00000328631.5	-	5	980	c.757G>A	c.(757-759)Ggt>Agt	p.G253S		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	253					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ACACGCACACCAATGACTGCA	0.547																																						uc003cup.2		NaN																	0					0						c.(757-759)GGT>AGT		inositol hexaphosphate kinase 2 isoform a							135.0	106.0	116.0					3																	48726994		2203	4300	6503	SO:0001583	missense	51447				negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:48726994C>T	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.757G>A	3.37:g.48726994C>T	ENSP00000331103:p.Gly253Ser					IP6K2_uc003cuq.2_Missense_Mutation_p.G253S	p.G253S	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN			5	1001	-			253					A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	ENST00000328631.5	37	c.757G>A	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	C	37	6.007303	0.97195	.	.	ENSG00000068745	ENST00000328631	T	0.61510	0.1	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.83968	0.5369	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87589	0.2489	10	0.87932	D	0	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	253	Q9UHH9	IP6K2_HUMAN	S	253	ENSP00000331103:G253S	ENSP00000331103:G253S	G	-	1	0	IP6K2	48701998	1.000000	0.71417	0.963000	0.40424	0.996000	0.88848	7.747000	0.85070	2.760000	0.94817	0.655000	0.94253	GGT		0.547	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2		NM_016291		25	125	0	0	0	0.003271	0	25	125		
P4HTM	54681	broad.mit.edu	37	3	49039971	49039971	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:49039971G>A	ENST00000383729.4	+	4	1037	c.666G>A	c.(664-666)atG>atA	p.M222I	P4HTM_ENST00000343546.4_Missense_Mutation_p.M222I	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	222						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GATGGTGGATGACTCCAGAGA	0.577																																						uc003cvg.2		NaN																	0				skin(1)|pancreas(1)	2						c.(664-666)ATG>ATA		hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)						209.0	193.0	198.0					3																	49039971		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49039971G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.666G>A	3.37:g.49039971G>A	ENSP00000373235:p.Met222Ile					P4HTM_uc003cvh.2_Missense_Mutation_p.M222I|P4HTM_uc010hkm.1_Missense_Mutation_p.M108I	p.M222I	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN			4	1015	+			222			Lumenal (Potential).		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.666G>A	CCDS43089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.212991|4.212991	0.79352|0.79352	.|.	.|.	ENSG00000178467|ENSG00000178467	ENST00000444213|ENST00000383729;ENST00000343546	.|T	.|0.77098	.|-1.07	5.76|5.76	5.76|5.76	0.90799|0.90799	.|EF-hand-like domain (1);Prolyl 4-hydroxylase, alpha subunit (1);	.|0.044731	.|0.85682	.|D	.|0.000000	T|T	0.82019|0.82019	0.4946|0.4946	N|N	0.24115|0.24115	0.695|0.695	0.53005|0.53005	D|D	0.999968|0.999968	.|P;D;B	.|0.53745	.|0.794;0.962;0.302	.|B;D;B	.|0.66716	.|0.31;0.946;0.107	D|D	0.83630|0.83630	0.0144|0.0144	5|10	.|0.66056	.|D	.|0.02	-30.9545|-30.9545	19.9772|19.9772	0.97314|0.97314	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|222;222;222	.|Q9NXG6-2;Q9NXG6-3;Q9NXG6	.|.;.;P4HTM_HUMAN	N|I	152|222	.|ENSP00000373235:M222I	.|ENSP00000341422:M222I	D|M	+|+	1|3	0|0	P4HTM|P4HTM	49014975|49014975	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	5.157000|5.157000	0.64911|0.64911	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	GAC|ATG		0.577	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1		NM_177938		66	222	0	0	0	0.00361	0	66	222		
SEMA3F	6405	broad.mit.edu	37	3	50214234	50214234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:50214234G>A	ENST00000002829.3	+	7	1067	c.583G>A	c.(583-585)Gag>Aag	p.E195K	SEMA3F_ENST00000434342.1_Missense_Mutation_p.E164K|SEMA3F_ENST00000413852.1_Missense_Mutation_p.E96K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	195	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TGAGCGACTCGAGTCAGGGAA	0.597																																						uc003cyj.2		NaN																	0				lung(1)|skin(1)	2						c.(583-585)GAG>AAG		semaphorin 3F precursor							158.0	136.0	143.0					3																	50214234		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50214234G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.583G>A	3.37:g.50214234G>A	ENSP00000002829:p.Glu195Lys					SEMA3F_uc003cyk.2_Missense_Mutation_p.E164K	p.E195K	NM_004186	NP_004177	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	7	781	+			195			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.583G>A	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	37	6.295037	0.97449	.	.	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000413852;ENST00000002829;ENST00000434342;ENST00000420831	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79	5.44	5.44	0.79542	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.285739	0.44285	D	0.000463	T	0.35595	0.0937	M	0.77486	2.375	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	P;D	0.65443	0.9;0.935	T	0.07385	-1.0775	10	0.87932	D	0	.	19.2326	0.93846	0.0:0.0:1.0:0.0	.	164;195	C9JQ85;Q13275	.;SEM3F_HUMAN	K	164;164;96;195;164;128	ENSP00000392588:E164K;ENSP00000398399:E164K;ENSP00000388931:E96K;ENSP00000002829:E195K;ENSP00000409859:E164K;ENSP00000416356:E128K	ENSP00000002829:E195K	E	+	1	0	SEMA3F	50189238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.411000	0.97342	2.712000	0.92718	0.561000	0.74099	GAG		0.597	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1		NM_004186		19	263	0	0	0	0.004656	0	19	263		
HYAL3	8372	broad.mit.edu	37	3	50331093	50331093	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:50331093G>C	ENST00000336307.1	-	3	1226	c.954C>G	c.(952-954)ctC>ctG	p.L318L	IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000336089.4_5'Flank|HYAL3_ENST00000513170.1_Intron|IFRD2_ENST00000417626.2_5'Flank|IFRD2_ENST00000436390.1_5'Flank|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Silent_p.L69L|IFRD2_ENST00000429673.2_5'Flank	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	318					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGTCCCCCCAGAGCACCACGC	0.632																																						uc003czd.1		NaN																	0				ovary(1)	1						c.(952-954)CTC>CTG		hyaluronoglucosaminidase 3 precursor							84.0	86.0	85.0					3																	50331093		2203	4300	6503	SO:0001819	synonymous_variant	8372				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	g.chr3:50331093G>C	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.954C>G	3.37:g.50331093G>C						HYAL3_uc003czc.1_Intron|HYAL3_uc003cze.1_Silent_p.L69L|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|IFRD2_uc011bdp.1_5'Flank|IFRD2_uc003czb.2_5'Flank	p.L318L	NM_003549	NP_003540	O43820	HYAL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	1227	-			318					O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Silent	SNP	ENST00000336307.1	37	c.954C>G	CCDS2815.1																																																																																				0.632	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1		NM_003549		56	169	0	0	0	0.00361	0	56	169		
STAB1	23166	broad.mit.edu	37	3	52557550	52557550	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:52557550C>T	ENST00000321725.6	+	65	7324	c.7248C>T	c.(7246-7248)atC>atT	p.I2416I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2416	FAS1 7. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCAGCCTCATCATCAGTGACG	0.647																																						uc003dej.2		NaN																	0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(7246-7248)ATC>ATT		stabilin 1 precursor							54.0	60.0	58.0					3																	52557550		2202	4300	6502	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52557550C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.7248C>T	3.37:g.52557550C>T						STAB1_uc003dek.1_Silent_p.I431I|STAB1_uc003del.2_Silent_p.I303I	p.I2416I	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	65	7322	+			2416			Extracellular (Potential).|FAS1 7.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.7248C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	5.839	0.338976	0.11069	.	.	ENSG00000010327	ENST00000469989	.	.	.	5.79	0.797	0.18654	.	.	.	.	.	T	0.21427	0.0516	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22800	-1.0206	4	.	.	.	.	2.1454	0.03786	0.1368:0.5078:0.1325:0.2228	.	.	.	.	Y	58	.	.	H	+	1	0	STAB1	52532590	0.001000	0.12720	0.000000	0.03702	0.038000	0.13279	0.032000	0.13732	-0.131000	0.11578	-0.379000	0.06801	CAT		0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2		NM_015136		17	57	0	0	0	0.010504	0	17	57		
CACNA1D	776	broad.mit.edu	37	3	53844150	53844150	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:53844150C>G	ENST00000350061.5	+	47	6528	c.6017C>G	c.(6016-6018)tCa>tGa	p.S2006*	CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.S2026*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.S1982*	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2006					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGGAGCAGTCAGAGGCCCTG	0.657																																						uc003dgv.3		NaN																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(6016-6018)TCA>TGA		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						53.0	51.0	52.0					3																	53844150		2203	4300	6503	SO:0001587	stop_gained	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53844150C>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6017C>G	3.37:g.53844150C>G	ENSP00000288133:p.Ser2006*					CACNA1D_uc003dgu.3_Nonsense_Mutation_p.S2026*|CACNA1D_uc003dgy.3_Nonsense_Mutation_p.S1982*|CACNA1D_uc003dgw.3_Nonsense_Mutation_p.S1673*|CACNA1D_uc011bes.1_RNA	p.S2006*	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	47	6180	+			2006			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	ENST00000350061.5	37	c.6017C>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	46	12.407122	0.99665	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.	.	.	5.34	4.46	0.54185	.	0.671040	0.12872	N	0.432218	.	.	.	.	.	.	0.41275	D	0.986872	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	12.3933	0.55370	0.0:0.9217:0.0:0.0783	.	.	.	.	X	2006;2026;1982;1699	.	ENSP00000288139:S2026X	S	+	2	0	CACNA1D	53819190	.	.	0.081000	0.20488	0.927000	0.56198	.	.	1.389000	0.46526	0.557000	0.71058	TCA		0.657	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1		NM_000720		6	83	0	0	0	0.001984	0	6	83		
CCDC66	285331	broad.mit.edu	37	3	56657229	56657229	+	IGR	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:56657229G>C	ENST00000394672.3	+	0	3096				FAM208A_ENST00000355628.5_Missense_Mutation_p.Q1556E|FAM208A_ENST00000485156.1_5'UTR|FAM208A_ENST00000431842.2_Missense_Mutation_p.Q1180E|FAM208A_ENST00000493960.2_3'UTR	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66						post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AAAAATGTCTGATGAGTGAGA	0.333																																						uc003did.3		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(4666-4668)CAG>GAG		retinoblastoma-associated protein 140 isoform b							95.0	94.0	94.0					3																	56657229		2203	4300	6503	SO:0001628	intergenic_variant	23272							g.chr3:56657229G>C	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748		3.37:g.56657229G>C						C3orf63_uc003dib.3_Missense_Mutation_p.Q675E|C3orf63_uc003dic.3_Missense_Mutation_p.Q1180E|C3orf63_uc003die.3_3'UTR	p.Q1556E	NM_015224	NP_056039	Q9UK61	CC063_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)	23	4767	-			1617					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.4666C>G	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508270	0.64410	.	.	ENSG00000163946	ENST00000431842;ENST00000355628	T;T	0.22743	1.94;2.12	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000004	T	0.51601	0.1684	.	.	.	0.40473	D	0.980367	D;D;D	0.71674	0.998;0.99;0.982	D;D;D	0.80764	0.994;0.979;0.952	T	0.52682	-0.8543	9	0.87932	D	0	-9.3885	20.3495	0.98807	0.0:0.0:1.0:0.0	.	1556;1180;1617	Q9UK61-4;Q9UK61-2;Q9UK61	.;.;F208A_HUMAN	E	1180;1556	ENSP00000399410:Q1180E;ENSP00000347845:Q1556E	ENSP00000347845:Q1556E	Q	-	1	0	C3orf63	56632269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.814000	0.96858	0.591000	0.81541	CAG		0.333	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1		NM_001012506		6	46	0	0	0	0.001984	0	6	46		
CADM2	253559	broad.mit.edu	37	3	85961684	85961684	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:85961684G>C	ENST00000407528.2	+	5	726	c.664G>C	c.(664-666)Gaa>Caa	p.E222Q	CADM2_ENST00000405615.2_Missense_Mutation_p.E224Q|CADM2_ENST00000383699.3_Missense_Mutation_p.E231Q	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	222					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GCAGGTGCTAGAAATACACTG	0.468																																						uc003dqj.2		NaN																	0				ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(664-666)GAA>CAA		immunoglobulin superfamily, member 4D							101.0	89.0	93.0					3																	85961684		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85961684G>C	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.664G>C	3.37:g.85961684G>C	ENSP00000384575:p.Glu222Gln					CADM2_uc003dqk.2_Missense_Mutation_p.E231Q|CADM2_uc003dql.2_Missense_Mutation_p.E224Q	p.E222Q	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	5	1290	+		Lung NSC(201;0.0148)	222			Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.664G>C	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485173	0.84854	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	D;D;D	0.86230	-2.09;-2.09;-2.09	5.5	5.5	0.81552	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92328	0.7566	M	0.64170	1.965	0.80722	D	1	P;D;D	0.76494	0.537;0.999;0.999	B;D;D	0.73708	0.32;0.981;0.957	D	0.90501	0.4474	10	0.32370	T	0.25	.	19.3937	0.94596	0.0:0.0:1.0:0.0	.	224;231;222	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	Q	231;222;224	ENSP00000373200:E231Q;ENSP00000384575:E222Q;ENSP00000384193:E224Q	ENSP00000373200:E231Q	E	+	1	0	CADM2	86044374	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.261000	0.95576	2.583000	0.87209	0.591000	0.81541	GAA		0.468	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1		NM_153184		7	60	0	0	0	0.004482	0	7	60		
OR5K4	403278	broad.mit.edu	37	3	98073347	98073347	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:98073347C>G	ENST00000354924.2	+	1	650	c.650C>G	c.(649-651)tCt>tGt	p.S217C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GTCTTGATCTCTTATCTCTGC	0.353																																						uc011bgv.1		NaN																	0				central_nervous_system(1)	1						c.(649-651)TCT>TGT		olfactory receptor, family 5, subfamily K,							91.0	87.0	88.0					3																	98073347		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073347C>G		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.650C>G	3.37:g.98073347C>G	ENSP00000347003:p.Ser217Cys						p.S217C	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			1	650	+			217			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000354924.2	37	c.650C>G	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407000	0.42715	.	.	ENSG00000196098	ENST00000354924	T	0.38722	1.12	5.06	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32430	U	0.006108	T	0.75488	0.3856	H	0.97659	4.05	0.36166	D	0.848412	D	0.89917	1.0	D	0.80764	0.994	D	0.87546	0.2462	10	0.87932	D	0	-50.195	13.639	0.62239	0.0:0.8435:0.1565:0.0	.	217	A6NMS3	OR5K4_HUMAN	C	217	ENSP00000347003:S217C	ENSP00000347003:S217C	S	+	2	0	OR5K4	99556037	0.948000	0.32251	0.999000	0.59377	0.220000	0.24768	5.279000	0.65597	1.473000	0.48159	0.603000	0.83216	TCT		0.353	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1				3	22	0	0	0	0.004672	0	3	22		
NXPE3	91775	broad.mit.edu	37	3	101520284	101520284	+	Missense_Mutation	SNP	G	G	A	rs377253159		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:101520284G>A	ENST00000491511.2	+	5	1255	c.299G>A	c.(298-300)aGc>aAc	p.S100N	NXPE3_ENST00000477909.1_Missense_Mutation_p.S100N|NXPE3_ENST00000273347.5_Missense_Mutation_p.S100N|NXPE3_ENST00000422132.1_Missense_Mutation_p.S100N	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	100						extracellular region (GO:0005576)											TTTGTGAAGAGCACTGACCCT	0.557																																						uc003dvn.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(298-300)AGC>AAC		hypothetical protein LOC91775 precursor							99.0	87.0	91.0					3																	101520284		2203	4300	6503	SO:0001583	missense	91775					extracellular region		g.chr3:101520284G>A	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.299G>A	3.37:g.101520284G>A	ENSP00000417485:p.Ser100Asn					FAM55C_uc010hpn.2_Missense_Mutation_p.S100N	p.S100N	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN			5	936	+			100					A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	c.299G>A	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467785	0.84533	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.67	5.67	0.87782	Immunoglobulin E-set (1);	0.072360	0.85682	D	0.000000	T	0.42245	0.1194	M	0.83603	2.65	0.53005	D	0.999961	D	0.67145	0.996	D	0.67725	0.953	T	0.12528	-1.0544	10	0.39692	T	0.17	-20.7354	20.1421	0.98061	0.0:0.0:1.0:0.0	.	100	Q969Y0	FA55C_HUMAN	N	100	ENSP00000273347:S100N;ENSP00000417485:S100N;ENSP00000418369:S100N;ENSP00000396421:S100N	ENSP00000273347:S100N	S	+	2	0	FAM55C	103002974	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.993000	0.76245	2.836000	0.97738	0.655000	0.94253	AGC		0.557	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2		NM_145037		11	73	0	0	0	0.001855	0	11	73		
PHLDB2	90102	broad.mit.edu	37	3	111603754	111603754	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:111603754C>G	ENST00000431670.2	+	2	1241	c.830C>G	c.(829-831)tCt>tGt	p.S277C	PHLDB2_ENST00000412622.1_Missense_Mutation_p.S277C|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S277C|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S277C|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S277C|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S304C|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S277C	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	277						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCAAGAAACTCTCTGGGCAAT	0.473																																						uc010hqa.2		NaN																	0				ovary(4)|skin(2)	6						c.(829-831)TCT>TGT		pleckstrin homology-like domain, family B,							55.0	54.0	54.0					3																	111603754		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603754C>G		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.830C>G	3.37:g.111603754C>G	ENSP00000405405:p.Ser277Cys					PHLDB2_uc003dyc.2_Missense_Mutation_p.S304C|PHLDB2_uc003dyd.2_Missense_Mutation_p.S277C|PHLDB2_uc003dyg.2_Missense_Mutation_p.S277C|PHLDB2_uc003dyh.2_Missense_Mutation_p.S277C|PHLDB2_uc003dye.3_Missense_Mutation_p.S277C|PHLDB2_uc003dyf.3_Missense_Mutation_p.S277C	p.S277C	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			2	1241	+			277					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.830C>G	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750840	0.69533	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.52754	0.65;0.8;0.67;1.03;0.8;0.67	5.4	5.4	0.78164	.	0.250984	0.42682	D	0.000675	T	0.64549	0.2608	L	0.53249	1.67	0.41391	D	0.987617	D;D;D;D;D	0.89917	0.98;1.0;1.0;0.989;0.995	B;D;D;P;P	0.73380	0.436;0.977;0.98;0.723;0.847	T	0.66296	-0.5959	10	0.72032	D	0.01	.	16.4564	0.84019	0.0:1.0:0.0:0.0	.	277;277;277;277;304	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	C	304;304;277;277;277;277;277;277;277	ENSP00000377500:S304C;ENSP00000405405:S277C;ENSP00000405292:S277C;ENSP00000418296:S277C;ENSP00000377502:S277C;ENSP00000418319:S277C	ENSP00000352764:S304C	S	+	2	0	PHLDB2	113086444	1.000000	0.71417	0.615000	0.29064	0.998000	0.95712	5.387000	0.66243	2.703000	0.92315	0.655000	0.94253	TCT		0.473	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1		NM_145753		8	21	0	0	0	0.006214	0	8	21		
CFAP44	55779	broad.mit.edu	37	3	113128161	113128161	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:113128161C>T	ENST00000295868.2	-	7	844	c.682G>A	c.(682-684)Gag>Aag	p.E228K	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.E228K|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2												p.E228Q(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TATCCCTTCTCAGTCCCATCT	0.398																																						uc003eae.1		NaN																	1	Substitution - Missense(1)		breast(1)	central_nervous_system(1)	1						c.(682-684)GAG>AAG		WD repeat domain 52 isoform 2							88.0	83.0	85.0					3																	113128161		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113128161C>T																												ENST00000295868.2:c.682G>A	3.37:g.113128161C>T	ENSP00000295868:p.Glu228Lys						p.E228K	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			7	728	-			228			WD 1.			Missense_Mutation	SNP	ENST00000295868.2	37	c.682G>A	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052599	0.55218	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.06294	5.04;3.32	6.04	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.06462	0.0166	L	0.31420	0.93	0.80722	D	1	B	0.22983	0.078	B	0.23275	0.045	T	0.29912	-0.9996	9	0.44086	T	0.13	.	12.9907	0.58616	0.0:0.8667:0.0:0.1333	.	228	Q96MT7	WDR52_HUMAN	K	228	ENSP00000377428:E228K;ENSP00000295868:E228K	ENSP00000295868:E228K	E	-	1	0	WDR52	114610851	0.985000	0.35326	0.904000	0.35570	0.947000	0.59692	2.781000	0.47750	1.561000	0.49584	0.563000	0.77884	GAG		0.398	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3				5	33	0	0	0	0.001984	0	5	33		
LSAMP	4045	broad.mit.edu	37	3	115560818	115560818	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:115560818C>G	ENST00000490035.2	-	6	1292	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.E262Q	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	265	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTCTTAATCTCAAGGCCATTG	0.483																																						uc003ebt.2		NaN																	0					0						c.(793-795)GAG>CAG		limbic system-associated membrane protein							95.0	85.0	88.0					3																	115560818		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115560818C>G	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.793G>C	3.37:g.115560818C>G	ENSP00000419000:p.Glu265Gln					LSAMP_uc011bis.1_Missense_Mutation_p.E265Q	p.E265Q	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	6	1293	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	265			Ig-like C2-type 3.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.793G>C	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146925	0.77888	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.66638	-0.22;-0.22;-0.22	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098261	0.64402	D	0.000001	T	0.66528	0.2798	L	0.31065	0.9	0.45914	D	0.998754	D;B	0.53312	0.959;0.298	P;B	0.50049	0.629;0.166	T	0.64188	-0.6466	10	0.37606	T	0.19	-11.3279	20.206	0.98277	0.0:1.0:0.0:0.0	.	265;265	B2RCU8;Q13449	.;LSAMP_HUMAN	Q	249;265;262	ENSP00000328455:E249Q;ENSP00000419000:E265Q;ENSP00000443429:E262Q	ENSP00000328455:E249Q	E	-	1	0	LSAMP	117043508	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.093000	0.41710	2.785000	0.95823	0.655000	0.94253	GAG		0.483	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4		NM_002338		6	51	0	0	0	0.00308	0	6	51		
FSTL1	11167	broad.mit.edu	37	3	120128498	120128498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:120128498G>A	ENST00000295633.3	-	6	699	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	FSTL1_ENST00000424703.2_Nonsense_Mutation_p.Q80*	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	115					BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		CGGTTGGACTGATAGCAAACA	0.542																																						uc003eds.2		NaN																	0				central_nervous_system(1)	1						c.(343-345)CAG>TAG		follistatin-like 1 precursor							80.0	74.0	76.0					3																	120128498		2203	4300	6503	SO:0001587	stop_gained	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120128498G>A	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.343C>T	3.37:g.120128498G>A	ENSP00000295633:p.Gln115*					FSTL1_uc011bjh.1_Nonsense_Mutation_p.Q80*	p.Q115*	NM_007085	NP_009016	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	6	518	-			115					A8K523|B4DTT5|D3DN90|Q549Z0	Nonsense_Mutation	SNP	ENST00000295633.3	37	c.343C>T	CCDS2998.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162814	0.94727	.	.	ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703;ENST00000469005	.	.	.	5.67	5.67	0.87782	.	0.235047	0.45126	D	0.000400	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-21.611	18.7612	0.91851	0.0:0.0:1.0:0.0	.	.	.	.	X	115;58;80;115	.	ENSP00000295633:Q115X	Q	-	1	0	FSTL1	121611188	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.714000	0.61902	2.677000	0.91161	0.655000	0.94253	CAG		0.542	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1		NM_007085		13	52	0	0	0	0.006122	0	13	52		
HSPBAP1	79663	broad.mit.edu	37	3	122459618	122459618	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:122459618C>T	ENST00000306103.2	-	8	1184	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	347						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CATCTGTTCTCAGTGCTTGGA	0.448																																						uc003efu.1		NaN																	0				ovary(1)|lung(1)	2						c.(1039-1041)CTG>CTA		Hspb associated protein 1							193.0	180.0	184.0					3																	122459618		2203	4300	6503	SO:0001819	synonymous_variant	79663					cytoplasm		g.chr3:122459618C>T	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1041G>A	3.37:g.122459618C>T						HSPBAP1_uc003eft.1_Silent_p.L58L	p.L347L	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1164	-			347					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Silent	SNP	ENST00000306103.2	37	c.1041G>A	CCDS3017.1																																																																																				0.448	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1		NM_024610		21	152	0	0	0	0.00278	0	21	152		
SEMA5B	54437	broad.mit.edu	37	3	122667551	122667551	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:122667551G>A	ENST00000357599.3	-	3	516	c.130C>T	c.(130-132)Ctc>Ttc	p.L44F	SEMA5B_ENST00000195173.4_Missense_Mutation_p.L44F|SEMA5B_ENST00000451055.2_Missense_Mutation_p.L98F|SEMA5B_ENST00000465147.1_5'UTR	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	44					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGACAGGGGAGAAGACCTGCA	0.592																																						uc003efz.1		NaN																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(130-132)CTC>TTC		semaphorin 5B isoform 1							29.0	29.0	29.0					3																	122667551		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122667551G>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.130C>T	3.37:g.122667551G>A	ENSP00000350215:p.Leu44Phe					SEMA5B_uc011bju.1_5'UTR|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.L44F|SEMA5B_uc010hro.1_5'UTR|SEMA5B_uc010hrp.1_RNA	p.L44F	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	3	434	-			44			Extracellular (Potential).		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.130C>T	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	4.663	0.123240	0.08931	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000451055;ENST00000393583;ENST00000421053;ENST00000449546	T;T;T;T	0.35973	1.31;1.28;1.34;1.41	4.7	3.8	0.43715	.	.	.	.	.	T	0.21387	0.0515	N	0.08118	0	0.09310	N	1	B	0.22480	0.07	B	0.28011	0.085	T	0.21690	-1.0238	9	0.37606	T	0.19	.	10.1261	0.42649	0.0:0.0:0.7854:0.2146	.	44	Q9P283	SEM5B_HUMAN	F	44;44;98;44;44;44	ENSP00000350215:L44F;ENSP00000195173:L44F;ENSP00000389588:L98F;ENSP00000377208:L44F	ENSP00000195173:L44F	L	-	1	0	SEMA5B	124150241	0.859000	0.29813	0.074000	0.20217	0.021000	0.10359	1.955000	0.40372	1.294000	0.44707	0.655000	0.94253	CTC		0.592	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1		NM_001031702		5	46	0	0	0	0.001168	0	5	46		
ADCY5	111	broad.mit.edu	37	3	123014973	123014973	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:123014973C>T	ENST00000462833.1	-	17	4233	c.3021G>A	c.(3019-3021)caG>caA	p.Q1007Q	ADCY5_ENST00000491190.1_Silent_p.Q665Q|ADCY5_ENST00000309879.5_Silent_p.Q657Q	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1007					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGGACTCCACCTGCTGGGCGT	0.632																																						uc003egh.1		NaN																	0				ovary(4)	4						c.(3019-3021)CAG>CAA		adenylate cyclase 5							93.0	79.0	83.0					3																	123014973		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123014973C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3021G>A	3.37:g.123014973C>T						ADCY5_uc003egg.1_Silent_p.Q665Q	p.Q1007Q	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	17	3021	-			1007			Cytoplasmic (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.3021G>A	CCDS3022.1																																																																																				0.632	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4		XM_171048		19	126	0	0	0	0.00278	0	19	126		
KALRN	8997	broad.mit.edu	37	3	124181431	124181431	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:124181431G>C	ENST00000240874.3	+	25	4133	c.3976G>C	c.(3976-3978)Gag>Cag	p.E1326Q	KALRN_ENST00000360013.3_Missense_Mutation_p.E1326Q|KALRN_ENST00000460856.1_Missense_Mutation_p.E1317Q	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1326	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.		E -> D (in dbSNP:rs2289838).		apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTCAATAAAGAGCATATCAT	0.473																																						uc003ehg.2		NaN																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(3976-3978)GAG>CAG		kalirin, RhoGEF kinase isoform 1							90.0	83.0	85.0					3																	124181431		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124181431G>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3976G>C	3.37:g.124181431G>C	ENSP00000240874:p.Glu1326Gln					KALRN_uc010hrv.1_Missense_Mutation_p.E1317Q|KALRN_uc003ehf.1_Missense_Mutation_p.E1326Q|KALRN_uc011bjy.1_Missense_Mutation_p.E1317Q|KALRN_uc003ehh.1_Missense_Mutation_p.E672Q	p.E1326Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			25	4103	+			1326			DH 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.3976G>C	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.143540|5.143540	0.94603|0.94603	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|T	0.62941|0.63417	-0.01;-0.01;-0.01|-0.04	5.19|5.19	5.19|5.19	0.71726|0.71726	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70159|0.70159	0.3192|0.3192	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.61080|.	0.989;0.577;0.963;0.987|.	P;P;D;P|.	0.64877|.	0.894;0.622;0.93;0.829|.	T|T	0.72459|0.72459	-0.4287|-0.4287	10|7	0.51188|0.87932	T|D	0.08|0	.|.	18.9025|18.9025	0.92448|0.92448	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1317;672;1326;1326|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	Q|N	1317;1326;1326|1294	ENSP00000418611:E1317Q;ENSP00000240874:E1326Q;ENSP00000353109:E1326Q|ENSP00000346122:K1294N	ENSP00000240874:E1326Q|ENSP00000346122:K1294N	E|K	+|+	1|3	0|2	KALRN|KALRN	125664121|125664121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.633000|9.633000	0.98432|0.98432	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GAG|AAG		0.473	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4		NM_003947		5	42	0	0	0	0.004482	0	5	42		
KALRN	8997	broad.mit.edu	37	3	124211637	124211637	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:124211637G>A	ENST00000240874.3	+	32	4891	c.4734G>A	c.(4732-4734)gtG>gtA	p.V1578V	KALRN_ENST00000360013.3_Silent_p.V1578V|KALRN_ENST00000460856.1_Silent_p.V1569V	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1578	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTCGAGAAGTGATTCAAGAAA	0.468																																						uc003ehg.2		NaN																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(4732-4734)GTG>GTA		kalirin, RhoGEF kinase isoform 1							125.0	129.0	128.0					3																	124211637		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124211637G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4734G>A	3.37:g.124211637G>A						KALRN_uc010hrv.1_Silent_p.V1569V|KALRN_uc003ehf.1_Silent_p.V1578V|KALRN_uc011bjy.1_Silent_p.V1569V	p.V1578V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			32	4861	+			1578			PH 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.4734G>A	CCDS3027.1																																																																																				0.468	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4		NM_003947		7	87	0	0	0	0.004482	0	7	87		
UMPS	7372	broad.mit.edu	37	3	124456651	124456651	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:124456651C>T	ENST00000232607.2	+	3	653	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	UMPS_ENST00000413078.2_Missense_Mutation_p.L5F|UMPS_ENST00000536109.1_Missense_Mutation_p.L91F|UMPS_ENST00000538242.1_Missense_Mutation_p.L5F|UMPS_ENST00000498715.1_3'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	183	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	GCTGGAGATTCTCGAGCAGCA	0.498																																						uc003ehl.3		NaN																	0				kidney(1)	1						c.(547-549)CTC>TTC		uridine monophosphate synthase							83.0	77.0	79.0					3																	124456651		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124456651C>T		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.547C>T	3.37:g.124456651C>T	ENSP00000232607:p.Leu183Phe					UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Intron|UMPS_uc011bkb.1_Missense_Mutation_p.L91F|UMPS_uc011bkc.1_Missense_Mutation_p.L5F|UMPS_uc003ehn.3_Missense_Mutation_p.L5F|UMPS_uc011bkd.1_Missense_Mutation_p.L5F	p.L183F	NM_000373	NP_000364	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	3	653	+			183			OPRTase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.547C>T	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020805	0.75275	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242;ENST00000413078	T;T;T;T	0.75367	-0.93;-0.93;-0.03;-0.25	5.65	5.65	0.86999	.	0.071730	0.56097	D	0.000024	D	0.90943	0.7153	H	0.96239	3.79	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	D	0.92995	0.6418	10	0.87932	D	0	-10.0665	18.0832	0.89449	0.0:1.0:0.0:0.0	.	5;183	B5LY72;P11172	.;UMPS_HUMAN	F	183;91;5;5	ENSP00000232607:L183F;ENSP00000443577:L91F;ENSP00000444988:L5F;ENSP00000397965:L5F	ENSP00000232607:L183F	L	+	1	0	UMPS	125939341	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.821000	0.55700	2.941000	0.99782	0.655000	0.94253	CTC		0.498	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1		NM_000373		7	33	0	0	0	0.006214	0	7	33		
UMPS	7372	broad.mit.edu	37	3	124456779	124456779	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:124456779C>G	ENST00000232607.2	+	3	781	c.675C>G	c.(673-675)ctC>ctG	p.L225L	UMPS_ENST00000413078.2_Silent_p.L47L|UMPS_ENST00000536109.1_Silent_p.L133L|UMPS_ENST00000538242.1_Silent_p.L47L|UMPS_ENST00000498715.1_3'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	225	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	CCAAAGAACTCAGCTTCGGTG	0.483																																						uc003ehl.3		NaN																	0				kidney(1)	1						c.(673-675)CTC>CTG		uridine monophosphate synthase							95.0	89.0	91.0					3																	124456779		2203	4300	6503	SO:0001819	synonymous_variant	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124456779C>G		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.675C>G	3.37:g.124456779C>G						UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Silent_p.L47L|UMPS_uc011bkb.1_Silent_p.L133L|UMPS_uc011bkc.1_Silent_p.L47L|UMPS_uc003ehn.3_Silent_p.L47L|UMPS_uc011bkd.1_Silent_p.L47L	p.L225L	NM_000373	NP_000364	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	3	781	+			225			OMPdecase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Silent	SNP	ENST00000232607.2	37	c.675C>G	CCDS3029.1																																																																																				0.483	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1		NM_000373		4	32	0	0	0	0.000602	0	4	32		
UMPS	7372	broad.mit.edu	37	3	124456864	124456864	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:124456864C>T	ENST00000232607.2	+	3	866	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	UMPS_ENST00000413078.2_Silent_p.L76L|UMPS_ENST00000536109.1_Silent_p.L162L|UMPS_ENST00000538242.1_Silent_p.L76L|UMPS_ENST00000498715.1_3'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	254	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	GGAGACCAATCTGTGTCTATC	0.488																																						uc003ehl.3		NaN																	0				kidney(1)	1						c.(760-762)CTG>TTG		uridine monophosphate synthase							137.0	122.0	127.0					3																	124456864		2203	4300	6503	SO:0001819	synonymous_variant	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124456864C>T		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.760C>T	3.37:g.124456864C>T						UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Silent_p.L76L|UMPS_uc011bkb.1_Silent_p.L162L|UMPS_uc011bkc.1_Silent_p.L76L|UMPS_uc003ehn.3_Silent_p.L76L|UMPS_uc011bkd.1_Silent_p.L76L	p.L254L	NM_000373	NP_000364	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	3	866	+			254			OMPdecase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Silent	SNP	ENST00000232607.2	37	c.760C>T	CCDS3029.1																																																																																				0.488	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1		NM_000373		9	74	0	0	0	0.001368	0	9	74		
CCDC37	348807	broad.mit.edu	37	3	126135240	126135240	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:126135240C>T	ENST00000352312.1	+	5	406	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CCDC37_ENST00000505024.1_Missense_Mutation_p.R103W|CCDC37_ENST00000393425.1_Missense_Mutation_p.R103W	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	103										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CACCAGCCTGCGGCGGCAGCT	0.662																																						uc003eiu.1		NaN																	0				ovary(1)|skin(1)	2						c.(307-309)CGG>TGG		coiled-coil domain containing 37							28.0	27.0	27.0					3																	126135240		2184	4264	6448	SO:0001583	missense	348807							g.chr3:126135240C>T	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.307C>T	3.37:g.126135240C>T	ENSP00000344749:p.Arg103Trp					CCDC37_uc010hsg.1_Missense_Mutation_p.R103W	p.R103W	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	5	406	+			103			Potential.		D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.307C>T	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455451	0.43634	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.36520	1.25;1.33;1.33	4.59	4.59	0.56863	.	0.214881	0.34314	N	0.004072	T	0.54367	0.1854	M	0.65498	2.005	0.20074	N	0.999935	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.828	T	0.50056	-0.8872	10	0.87932	D	0	-19.2008	12.8856	0.58042	0.0:1.0:0.0:0.0	.	103;103	Q494V2-2;Q494V2	.;CCD37_HUMAN	W	103	ENSP00000344749:R103W;ENSP00000377076:R103W;ENSP00000423046:R103W	ENSP00000344749:R103W	R	+	1	2	CCDC37	127617930	0.528000	0.26314	0.876000	0.34364	0.009000	0.06853	1.603000	0.36794	2.102000	0.63906	0.491000	0.48974	CGG		0.662	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4		NM_182628		7	68	0	0	0	0.006214	0	7	68		
ZXDC	79364	broad.mit.edu	37	3	126193835	126193835	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:126193835C>G	ENST00000389709.3	-	1	927	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	ZXDC_ENST00000336332.5_Missense_Mutation_p.E292Q	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	292					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CGCTCGGGCTCGAAGTGGCTG	0.687																																						uc003eiv.2		NaN																	0				ovary(1)	1						c.(874-876)GAG>CAG		ZXD family zinc finger C isoform 1							11.0	14.0	13.0					3																	126193835		2179	4292	6471	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126193835C>G	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.874G>C	3.37:g.126193835C>G	ENSP00000374359:p.Glu292Gln					ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.E292Q	p.E292Q	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	928	-			292					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.874G>C	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404855	0.83230	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.29142	1.58;1.58	3.82	2.9	0.33743	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.063315	0.64402	N	0.000009	T	0.33673	0.0871	N	0.25825	0.765	0.54753	D	0.999985	P;D	0.53619	0.952;0.961	P;P	0.57502	0.728;0.822	T	0.03630	-1.1018	10	0.45353	T	0.12	-17.8723	10.9509	0.47327	0.0:0.8073:0.1926:0.0	.	292;292	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	Q	292	ENSP00000374359:E292Q;ENSP00000337694:E292Q	ENSP00000337694:E292Q	E	-	1	0	ZXDC	127676525	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.065000	0.49994	0.673000	0.31224	0.313000	0.20887	GAG		0.687	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2		NM_025112		2	11	0	0	0	0.004672	0	2	11		
COPG1	22820	broad.mit.edu	37	3	128991687	128991687	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:128991687C>G	ENST00000314797.6	+	21	2300	c.2196C>G	c.(2194-2196)gtC>gtG	p.V732V		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	732	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										AGTTCACTGTCAAGGACTGTG	0.547																																						uc003els.2		NaN																	0				ovary(3)|breast(1)	4						c.(2194-2196)GTC>GTG		coatomer protein complex, subunit gamma 1							185.0	154.0	165.0					3																	128991687		2203	4300	6503	SO:0001819	synonymous_variant	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128991687C>G	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.2196C>G	3.37:g.128991687C>G						COPG_uc010htb.2_Silent_p.V638V	p.V732V	NM_016128	NP_057212	Q9Y678	COPG_HUMAN			21	2296	+			732			Interaction with ZNF289/ARFGAP2.		A8K6M8|B3KMF6|Q54AC4	Silent	SNP	ENST00000314797.6	37	c.2196C>G	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	.	7.934	0.741363	0.15642	.	.	ENSG00000181789	ENST00000509889	.	.	.	5.91	1.95	0.26073	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.9162	3.5816	0.07955	0.2783:0.3734:0.2708:0.0775	.	.	.	.	X	46	.	.	S	+	2	0	COPG	130474377	0.897000	0.30589	0.995000	0.50966	0.801000	0.45260	-0.068000	0.11561	0.068000	0.16574	-0.181000	0.13052	TCA		0.547	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1		NM_016128		11	67	0	0	0	0.00245	0	11	67		
DNAJC13	23317	broad.mit.edu	37	3	132215491	132215491	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:132215491C>T	ENST00000260818.6	+	36	4388	c.4140C>T	c.(4138-4140)ttC>ttT	p.F1380F		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1380					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCATCCTCTTCAACCGTCATA	0.338																																						uc003eor.2		NaN																	0				ovary(1)|breast(1)	2						c.(4138-4140)TTC>TTT		DnaJ (Hsp40) homolog, subfamily C, member 13							68.0	73.0	72.0					3																	132215491		2203	4297	6500	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132215491C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4140C>T	3.37:g.132215491C>T							p.F1380F	NM_015268	NP_056083	O75165	DJC13_HUMAN			36	4205	+			1380					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.4140C>T	CCDS33857.1																																																																																				0.338	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2		NM_015268		5	27	0	0	0	0.001168	0	5	27		
EPHB1	2047	broad.mit.edu	37	3	134873013	134873013	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:134873013C>G	ENST00000398015.3	+	6	1687	c.1317C>G	c.(1315-1317)atC>atG	p.I439M	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	439	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCGTTCCCATCATGCACCAAG	0.537																																						uc003eqt.2		NaN																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1315-1317)ATC>ATG		ephrin receptor EphB1 precursor							199.0	211.0	207.0					3																	134873013		2164	4289	6453	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134873013C>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1317C>G	3.37:g.134873013C>G	ENSP00000381097:p.Ile439Met					EPHB1_uc003equ.2_Translation_Start_Site	p.I439M	NM_004441	NP_004432	P54762	EPHB1_HUMAN			6	1537	+			439			Fibronectin type-III 2.|Extracellular (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1317C>G	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458758	0.26248	.	.	ENSG00000154928	ENST00000398015	T	0.54071	0.59	5.0	4.13	0.48395	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.054667	0.64402	D	0.000001	T	0.34048	0.0884	N	0.17723	0.515	0.80722	D	1	B	0.25312	0.123	B	0.20955	0.032	T	0.14254	-1.0479	10	0.39692	T	0.17	.	8.3865	0.32503	0.1529:0.7679:0.0:0.0792	.	439	P54762	EPHB1_HUMAN	M	439	ENSP00000381097:I439M	ENSP00000381097:I439M	I	+	3	3	EPHB1	136355703	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.753000	0.26376	1.343000	0.45638	0.655000	0.94253	ATC		0.537	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1		NM_004441		34	278	0	0	0	0.00874	0	34	278		
SLC35G2	80723	broad.mit.edu	37	3	136574265	136574265	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:136574265C>G	ENST00000446465.2	+	2	1591	c.963C>G	c.(961-963)ctC>ctG	p.L321L	RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.L321L|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		GGAGTTATCTCATTGCTATAT	0.388																																						uc003erf.3		NaN																	0				ovary(1)	1						c.(961-963)CTC>CTG		transmembrane protein 22							265.0	260.0	262.0					3																	136574265		2203	4300	6503	SO:0001819	synonymous_variant	80723					Golgi apparatus|integral to membrane		g.chr3:136574265C>G	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.963C>G	3.37:g.136574265C>G						TMEM22_uc003erg.3_Silent_p.L321L|TMEM22_uc010hub.2_Silent_p.L321L	p.L321L	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN			2	1177	+			321			DUF6 2.|Helical; (Potential).			Silent	SNP	ENST00000446465.2	37	c.963C>G	CCDS3091.1																																																																																				0.388	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1		NM_025246		22	208	0	0	0	0.003954	0	22	208		
DZIP1L	199221	broad.mit.edu	37	3	137790534	137790534	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:137790534C>T	ENST00000327532.2	-	12	1928	c.1566G>A	c.(1564-1566)gaG>gaA	p.E522E	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Silent_p.E522E	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	522					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCTCCTGTCTCTCCTTCGCTC	0.582																																						uc003erq.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1564-1566)GAG>GAA		DAZ interacting protein 1-like							91.0	94.0	93.0					3																	137790534		2203	4300	6503	SO:0001819	synonymous_variant	199221					intracellular	zinc ion binding	g.chr3:137790534C>T	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1566G>A	3.37:g.137790534C>T						DZIP1L_uc003err.1_Silent_p.E522E	p.E522E	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN			12	1929	-			522					C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	c.1566G>A	CCDS3096.1																																																																																				0.582	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1		NM_173543		12	96	0	0	0	0.003163	0	12	96		
PRR23A	729627	broad.mit.edu	37	3	138724388	138724388	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:138724388C>T	ENST00000383163.2	-	1	722	c.723G>A	c.(721-723)ggG>ggA	p.G241G	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	241	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						GACCTGGACTCCCCACGCGCG	0.652																																						uc011bms.1		NaN																	0					0						c.(721-723)GGG>GGA		proline rich 23A							19.0	20.0	20.0					3																	138724388		692	1591	2283	SO:0001819	synonymous_variant	729627							g.chr3:138724388C>T		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.723G>A	3.37:g.138724388C>T							p.G241G	NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN			1	723	-			241			Pro-rich.			Silent	SNP	ENST00000383163.2	37	c.723G>A	CCDS46923.1																																																																																				0.652	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1		NM_001134659		2	1	0	0	0	0.004672	0	2	1		
HLTF	6596	broad.mit.edu	37	3	148773120	148773120	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:148773120G>C	ENST00000310053.5	-	14	1636	c.1443C>G	c.(1441-1443)atC>atG	p.I481M	HLTF_ENST00000494055.1_Missense_Mutation_p.I481M|HLTF_ENST00000465259.1_Missense_Mutation_p.I480M|HLTF_ENST00000392912.2_Missense_Mutation_p.I481M	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	481	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAAGCGGACAGATGATCAGTG	0.363																																						uc003ewq.1		NaN																	0				ovary(1)	1						c.(1441-1443)ATC>ATG		helicase-like transcription factor							174.0	159.0	165.0					3																	148773120		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148773120G>C	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1443C>G	3.37:g.148773120G>C	ENSP00000308944:p.Ile481Met					HLTF_uc003ewr.1_Missense_Mutation_p.I481M|HLTF_uc003ews.1_Missense_Mutation_p.I480M|HLTF_uc010hve.1_Missense_Mutation_p.I480M	p.I481M	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		14	1661	-			481			Helicase ATP-binding.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.1443C>G	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114643	0.56505	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	5.33	2.54	0.30619	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.96972	0.9011	M	0.93106	3.38	0.42217	D	0.991834	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.99;0.995;0.989	D	0.95153	0.8274	9	0.87932	D	0	-2.559	4.446	0.11597	0.3197:0.0:0.5327:0.1475	.	481;481;481	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	M	480;481;481;481	ENSP00000420745:I480M;ENSP00000308944:I481M;ENSP00000376644:I481M;ENSP00000420429:I481M	ENSP00000308944:I481M	I	-	3	3	HLTF	150255810	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	0.186000	0.16978	0.639000	0.30564	0.585000	0.79938	ATC		0.363	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1				10	62	0	0	0	0.00245	0	10	62		
CLRN1	7401	broad.mit.edu	37	3	150659542	150659542	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:150659542G>A	ENST00000327047.1	-	2	550	c.260C>T	c.(259-261)cCa>cTa	p.P87L	CLRN1_ENST00000328863.4_Missense_Mutation_p.P87L|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000295911.2_Missense_Mutation_p.P11L|RP11-166N6.3_ENST00000569170.1_5'Flank|RP11-166N6.2_ENST00000469268.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	87					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAGCAAATCTGGAAAAACTGA	0.368																																						uc003eyk.1		NaN																	0					0						c.(259-261)CCA>CTA		clarin 1 isoform a							89.0	82.0	84.0					3																	150659542		2203	4300	6503	SO:0001583	missense	7401				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		g.chr3:150659542G>A	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.260C>T	3.37:g.150659542G>A	ENSP00000322280:p.Pro87Leu					CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Missense_Mutation_p.P11L|CLRN1_uc010hvj.1_RNA	p.P87L	NM_174878	NP_777367	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	551	-			87					D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	ENST00000327047.1	37	c.260C>T	CCDS3153.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849398	0.51270	.	.	ENSG00000163646	ENST00000295911;ENST00000327047;ENST00000328863;ENST00000468836	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.15	4.28	0.50868	.	0.106321	0.64402	N	0.000004	T	0.79782	0.4505	M	0.72894	2.215	0.80722	D	1	B;B	0.22414	0.001;0.069	B;B	0.23018	0.009;0.043	T	0.78460	-0.2195	10	0.66056	D	0.02	-9.2315	13.986	0.64337	0.0737:0.0:0.9263:0.0	.	87;11	P58418;P58418-1	CLRN1_HUMAN;.	L	11;87;87;11	ENSP00000295911:P11L;ENSP00000322280:P87L;ENSP00000329158:P87L;ENSP00000419892:P11L	ENSP00000295911:P11L	P	-	2	0	CLRN1	152142232	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.252000	0.89840	1.300000	0.44818	0.655000	0.94253	CCA		0.368	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1				3	21	0	0	0	0.009096	0	3	21		
MED12L	116931	broad.mit.edu	37	3	150903167	150903167	+	Silent	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:150903167G>T	ENST00000474524.1	+	11	1583	c.1545G>T	c.(1543-1545)gtG>gtT	p.V515V	MED12L_ENST00000422248.2_Silent_p.V515V|RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000273432.4_Silent_p.V375V|MED12L_ENST00000309237.4_Silent_p.V515V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	515						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATGGGCCGTGAGCTGCAAAC	0.517																																						uc003eyp.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1543-1545)GTG>GTT		mediator of RNA polymerase II transcription,							131.0	108.0	115.0					3																	150903167		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150903167G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1545G>T	3.37:g.150903167G>T						MED12L_uc011bnz.1_Silent_p.V375V|MED12L_uc003eyn.2_Silent_p.V515V|MED12L_uc003eyo.2_Silent_p.V515V	p.V515V	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		11	1583	+			515					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.1545G>T	CCDS33876.1																																																																																				0.517	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2		NM_053002		10	96	1	0	2.27111e-07	0.001368	2.37751e-07	10	96		
IGSF10	285313	broad.mit.edu	37	3	151155890	151155890	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:151155890G>A	ENST00000282466.3	-	6	6458	c.6459C>T	c.(6457-6459)atC>atT	p.I2153I	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2153	Ig-like C2-type 8.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCCAGCTTTGATTCTCTTGT	0.453																																						uc011bod.1		NaN																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(6457-6459)ATC>ATT		immunoglobulin superfamily, member 10 precursor							111.0	98.0	103.0					3																	151155890		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151155890G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6459C>T	3.37:g.151155890G>A						IGSF10_uc011bob.1_Silent_p.I180I|IGSF10_uc011boc.1_Silent_p.I132I	p.I2153I	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	6459	-			2153			Ig-like C2-type 8.		Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.6459C>T	CCDS3160.1																																																																																				0.453	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		NM_178822		9	42	0	0	0	0.010729	0	9	42		
IGSF10	285313	broad.mit.edu	37	3	151166756	151166756	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:151166756G>C	ENST00000282466.3	-	4	1012	c.1013C>G	c.(1012-1014)tCa>tGa	p.S338*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	338					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATGTCCTTGAGGGCTTTTG	0.413																																						uc011bod.1		NaN																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(1012-1014)TCA>TGA		immunoglobulin superfamily, member 10 precursor							110.0	110.0	110.0					3																	151166756		2203	4300	6503	SO:0001587	stop_gained	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166756G>C	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1013C>G	3.37:g.151166756G>C	ENSP00000282466:p.Ser338*						p.S338*	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1013	-			338					Q86YJ9|Q8N772|Q8NA84	Nonsense_Mutation	SNP	ENST00000282466.3	37	c.1013C>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201249	0.38905	.	.	ENSG00000152580	ENST00000282466	.	.	.	5.37	3.57	0.40892	.	0.804396	0.10456	N	0.672584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	6.6985	0.23213	0.0719:0.121:0.6668:0.1403	.	.	.	.	X	338	.	ENSP00000282466:S338X	S	-	2	0	IGSF10	152649446	0.019000	0.18553	0.004000	0.12327	0.018000	0.09664	1.688000	0.37690	0.645000	0.30675	-0.894000	0.02916	TCA		0.413	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		NM_178822		11	76	0	0	0	0.001855	0	11	76		
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																						uc003fpd.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)		0						c.(16-18)TCG>TTG		hypothetical protein LOC285382							16.0	17.0	17.0					3																	184870595		2196	4292	6488	SO:0001583	missense	285382							g.chr3:184870595G>A		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>T	3.37:g.184870595G>A	ENSP00000334974:p.Ser6Leu						p.S6L	NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN			1	208	-			6					B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	c.17C>T	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636714	0.14386	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	T	0.20577	0.0495	N	0.08118	0	0.24817	N	0.992606	B	0.18013	0.025	B	0.08055	0.003	T	0.16364	-1.0405	9	0.22109	T	0.4	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	6	A6NLC5	CC070_HUMAN	L	6	.	ENSP00000334974:S6L	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1		NM_001025266		6	35	0	0	0	0.004482	0	6	35		
LPP	4026	broad.mit.edu	37	3	188327106	188327106	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:188327106T>C	ENST00000312675.4	+	6	833	c.587T>C	c.(586-588)aTc>aCc	p.I196T	LPP_ENST00000448637.1_Missense_Mutation_p.I196T|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.I196T	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	196	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GTGGCTCCAATCGGAACACTC	0.562			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	uc003frs.1		NaN		Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	HMGA2|MLL|C12orf9		lipoma|leukemia	HMGA2/LPP(161)	0				soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165						c.(586-588)ATC>ACC		LIM domain containing preferred translocation							119.0	114.0	116.0					3																	188327106		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327106T>C	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.587T>C	3.37:g.188327106T>C	ENSP00000318089:p.Ile196Thr					LPP_uc011bsg.1_Missense_Mutation_p.I196T|LPP_uc011bsi.1_Missense_Mutation_p.I196T|LPP_uc003frt.2_Missense_Mutation_p.I196T|LPP_uc011bsj.1_Missense_Mutation_p.I33T	p.I196T	NM_005578	NP_005569	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	6	833	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	196			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.587T>C	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.305815	0.40795	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.55052	1.91;0.54;0.54;1.48	5.84	5.84	0.93424	.	0.305617	0.28343	N	0.015698	T	0.45895	0.1365	L	0.50333	1.59	0.29986	N	0.817334	P;B;B	0.52842	0.956;0.355;0.005	B;B;B	0.40940	0.344;0.178;0.005	T	0.50866	-0.8777	10	0.20519	T	0.43	.	13.9568	0.64155	0.0:0.0:0.0:1.0	.	196;196;196	B7Z8W0;C9JUT4;Q93052	.;.;LPP_HUMAN	T	196;196;196;33	ENSP00000393602:I196T;ENSP00000318089:I196T;ENSP00000438891:I196T;ENSP00000393008:I33T	ENSP00000318089:I196T	I	+	2	0	LPP	189809800	0.907000	0.30839	1.000000	0.80357	0.913000	0.54294	6.596000	0.74113	2.243000	0.73865	0.533000	0.62120	ATC		0.562	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1		NM_005578		28	132	0	0	0	0.008361	0	28	132		
CCDC50	152137	broad.mit.edu	37	3	191100573	191100573	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:191100573G>A	ENST00000392455.3	+	9	1351	c.753G>A	c.(751-753)gaG>gaA	p.E251E	CCDC50_ENST00000392456.3_Silent_p.E427E	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	251						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGTCAAAAGAGAGTGATGAAC	0.373																																						uc003fsw.2		NaN																	0					0						c.(751-753)GAG>GAA		Ymer protein short isoform							79.0	85.0	83.0					3																	191100573		2203	4300	6503	SO:0001819	synonymous_variant	152137					cytoplasm	protein binding	g.chr3:191100573G>A	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.753G>A	3.37:g.191100573G>A						CCDC50_uc003fsv.2_Silent_p.E427E	p.E251E	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	9	1343	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		251					Q86VH7	Silent	SNP	ENST00000392455.3	37	c.753G>A	CCDS33913.1																																																																																				0.373	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1		NM_174908		3	30	0	0	0	0.001168	0	3	30		
PYDC2	152138	broad.mit.edu	37	3	191178959	191178959	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:191178959C>T	ENST00000518817.1	+	1	8	c.8C>T	c.(7-9)tCt>tTt	p.S3F		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	3	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AAGATGGCATCTTCTGCAGAG	0.453																																						uc011bso.1		NaN																	0					0						c.(7-9)TCT>TTT		pyrin domain containing 2							67.0	75.0	72.0					3																	191178959		2201	4300	6501	SO:0001583	missense	152138					cytoplasm|nucleus		g.chr3:191178959C>T			3q28	2008-07-29				ENSG00000253548			33512	protein-coding gene	gene with protein product		615701				17178784	Standard	NM_001083308		Approved	POP2	uc011bso.2	Q56P42		ENST00000518817.1:c.8C>T	3.37:g.191178959C>T	ENSP00000428325:p.Ser3Phe						p.S3F	NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN			1	8	+			3			DAPIN.			Missense_Mutation	SNP	ENST00000518817.1	37	c.8C>T		.	.	.	.	.	.	.	.	.	.	C	10.68	1.417640	0.25552	.	.	ENSG00000253548	ENST00000518817	T	0.66460	-0.21	0.688	0.688	0.18027	Pyrin (1);DEATH-like (1);	.	.	.	.	T	0.71821	0.3385	.	.	.	0.09310	N	1	D	0.67145	0.996	P	0.57548	0.823	T	0.60485	-0.7254	7	0.72032	D	0.01	.	.	.	.	.	3	Q56P42	PYDC2_HUMAN	F	3	ENSP00000428325:S3F	ENSP00000428325:S3F	S	+	2	0	PYDC2	192661653	0.177000	0.23109	0.023000	0.16930	0.092000	0.18411	0.867000	0.27968	0.635000	0.30488	0.313000	0.20887	TCT		0.453	PYDC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343231.2		NM_001083308		8	63	0	0	0	0.001855	0	8	63		
ATP13A4	84239	broad.mit.edu	37	3	193130105	193130105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:193130105G>A	ENST00000342695.4	-	27	3392	c.3070C>T	c.(3070-3072)Cca>Tca	p.P1024S	ATP13A4_ENST00000392443.3_Missense_Mutation_p.P1005S|ATP13A4_ENST00000400270.2_Missense_Mutation_p.P40S|ATP13A4_ENST00000482964.1_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1024						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATTTTTTCTGGAGCAGTTGGA	0.408																																						uc003ftd.2		NaN																	0				ovary(2)	2						c.(3070-3072)CCA>TCA		ATPase type 13A4							243.0	240.0	241.0					3																	193130105		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193130105G>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3070C>T	3.37:g.193130105G>A	ENSP00000339182:p.Pro1024Ser					ATP13A4_uc010hzi.2_RNA	p.P1024S	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	27	3178	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		1024			Cytoplasmic (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.3070C>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	4.355	0.065349	0.08388	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;D;D	0.88509	0.52;-2.39;-2.39	5.62	4.74	0.60224	.	0.334302	0.26099	N	0.026347	T	0.72630	0.3484	N	0.02539	-0.55	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.67169	-0.5738	10	0.13853	T	0.58	-3.2339	13.0731	0.59072	0.0:0.1606:0.8394:0.0	.	1024	Q4VNC1	AT134_HUMAN	S	40;1005;1024	ENSP00000383129:P40S;ENSP00000376238:P1005S;ENSP00000339182:P1024S	ENSP00000339182:P1024S	P	-	1	0	ATP13A4	194612799	0.980000	0.34600	0.963000	0.40424	0.036000	0.12997	0.934000	0.28910	1.509000	0.48786	0.650000	0.86243	CCA		0.408	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4		NM_032279		18	139	0	0	0	0.00333	0	18	139		
HES1	3280	broad.mit.edu	37	3	193855682	193855682	+	Missense_Mutation	SNP	C	C	T	rs375649870		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:193855682C>T	ENST00000232424.3	+	4	739	c.503C>T	c.(502-504)cCg>cTg	p.P168L		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GCGCCGCCACCGCCCCCACCG	0.791																																						uc003ftq.1		NaN																	0				ovary(1)|lung(1)	2						c.(502-504)CCG>CTG		hairy and enhancer of split 1		C	LEU/PRO	0,3898		0,0,1949	12.0	15.0	14.0		503	4.5	1.0	3		14	1,7763		0,1,3881	no	missense	HES1	NM_005524.3	98	0,1,5830	TT,TC,CC		0.0129,0.0,0.0086	possibly-damaging	168/281	193855682	1,11661	1949	3882	5831	SO:0001583	missense	3280				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr3:193855682C>T	L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"""Basic helix-loop-helix proteins"""	5192	protein-coding gene	gene with protein product		139605	"""hairy homolog (Drosophila)"", ""hairy and enhancer of split 1, (Drosophila)"""	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.503C>T	3.37:g.193855682C>T	ENSP00000232424:p.Pro168Leu						p.P168L	NM_005524	NP_005515	Q14469	HES1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	4	739	+	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		168			Pro-rich.		A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	ENST00000232424.3	37	c.503C>T	CCDS3305.1	.	.	.	.	.	.	.	.	.	.	C	8.050	0.765692	0.15983	0.0	1.29E-4	ENSG00000114315	ENST00000232424	T	0.46819	0.86	4.49	4.49	0.54785	.	0.201763	0.43579	D	0.000555	T	0.25938	0.0632	N	0.08118	0	0.49915	D	0.999837	B	0.30211	0.273	B	0.17722	0.019	T	0.09751	-1.0660	10	0.18276	T	0.48	-7.3824	16.1552	0.81657	0.0:1.0:0.0:0.0	.	168	Q14469	HES1_HUMAN	L	168	ENSP00000232424:P168L	ENSP00000232424:P168L	P	+	2	0	HES1	195338376	0.996000	0.38824	0.999000	0.59377	0.967000	0.64934	0.490000	0.22403	2.219000	0.72066	0.555000	0.69702	CCG		0.791	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342632.1				7	106	0	0	0	0.001855	0	7	106		
ATP13A3	79572	broad.mit.edu	37	3	194146180	194146180	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:194146180T>C	ENST00000439040.1	-	30	3995	c.3204A>G	c.(3202-3204)atA>atG	p.I1068M	ATP13A3_ENST00000256031.4_Missense_Mutation_p.I1068M			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1068						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CATAATTTTGTATATTATGTT	0.358																																						uc003fty.3		NaN																	0				ovary(1)	1						c.(3202-3204)ATA>ATG		ATPase type 13A3							87.0	83.0	84.0					3																	194146180		1816	4074	5890	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194146180T>C	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3204A>G	3.37:g.194146180T>C	ENSP00000416508:p.Ile1068Met					ATP13A3_uc003ftx.3_Translation_Start_Site	p.I1068M	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	29	3606	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	1068					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.3204A>G	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562153	0.45590	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.88896	-2.44;-2.44	5.53	0.355	0.16069	.	0.000000	0.85682	D	0.000000	D	0.85405	0.5689	M	0.66297	2.02	0.49299	D	0.999778	P	0.38800	0.648	P	0.44732	0.459	T	0.77432	-0.2590	10	0.36615	T	0.2	-0.8372	1.3691	0.02207	0.3084:0.083:0.3255:0.2831	.	1068	Q9H7F0	AT133_HUMAN	M	1068	ENSP00000416508:I1068M;ENSP00000256031:I1068M	ENSP00000256031:I1068M	I	-	3	3	ATP13A3	195627469	0.985000	0.35326	0.999000	0.59377	0.802000	0.45316	0.268000	0.18571	0.364000	0.24374	-0.353000	0.07706	ATA		0.358	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2		NM_024524		6	35	0	0	0	0.00308	0	6	35		
ACAP2	23527	broad.mit.edu	37	3	195053852	195053852	+	Splice_Site	SNP	T	T	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:195053852T>A	ENST00000326793.6	-	8	804	c.574A>T	c.(574-576)Atg>Ttg	p.M192L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	192	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AATGACAACATCTAATAGGGA	0.318																																						uc003fun.3		NaN																	0				large_intestine(1)|ovary(1)	2						c.(574-576)ATG>TTG		centaurin, beta 2							98.0	87.0	91.0					3																	195053852		2203	4299	6502	SO:0001630	splice_region_variant	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195053852T>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.574-1A>T	3.37:g.195053852T>A							p.M192L	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			8	815	-			192			BAR.		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.574A>T	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.27|11.27	1.588939|1.588939	0.28357|0.28357	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000439758;ENST00000423531	T|.	0.02103|.	4.45|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.110124|.	0.85682|.	D|.	0.000000|.	T|T	0.57021|0.57021	0.2025|0.2025	L|L	0.35414|0.35414	1.06|1.06	0.80722|0.80722	D|D	1|1	B|.	0.29590|.	0.25|.	B|.	0.29267|.	0.1|.	T|T	0.53788|0.53788	-0.8389|-0.8389	10|5	0.02654|.	T|.	1|.	.|.	15.1058|15.1058	0.72322|0.72322	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	192|.	Q15057|.	ACAP2_HUMAN|.	L|I	192|62;145	ENSP00000324287:M192L|.	ENSP00000324287:M192L|.	M|N	-|-	1|2	0|0	ACAP2|ACAP2	196535141|196535141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.670000|0.670000	0.39368|0.39368	7.569000|7.569000	0.82380|0.82380	2.165000|2.165000	0.68154|0.68154	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.318	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2		NM_012287	Missense_Mutation	12	57	0	0	0	0.001855	0	12	57		
PIGG	54872	broad.mit.edu	37	4	499636	499636	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:499636G>A	ENST00000453061.2	+	3	596	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	PIGG_ENST00000504346.1_Missense_Mutation_p.E75K|PIGG_ENST00000310340.5_Missense_Mutation_p.E164K|PIGG_ENST00000296306.7_Missense_Mutation_p.E75K|PIGG_ENST00000383028.4_Intron|PIGG_ENST00000536264.1_Missense_Mutation_p.E42K|PIGG_ENST00000509768.1_Missense_Mutation_p.E75K|PIGG_ENST00000503111.1_Missense_Mutation_p.E75K	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	164					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTATGGAGATGAAACCTGGGT	0.383																																						uc003gak.3		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(490-492)GAA>AAA		phosphatidylinositol glycan anchor biosynthesis,							76.0	78.0	77.0					4																	499636		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:499636G>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.490G>A	4.37:g.499636G>A	ENSP00000415203:p.Glu164Lys					PIGG_uc003gaj.3_Missense_Mutation_p.E164K|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Intron|PIGG_uc003gal.3_Missense_Mutation_p.E75K|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.E42K|PIGG_uc003gam.2_Missense_Mutation_p.E75K|PIGG_uc003gan.2_Missense_Mutation_p.E75K	p.E164K	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			3	626	+			164			Lumenal (Potential).		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.490G>A	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405621	0.96051	.	.	ENSG00000174227	ENST00000296306;ENST00000536264;ENST00000310340;ENST00000453061;ENST00000504346;ENST00000503111;ENST00000509768	T;T;T;T;T;T;T	0.71698	-0.59;1.55;-0.59;-0.59;1.55;-0.59;-0.59	5.52	5.52	0.82312	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.133082	0.64402	D	0.000002	T	0.77942	0.4206	M	0.64997	1.995	0.54753	D	0.999982	P;P;P;P;P	0.50066	0.741;0.88;0.862;0.931;0.734	P;P;P;P;P	0.52454	0.593;0.699;0.526;0.699;0.562	T	0.80434	-0.1384	10	0.87932	D	0	.	16.9248	0.86173	0.0:0.0:1.0:0.0	.	42;75;75;164;164	B4DKC7;D6RFE8;Q5H8A4-5;Q5H8A4;Q5H8A4-2	.;.;.;PIGG_HUMAN;.	K	75;42;164;164;75;75;75	ENSP00000296306:E75K;ENSP00000439240:E42K;ENSP00000311750:E164K;ENSP00000415203:E164K;ENSP00000424800:E75K;ENSP00000426002:E75K;ENSP00000421550:E75K	ENSP00000296306:E75K	E	+	1	0	PIGG	489636	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.929000	0.92859	2.593000	0.87608	0.655000	0.94253	GAA		0.383	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1		NM_017733		7	54	0	0	0	0.00308	0	7	54		
UVSSA	57654	broad.mit.edu	37	4	1343568	1343568	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:1343568G>A	ENST00000389851.4	+	3	802	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	UVSSA_ENST00000507531.1_Missense_Mutation_p.G119R|UVSSA_ENST00000511216.1_Missense_Mutation_p.G119R	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	119	VHS-like.				protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										GGCCGTGGAAGGGTGGAATGA	0.612																																						uc003gde.3		NaN																	0					0						c.(355-357)GGG>AGG		hypothetical protein LOC57654							33.0	39.0	37.0					4																	1343568		2203	4300	6503	SO:0001583	missense	57654							g.chr4:1343568G>A	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.355G>A	4.37:g.1343568G>A	ENSP00000374501:p.Gly119Arg						p.G119R	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0138)		3	802	+			119					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.355G>A	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	G	2.010	-0.427381	0.04701	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.22539	1.95;1.95;1.95	4.89	3.15	0.36227	.	0.776024	0.12383	N	0.473755	T	0.12347	0.0300	N	0.17082	0.46	0.09310	N	0.999999	B	0.24317	0.101	B	0.24155	0.051	T	0.36578	-0.9742	10	0.15066	T	0.55	.	9.6994	0.40178	0.2298:0.0:0.7702:0.0	.	119	Q2YD98	K1530_HUMAN	R	119	ENSP00000425130:G119R;ENSP00000374501:G119R;ENSP00000421741:G119R	ENSP00000374501:G119R	G	+	1	0	KIAA1530	1333568	0.001000	0.12720	0.001000	0.08648	0.146000	0.21551	0.741000	0.26202	0.473000	0.27368	0.591000	0.81541	GGG		0.612	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1		NM_020894		5	31	0	0	0	0.00308	0	5	31		
WHSC1	7468	broad.mit.edu	37	4	1940246	1940246	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:1940246C>G	ENST00000382895.3	+	10	2174	c.1743C>G	c.(1741-1743)ctC>ctG	p.L581L	WHSC1_ENST00000503128.1_Silent_p.L581L|WHSC1_ENST00000398261.1_Silent_p.L581L|WHSC1_ENST00000382892.2_Silent_p.L581L|WHSC1_ENST00000382891.5_Silent_p.L581L|WHSC1_ENST00000514045.1_Silent_p.L581L|WHSC1_ENST00000420906.2_Silent_p.L581L|WHSC1_ENST00000508803.1_Silent_p.L581L	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	581					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCTCCTCGCTCAAGAGCCAGG	0.498			T	IGH@	MM																																	uc003gdz.3		NaN		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1741-1743)CTC>CTG		Wolf-Hirschhorn syndrome candidate 1 protein							64.0	59.0	60.0					4																	1940246		2203	4300	6503	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1940246C>G	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1743C>G	4.37:g.1940246C>G						WHSC1_uc003geb.3_Silent_p.L581L|WHSC1_uc003gec.3_Silent_p.L581L|WHSC1_uc003ged.3_Silent_p.L581L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'Flank|WHSC1_uc003gdy.1_Silent_p.L581L|WHSC1_uc010icd.1_Silent_p.L581L|WHSC1_uc003gea.1_Silent_p.L581L|WHSC1_uc010ice.1_Silent_p.L581L|WHSC1_uc003geh.1_Silent_p.L581L	p.L581L	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	8	1919	+		all_epithelial(65;1.34e-05)	581					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.1743C>G	CCDS33940.1																																																																																				0.498	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2		NM_133330		10	86	0	0	0	0.001855	0	10	86		
FAM193A	8603	broad.mit.edu	37	4	2673965	2673965	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:2673965G>C	ENST00000324666.5	+	11	1675	c.1324G>C	c.(1324-1326)Gag>Cag	p.E442Q	FAM193A_ENST00000382839.3_Missense_Mutation_p.E442Q|FAM193A_ENST00000502458.1_Missense_Mutation_p.E464Q|FAM193A_ENST00000545951.1_Missense_Mutation_p.E442Q|FAM193A_ENST00000505311.1_Missense_Mutation_p.E442Q	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	442										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CTTGAGCCCAGAGAAGCCCAC	0.552																																						uc010icl.2		NaN																	0				ovary(3)	3						c.(1324-1326)GAG>CAG		hypothetical protein LOC8603							142.0	111.0	122.0					4																	2673965		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2673965G>C	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1324G>C	4.37:g.2673965G>C	ENSP00000324587:p.Glu442Gln					FAM193A_uc010ick.2_Missense_Mutation_p.E642Q|FAM193A_uc003gfd.2_Missense_Mutation_p.E442Q|FAM193A_uc011bvm.1_Missense_Mutation_p.E464Q|FAM193A_uc011bvn.1_Missense_Mutation_p.E442Q|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.E296Q	p.E442Q	NM_003704	NP_003695	P78312	F193A_HUMAN			11	1675	+			442					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.1324G>C	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970949	0.74246	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.01	5.01	0.66863	.	0.218377	0.48767	D	0.000178	T	0.33411	0.0862	L	0.47716	1.5	0.41035	D	0.985181	P;P;P;P;P	0.51933	0.949;0.949;0.949;0.949;0.949	P;P;P;P;P	0.48189	0.57;0.57;0.57;0.57;0.57	T	0.11203	-1.0597	10	0.62326	D	0.03	-30.2746	17.6569	0.88180	0.0:0.0:1.0:0.0	.	442;464;442;464;442	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	Q	442;442;442;464;296	ENSP00000372290:E442Q;ENSP00000324587:E442Q;ENSP00000443617:E442Q;ENSP00000427505:E464Q;ENSP00000427260:E296Q	ENSP00000324587:E442Q	E	+	1	0	FAM193A	2643763	1.000000	0.71417	0.993000	0.49108	0.802000	0.45316	8.661000	0.91125	2.474000	0.83562	0.650000	0.86243	GAG		0.552	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1		NM_003704		11	85	0	0	0	0.001368	0	11	85		
LRPAP1	4043	broad.mit.edu	37	4	3516565	3516565	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:3516565C>G	ENST00000500728.2	-	7	1071	c.925G>C	c.(925-927)Gag>Cag	p.E309Q	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	309	LDL receptor binding. {ECO:0000255}.				extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CCCACGCTCTCTGCGTGCCTC	0.632																																						uc003ghi.2		NaN																	0				ovary(1)|skin(1)	2						c.(925-927)GAG>CAG		low density lipoprotein receptor-related protein							136.0	111.0	120.0					4																	3516565		2203	4300	6503	SO:0001583	missense	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3516565C>G		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"""low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"""	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.925G>C	4.37:g.3516565C>G	ENSP00000421922:p.Glu309Gln						p.E309Q	NM_002337	NP_002328	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	7	1010	-			309			LDL receptor binding (Potential).|Potential.		D3DVR9|Q2M310|Q53HQ3|Q53HS6	Missense_Mutation	SNP	ENST00000500728.2	37	c.925G>C	CCDS3371.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092952	0.76756	.	.	ENSG00000163956	ENST00000500728	T	0.51325	0.71	4.21	4.21	0.49690	Alpha-2-macroglobulin receptor-associated protein, domain 1 (1);Alpha-2-macroglobulin RAP, C-terminal (1);	0.055386	0.64402	D	0.000001	T	0.63651	0.2529	M	0.65498	2.005	0.48762	D	0.999706	D	0.69078	0.997	D	0.64410	0.925	T	0.66838	-0.5822	10	0.54805	T	0.06	-39.0022	14.1433	0.65334	0.0:1.0:0.0:0.0	.	309	P30533	AMRP_HUMAN	Q	309	ENSP00000421922:E309Q	ENSP00000421922:E309Q	E	-	1	0	LRPAP1	3486363	1.000000	0.71417	0.992000	0.48379	0.447000	0.32167	6.568000	0.73987	2.192000	0.70111	0.561000	0.74099	GAG		0.632	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4				19	148	0	0	0	0.010504	0	19	148		
CRMP1	1400	broad.mit.edu	37	4	5827255	5827255	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:5827255G>A	ENST00000397890.2	-	13	1807	c.1593C>T	c.(1591-1593)atC>atT	p.I531I	EVC_ENST00000382674.2_Intron|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Silent_p.I529I|CRMP1_ENST00000324989.7_Silent_p.I645I	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	531					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GGAGGTTTCTGATGGGTGGGG	0.547																																						uc003gip.2		NaN																	0				ovary(2)	2						c.(1591-1593)ATC>ATT		collapsin response mediator protein 1 isoform 2							167.0	163.0	164.0					4																	5827255		2203	4300	6503	SO:0001819	synonymous_variant	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5827255G>A	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1593C>T	4.37:g.5827255G>A						EVC_uc003gim.1_Intron|CRMP1_uc003gin.1_Silent_p.I443I|CRMP1_uc003giq.2_Silent_p.I531I|CRMP1_uc003gir.2_Silent_p.I526I|CRMP1_uc003gis.2_Silent_p.I645I	p.I531I	NM_001313	NP_001304	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	14	1694	-			531					A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	ENST00000397890.2	37	c.1593C>T	CCDS43207.1																																																																																				0.547	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1		NM_001313		13	80	0	0	0	0.004007	0	13	80		
GRPEL1	80273	broad.mit.edu	37	4	7062677	7062677	+	Missense_Mutation	SNP	C	C	T	rs144832422	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:7062677C>T	ENST00000264954.4	-	4	730	c.566G>A	c.(565-567)gGc>gAc	p.G189D	GRPEL1_ENST00000514056.1_5'Flank	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	189					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGCCACTGTGCCTGGCTCCTT	0.567													C|||	6	0.00119808	0.0045	0.0	5008	,	,		19479	0.0		0.0	False		,,,				2504	0.0					uc003gjy.1		NaN																	0					0						c.(565-567)GGC>GAC		GrpE-like 1, mitochondrial precursor		C	ASP/GLY	16,4390	23.3+/-48.9	0,16,2187	117.0	121.0	120.0		566	5.5	1.0	4	dbSNP_134	120	0,8600		0,0,4300	yes	missense	GRPEL1	NM_025196.2	94	0,16,6487	TT,TC,CC		0.0,0.3631,0.123	probably-damaging	189/218	7062677	16,12990	2203	4300	6503	SO:0001583	missense	80273				protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding	g.chr4:7062677C>T	AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.566G>A	4.37:g.7062677C>T	ENSP00000264954:p.Gly189Asp					GRPEL1_uc003gjz.1_3'UTR	p.G189D	NM_025196	NP_079472	Q9HAV7	GRPE1_HUMAN			4	607	-			189					B2R783|Q549M6	Missense_Mutation	SNP	ENST00000264954.4	37	c.566G>A	CCDS3396.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	27.6	4.843347	0.91197	0.003631	0.0	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.53	5.53	0.82687	GrpE nucleotide exchange factor, head (2);	0.000000	0.85682	D	0.000000	T	0.69495	0.3117	M	0.64630	1.985	0.80722	D	1	P	0.48407	0.91	P	0.58391	0.838	T	0.74447	-0.3662	9	0.62326	D	0.03	.	19.4473	0.94852	0.0:1.0:0.0:0.0	.	189	Q9HAV7	GRPE1_HUMAN	D	189;168	.	ENSP00000264954:G189D	G	-	2	0	GRPEL1	7113578	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	7.284000	0.78650	2.590000	0.87494	0.462000	0.41574	GGC		0.567	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2		NM_025196		43	255	0	0	0	0.011902	0	43	255		
ANAPC4	29945	broad.mit.edu	37	4	25395483	25395483	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:25395483G>C	ENST00000315368.3	+	11	988	c.846G>C	c.(844-846)caG>caC	p.Q282H	ANAPC4_ENST00000510092.1_Missense_Mutation_p.Q282H	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	282					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TACTAATGCAGATGGATTCTC	0.333																																						uc003gro.2		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5						c.(844-846)CAG>CAC		anaphase-promoting complex subunit 4							95.0	88.0	91.0					4																	25395483		2203	4300	6503	SO:0001583	missense	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25395483G>C	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.846G>C	4.37:g.25395483G>C	ENSP00000318775:p.Gln282His					ANAPC4_uc003grp.2_Missense_Mutation_p.Q167H|ANAPC4_uc010iet.1_Intron|ANAPC4_uc010ieu.1_Missense_Mutation_p.Q91H	p.Q282H	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN			11	975	+		Breast(46;0.0503)	282					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	c.846G>C	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217745	0.79352	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.32753	1.44;1.44	5.96	4.23	0.50019	Anaphase-promoting complex subunit 4 long domain (1);	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.71184	0.935;0.972	T	0.42865	-0.9426	10	0.54805	T	0.06	-20.3834	12.0055	0.53257	0.1381:0.0:0.8619:0.0	.	282;282	Q9UJX5-2;Q9UJX5	.;APC4_HUMAN	H	282	ENSP00000318775:Q282H;ENSP00000426654:Q282H	ENSP00000318775:Q282H	Q	+	3	2	ANAPC4	25004581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.195000	0.65131	1.536000	0.49237	0.585000	0.79938	CAG		0.333	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1		NM_013367		4	43	0	0	0	0.001984	0	4	43		
RBPJ	3516	broad.mit.edu	37	4	26432520	26432520	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:26432520C>T	ENST00000361572.6	+	11	1588	c.1394C>T	c.(1393-1395)tCa>tTa	p.S465L	RBPJ_ENST00000355476.3_Missense_Mutation_p.S451L|RBPJ_ENST00000507561.1_Missense_Mutation_p.S430L|RBPJ_ENST00000504907.1_3'UTR|RBPJ_ENST00000342295.1_Missense_Mutation_p.S465L|RBPJ_ENST00000345843.3_Missense_Mutation_p.S450L|RBPJ_ENST00000342320.4_Missense_Mutation_p.S451L|RBPJ_ENST00000348160.4_Missense_Mutation_p.S452L			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	465					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CGAGCCAATTCAAGCCAGGTG	0.507																																						uc003grx.1		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1393-1395)TCA>TTA		recombining binding protein suppressor of							63.0	64.0	64.0					4																	26432520		2203	4300	6503	SO:0001583	missense	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26432520C>T	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.1394C>T	4.37:g.26432520C>T	ENSP00000354528:p.Ser465Leu					RBPJ_uc003gry.1_Missense_Mutation_p.S450L|RBPJ_uc003grz.1_Missense_Mutation_p.S465L|RBPJ_uc003gsa.1_Missense_Mutation_p.S451L|RBPJ_uc003gsb.1_Missense_Mutation_p.S452L|RBPJ_uc003gsc.1_3'UTR|uc003gsd.2_5'Flank	p.S465L	NM_005349	NP_005340	Q06330	SUH_HUMAN			12	1630	+		Breast(46;0.0503)	465					B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	c.1394C>T	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652388	0.67472	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000342320	T;T;T;T;T;T;T	0.35605	1.3;1.32;1.32;1.3;1.3;1.31;1.3	5.31	5.31	0.75309	.	0.201583	0.43919	D	0.000511	T	0.26810	0.0656	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.24426	0.063;0.103;0.058;0.099	B;B;B;B	0.18871	0.004;0.01;0.01;0.023	T	0.06716	-1.0811	10	0.59425	D	0.04	-12.1056	18.9538	0.92650	0.0:1.0:0.0:0.0	.	452;451;450;465	B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;SUH_HUMAN	L	450;465;465;452;451;430;451	ENSP00000305815:S450L;ENSP00000345206:S465L;ENSP00000354528:S465L;ENSP00000339699:S452L;ENSP00000347659:S451L;ENSP00000423907:S430L;ENSP00000340124:S451L	ENSP00000345206:S465L	S	+	2	0	RBPJ	26041618	1.000000	0.71417	0.798000	0.32154	0.997000	0.91878	5.076000	0.64413	2.492000	0.84095	0.655000	0.94253	TCA		0.507	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2		NM_015874		10	69	0	0	0	0.010729	0	10	69		
FAM114A1	92689	broad.mit.edu	37	4	38910248	38910248	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:38910248G>A	ENST00000358869.2	+	7	869	c.693G>A	c.(691-693)ttG>ttA	p.L231L	FAM114A1_ENST00000515037.1_Silent_p.L24L	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	231						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGATGCGTTGGAATTCATCG	0.468																																						uc003gtn.2		NaN																	0				ovary(1)	1						c.(691-693)TTG>TTA		hypothetical protein LOC92689							115.0	102.0	107.0					4																	38910248		2203	4300	6503	SO:0001819	synonymous_variant	92689					cytoplasm		g.chr4:38910248G>A		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.693G>A	4.37:g.38910248G>A						FAM114A1_uc011byh.1_Silent_p.L24L	p.L231L	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN			7	869	+			231					A8K9W6|Q6MZV4|Q9BVL6	Silent	SNP	ENST00000358869.2	37	c.693G>A	CCDS3447.1																																																																																				0.468	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1		NM_138389		7	64	0	0	0	0.001984	0	7	64		
KLHL5	51088	broad.mit.edu	37	4	39116803	39116803	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:39116803G>A	ENST00000504108.1	+	10	2347	c.2064G>A	c.(2062-2064)tgG>tgA	p.W688*	KLHL5_ENST00000508137.2_Nonsense_Mutation_p.W501*|KLHL5_ENST00000261425.3_Nonsense_Mutation_p.W642*|RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000359687.2_Nonsense_Mutation_p.W688*|KLHL5_ENST00000261426.5_Nonsense_Mutation_p.W627*|KLHL5_ENST00000381930.3_Nonsense_Mutation_p.W688*	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	688						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						CAGACATGTGGACTGCAGTAG	0.398																																						uc003gts.2		NaN																	0				ovary(1)	1						c.(2062-2064)TGG>TGA		kelch-like 5 isoform 1							88.0	82.0	84.0					4																	39116803		2203	4300	6503	SO:0001587	stop_gained	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39116803G>A	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.2064G>A	4.37:g.39116803G>A	ENSP00000423897:p.Trp688*					KLHL5_uc003gtp.2_Nonsense_Mutation_p.W642*|KLHL5_uc003gtq.2_Nonsense_Mutation_p.W501*|KLHL5_uc003gtr.1_Nonsense_Mutation_p.W688*|KLHL5_uc003gtt.2_Nonsense_Mutation_p.W627*	p.W688*	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN			10	2139	+			688			Kelch 5.		A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Nonsense_Mutation	SNP	ENST00000504108.1	37	c.2064G>A	CCDS33974.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.172525|9.172525	0.99089|0.99089	.|.	.|.	ENSG00000109790|ENSG00000109790	ENST00000515612|ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426;ENST00000546147	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.50137|.	0.1598|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37979|.	-0.9682|.	3|.	.|0.02654	.|T	.|1	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	N|X	200|722;642;501;688;688;688;627;282	.|.	.|ENSP00000261425:W642X	D|W	+|+	1|3	0|0	KLHL5|KLHL5	38793198|38793198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.623000|9.623000	0.98386|0.98386	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAC|TGG		0.398	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1				7	82	0	0	0	0.008291	0	7	82		
KLB	152831	broad.mit.edu	37	4	39448748	39448748	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:39448748C>G	ENST00000257408.4	+	4	2499	c.2402C>G	c.(2401-2403)tCg>tGg	p.S801W		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	801	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CTTTCCAGCTCGGCCCTGCCG	0.647																																						uc003gua.2		NaN																	0				skin(1)	1						c.(2401-2403)TCG>TGG		klotho beta							27.0	29.0	28.0					4																	39448748		2201	4291	6492	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448748C>G	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2402C>G	4.37:g.39448748C>G	ENSP00000257408:p.Ser801Trp					KLB_uc011byj.1_Missense_Mutation_p.S792W	p.S801W	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			4	2499	+			801			Extracellular (Potential).|Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.2402C>G	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.125936	0.37533	.	.	ENSG00000134962	ENST00000257408	T	0.35973	1.28	4.95	4.95	0.65309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.199690	0.06332	U	0.706371	T	0.72875	0.3515	H	0.94698	3.57	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.65459	-0.6163	10	0.54805	T	0.06	-24.1287	13.2015	0.59772	0.1594:0.8406:0.0:0.0	.	792;801	B7ZL50;Q86Z14	.;KLOTB_HUMAN	W	801	ENSP00000257408:S801W	ENSP00000257408:S801W	S	+	2	0	KLB	39125143	1.000000	0.71417	0.376000	0.26042	0.011000	0.07611	5.829000	0.69316	2.293000	0.77203	0.313000	0.20887	TCG		0.647	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1		NM_175737		16	74	0	0	0	0.00499	0	16	74		
RHOH	399	broad.mit.edu	37	4	40245012	40245012	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:40245012G>C	ENST00000381799.5	+	3	730	c.6G>C	c.(4-6)ctG>ctC	p.L2L	RHOH_ENST00000505618.1_Silent_p.L2L	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	2					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GGAAGATGCTGAGTTCCATCA	0.582																																						uc003guz.2		NaN																	0				ovary(1)|lung(1)	2						c.(4-6)CTG>CTC		ras homolog gene family, member H precursor							182.0	141.0	155.0					4																	40245012		2203	4300	6503	SO:0001819	synonymous_variant	399				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	g.chr4:40245012G>C	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.6G>C	4.37:g.40245012G>C							p.L2L	NM_004310	NP_004301	Q15669	RHOH_HUMAN			3	730	+			2						Silent	SNP	ENST00000381799.5	37	c.6G>C	CCDS3458.1																																																																																				0.582	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3		NM_004310		16	88	0	0	0	0.007413	0	16	88		
KDR	3791	broad.mit.edu	37	4	55968637	55968637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:55968637G>A	ENST00000263923.4	-	14	2321	c.2026C>T	c.(2026-2028)Cag>Tag	p.Q676*		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	676	Ig-like C2-type 7.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGTCGTCTGATTCTCCAGG	0.438			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2		NaN		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2026-2028)CAG>TAG		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						182.0	150.0	161.0					4																	55968637		2203	4300	6503	SO:0001587	stop_gained	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55968637G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2026C>T	4.37:g.55968637G>A	ENSP00000263923:p.Gln676*	TSP Lung(20;0.16)				KDR_uc003hat.1_Nonsense_Mutation_p.Q676*	p.Q676*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		14	2328	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		676			Ig-like C2-type 7.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	c.2026C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	40	8.297588	0.98747	.	.	ENSG00000128052	ENST00000263923	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	20.1146	0.97924	0.0:0.0:1.0:0.0	.	.	.	.	X	676	.	ENSP00000263923:Q676X	Q	-	1	0	KDR	55663394	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	8.353000	0.90077	2.855000	0.98099	0.655000	0.94253	CAG		0.438	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1				4	15	0	0	0	0.000602	0	4	15		
KIAA1211	57482	broad.mit.edu	37	4	57179512	57179512	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:57179512G>A	ENST00000504228.1	+	5	609	c.504G>A	c.(502-504)caG>caA	p.Q168Q	KIAA1211_ENST00000541073.1_Silent_p.Q161Q|KIAA1211_ENST00000264229.6_Silent_p.Q168Q			Q6ZU35	K1211_HUMAN	KIAA1211	168										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAAAAAAACAGAGGGTGTCAA	0.567																																						uc003hbk.2		NaN																	0				ovary(1)|skin(1)	2						c.(502-504)CAG>CAA		hypothetical protein LOC57482							84.0	92.0	90.0					4																	57179512		2032	4179	6211	SO:0001819	synonymous_variant	57482							g.chr4:57179512G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.504G>A	4.37:g.57179512G>A						KIAA1211_uc010iha.2_Silent_p.Q161Q|KIAA1211_uc011bzz.1_Silent_p.Q78Q|KIAA1211_uc003hbm.1_Silent_p.Q54Q	p.Q168Q	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			7	895	+	Glioma(25;0.08)|all_neural(26;0.101)		168					Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.504G>A	CCDS43230.1																																																																																				0.567	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2		NM_020722		12	102	0	0	0	0.001855	0	12	102		
SPINK2	6691	broad.mit.edu	37	4	57677932	57677932	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:57677932C>T	ENST00000248701.4	-	3	207	c.128G>A	c.(127-129)gGa>gAa	p.G43E	SPINK2_ENST00000506738.1_Missense_Mutation_p.G93E|SPINK2_ENST00000504762.1_Missense_Mutation_p.G78E	NM_021114.2	NP_066937.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	43	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					TCTGGGACATCCTGGTAATCT	0.393																																						uc003hcg.1		NaN																	0					0						c.(127-129)GGA>GAA		serine protease inhibitor, Kazal type 2							132.0	130.0	131.0					4																	57677932		2203	4300	6503	SO:0001583	missense	6691					extracellular region	serine-type endopeptidase inhibitor activity	g.chr4:57677932C>T	BC022514	CCDS3508.1, CCDS63971.1, CCDS63972.1, CCDS75128.1	4q12	2011-08-31	2005-08-17		ENSG00000128040	ENSG00000128040		"""Serine peptidase inhibitors, Kazal type"""	11245	protein-coding gene	gene with protein product		605753	"""serine protease inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)"""			8428671	Standard	NM_001271718		Approved	HUSI-II	uc031sep.1	P20155	OTTHUMG00000128769	ENST00000248701.4:c.128G>A	4.37:g.57677932C>T	ENSP00000248701:p.Gly43Glu						p.G43E	NM_021114	NP_066937	P20155	ISK2_HUMAN			3	193	-	Glioma(25;0.08)|all_neural(26;0.181)		43			Kazal-like.		Q6FGH2	Missense_Mutation	SNP	ENST00000248701.4	37	c.128G>A	CCDS3508.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018785	0.35606	.	.	ENSG00000128040	ENST00000248701;ENST00000506738;ENST00000504762	T;T;T	0.74421	-0.84;-0.84;-0.84	5.07	2.36	0.29203	Proteinase inhibitor I1, Kazal (2);	0.491185	0.18561	N	0.137604	T	0.76371	0.3978	.	.	.	0.29464	N	0.857548	D	0.64830	0.994	D	0.63283	0.913	T	0.67461	-0.5665	9	0.17832	T	0.49	-6.0401	8.346	0.32272	0.1669:0.5105:0.3226:0.0	.	43	P20155	ISK2_HUMAN	E	43;93;78	ENSP00000248701:G43E;ENSP00000425961:G93E;ENSP00000423858:G78E	ENSP00000248701:G43E	G	-	2	0	SPINK2	57372689	0.939000	0.31865	0.977000	0.42913	0.117000	0.20001	0.297000	0.19101	0.300000	0.22699	0.644000	0.83932	GGA		0.393	SPINK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250690.2		NM_021114		19	134	0	0	0	0.00278	0	19	134		
NOA1	84273	broad.mit.edu	37	4	57829640	57829640	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:57829640C>A	ENST00000264230.4	-	7	3310	c.2073G>T	c.(2071-2073)aaG>aaT	p.K691N	RP11-738E22.3_ENST00000602820.1_lincRNA	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	691					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										TTCCTTTCTTCTTCCTCACGT	0.358																																						uc003hck.2		NaN																	0				ovary(1)|breast(1)	2						c.(2071-2073)AAG>AAT		hypothetical protein LOC84273							162.0	160.0	160.0					4																	57829640		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57829640C>A	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.2073G>T	4.37:g.57829640C>A	ENSP00000264230:p.Lys691Asn						p.K691N	NM_032313	NP_115689	Q8NC60	CD014_HUMAN			7	2148	-	Glioma(25;0.08)|all_neural(26;0.181)		691					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.2073G>T	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464811	0.26335	.	.	ENSG00000084092	ENST00000264230	T	0.35605	1.3	4.89	2.23	0.28157	.	0.329355	0.28996	N	0.013471	T	0.44850	0.1313	L	0.57536	1.79	0.27096	N	0.96272	D	0.64830	0.994	P	0.56278	0.795	T	0.32981	-0.9886	10	0.72032	D	0.01	.	7.9937	0.30256	0.0:0.7026:0.1242:0.1732	.	691	Q8NC60	CD014_HUMAN	N	691	ENSP00000264230:K691N	ENSP00000264230:K691N	K	-	3	2	C4orf14	57524397	0.002000	0.14202	0.932000	0.37286	0.201000	0.24016	-0.230000	0.09083	0.353000	0.24079	0.655000	0.94253	AAG		0.358	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2		NM_032313		21	88	1	0	2.39556e-15	0.00278	2.57008e-15	21	88		
ANKRD17	26057	broad.mit.edu	37	4	74019627	74019627	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:74019627C>G	ENST00000358602.4	-	6	1320	c.1204G>C	c.(1204-1206)Gag>Cag	p.E402Q	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.E289Q|ANKRD17_ENST00000330838.6_Missense_Mutation_p.E402Q	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	402					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGGCACTCTCTTTAAATTCA	0.348																																						uc003hgp.2		NaN																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(1204-1206)GAG>CAG		ankyrin repeat domain protein 17 isoform a							100.0	96.0	97.0					4																	74019627		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74019627C>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1204G>C	4.37:g.74019627C>G	ENSP00000351416:p.Glu402Gln					ANKRD17_uc003hgo.2_Missense_Mutation_p.E289Q|ANKRD17_uc003hgq.2_Missense_Mutation_p.E402Q|ANKRD17_uc003hgr.2_Missense_Mutation_p.E402Q|ANKRD17_uc011cbd.1_Missense_Mutation_p.E31Q	p.E402Q	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		6	1321	-	Breast(15;0.000295)		402			ANK 6.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.1204G>C	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690605	0.88735	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.64803	-0.12;-0.12;-0.12	4.95	4.95	0.65309	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000010	T	0.62768	0.2455	N	0.10760	0.04	0.43114	D	0.994829	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	T	0.66188	-0.5986	10	0.27785	T	0.31	.	18.1916	0.89808	0.0:1.0:0.0:0.0	.	402;402;402;289	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	Q	402;402;402;289;402	ENSP00000351416:E402Q;ENSP00000332265:E402Q;ENSP00000427151:E289Q	ENSP00000332265:E402Q	E	-	1	0	ANKRD17	74238491	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.295000	0.77249	0.557000	0.71058	GAG		0.348	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1		NM_032217		6	57	0	0	0	0.004482	0	6	57		
PPEF2	5470	broad.mit.edu	37	4	76817437	76817437	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:76817437C>T	ENST00000286719.7	-	2	398	c.42G>A	c.(40-42)caG>caA	p.Q14Q	PPEF2_ENST00000510607.1_5'UTR	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	14					detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTCTGCATTCTGGAAAGCAA	0.527											OREG0016229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2		NaN																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(40-42)CAG>CAA		serine/threonine protein phosphatase with							207.0	178.0	188.0					4																	76817437		2203	4300	6503	SO:0001819	synonymous_variant	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76817437C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.42G>A	4.37:g.76817437C>T			OREG0016229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1171	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Silent_p.Q14Q	p.Q14Q	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		2	399	-			14					O14831	Silent	SNP	ENST00000286719.7	37	c.42G>A	CCDS34013.1																																																																																				0.527	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1		NM_006239		16	105	0	0	0	0.00278	0	16	105		
SDAD1	55153	broad.mit.edu	37	4	76882204	76882204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:76882204G>A	ENST00000356260.5	-	16	1451	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Nonsense_Mutation_p.Q408*	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	445					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCAGCATCTGAGGATTCAGT	0.363																																						uc003hje.3		NaN																	0				ovary(1)	1						c.(1333-1335)CAG>TAG		SDA1 domain containing 1							95.0	100.0	98.0					4																	76882204		2203	4300	6503	SO:0001587	stop_gained	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76882204G>A	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1333C>T	4.37:g.76882204G>A	ENSP00000348596:p.Gln445*					SDAD1_uc003hjf.3_Nonsense_Mutation_p.Q348*|SDAD1_uc011cbr.1_Nonsense_Mutation_p.Q408*	p.Q445*	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		16	1452	-			445					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Nonsense_Mutation	SNP	ENST00000356260.5	37	c.1333C>T	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	G	35	5.428963	0.96131	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	.	.	.	5.14	2.17	0.27698	.	0.279262	0.40908	D	0.000995	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-6.7852	7.9346	0.29923	0.0:0.149:0.3916:0.4594	.	.	.	.	X	445;408	.	ENSP00000348596:Q445X	Q	-	1	0	SDAD1	77101228	0.989000	0.36119	1.000000	0.80357	0.996000	0.88848	1.272000	0.33109	0.789000	0.33779	0.650000	0.86243	CAG		0.363	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3		NM_018115		14	99	0	0	0	0.007413	0	14	99		
PRKG2	5593	broad.mit.edu	37	4	82065388	82065388	+	Silent	SNP	C	C	T	rs112801782		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:82065388C>T	ENST00000395578.1	-	10	1367	c.1251G>A	c.(1249-1251)gcG>gcA	p.A417A	PRKG2_ENST00000418486.2_Silent_p.A417A|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Silent_p.A417A|PRKG2_ENST00000545647.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	417					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CCACTTACTTCGCATGTCTTT	0.428													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14633	0.0		0.0	False		,,,				2504	0.0					uc003hmh.2		NaN																	0				breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(1249-1251)GCG>GCA		protein kinase, cGMP-dependent, type II		C		3,4403	6.2+/-15.9	0,3,2200	158.0	144.0	149.0		1251	-10.6	0.1	4	dbSNP_132	149	0,8600		0,0,4300	no	coding-synonymous	PRKG2	NM_006259.1		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		417/763	82065388	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82065388C>T	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1251G>A	4.37:g.82065388C>T						PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Silent_p.A417A	p.A417A	NM_006259	NP_006250	Q13237	KGP2_HUMAN			9	1265	-			417			cGMP 2.		B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	ENST00000395578.1	37	c.1251G>A	CCDS3589.1																																																																																				0.428	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1		NM_006259		7	34	0	0	0	0.004482	0	7	34		
PTPN13	5783	broad.mit.edu	37	4	87730928	87730928	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:87730928G>C	ENST00000411767.2	+	46	7153	c.7090G>C	c.(7090-7092)Gag>Cag	p.E2364Q	PTPN13_ENST00000316707.6_Missense_Mutation_p.E2173Q|PTPN13_ENST00000436978.1_Missense_Mutation_p.E2369Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.E2345Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.E2369Q			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2364	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAGACCAGAGAGGTGCGCCA	0.378																																						uc003hpz.2		NaN																	0				ovary(4)|breast(1)|kidney(1)	6						c.(7090-7092)GAG>CAG		protein tyrosine phosphatase, non-receptor type							143.0	128.0	133.0					4																	87730928		1925	4150	6075	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87730928G>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.7090G>C	4.37:g.87730928G>C	ENSP00000407249:p.Glu2364Gln					PTPN13_uc003hpy.2_Missense_Mutation_p.E2369Q|PTPN13_uc003hqa.2_Missense_Mutation_p.E2345Q|PTPN13_uc003hqb.2_Missense_Mutation_p.E2173Q	p.E2364Q	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	46	7570	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	2364			Tyrosine-protein phosphatase.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.7090G>C	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655634	0.88056	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	5.31	5.31	0.75309	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.51477	D	0.000084	T	0.34542	0.0901	L	0.38692	1.165	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;P;D;D	0.74348	0.911;0.779;0.983;0.97	T	0.06935	-1.0799	10	0.87932	D	0	.	18.9769	0.92740	0.0:0.0:1.0:0.0	.	2173;2345;2364;2369	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Q	2345;2369;2173;2364;2369;2313	ENSP00000408368:E2345Q;ENSP00000394794:E2369Q;ENSP00000322675:E2173Q;ENSP00000407249:E2364Q;ENSP00000426626:E2369Q	ENSP00000322675:E2173Q	E	+	1	0	PTPN13	87949952	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.282000	0.78630	2.475000	0.83589	0.655000	0.94253	GAG		0.378	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1				11	70	0	0	0	0.003163	0	11	70		
DSPP	1834	broad.mit.edu	37	4	88534227	88534227	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:88534227C>G	ENST00000282478.7	+	3	922	c.889C>G	c.(889-891)Caa>Gaa	p.Q297E	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.Q297E			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	297					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TAGCATAGGTCAAAATTCAGA	0.428																																						uc003hqu.2		NaN																	0				central_nervous_system(1)	1						c.(889-891)CAA>GAA		dentin sialophosphoprotein preproprotein							92.0	97.0	95.0					4																	88534227		1937	4126	6063	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534227C>G	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.889C>G	4.37:g.88534227C>G	ENSP00000282478:p.Gln297Glu						p.Q297E	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	1009	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	297					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.889C>G	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325731	0.24080	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.90676	-2.71;-2.71	4.74	1.71	0.24356	.	.	.	.	.	D	0.88459	0.6442	L	0.59436	1.845	0.09310	N	1	P	0.45474	0.859	P	0.44394	0.448	T	0.79179	-0.1910	9	0.52906	T	0.07	-7.244	8.3085	0.32058	0.5608:0.3092:0.13:0.0	.	297	Q9NZW4	DSPP_HUMAN	E	297	ENSP00000382213:Q297E;ENSP00000282478:Q297E	ENSP00000282478:Q297E	Q	+	1	0	DSPP	88753251	0.468000	0.25839	0.054000	0.19295	0.022000	0.10575	0.147000	0.16202	0.579000	0.29504	0.557000	0.71058	CAA		0.428	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3		NM_014208		6	30	0	0	0	0.00308	0	6	30		
HERC6	55008	broad.mit.edu	37	4	89334244	89334244	+	Missense_Mutation	SNP	G	G	A	rs368219425		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:89334244G>A	ENST00000264346.7	+	12	1443	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	HERC6_ENST00000380265.5_Missense_Mutation_p.E462K	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	462					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TACGTGTCTCGAGGATGATCT	0.433																																						uc011cdi.1		NaN																	0				lung(3)|ovary(1)|kidney(1)	5						c.(1384-1386)GAG>AAG		hect domain and RLD 6 isoform 1		G	LYS/GLU,LYS/GLU	0,3878		0,0,1939	231.0	223.0	226.0		1384,1384	-2.0	0.0	4		226	2,8316		0,2,4157	no	missense,missense	HERC6	NM_001165136.1,NM_017912.3	56,56	0,2,6096	AA,AG,GG		0.024,0.0,0.0164	benign,benign	462/987,462/1023	89334244	2,12194	1939	4159	6098	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89334244G>A	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1384G>A	4.37:g.89334244G>A	ENSP00000264346:p.Glu462Lys					HERC6_uc011cdj.1_Missense_Mutation_p.E462K|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	p.E462K	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	12	1567	+		Hepatocellular(203;0.114)	462					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.1384G>A	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	G	0.266	-0.995924	0.02145	0.0	2.4E-4	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.39592	1.07;1.08	4.76	-1.99	0.07457	.	1.509710	0.03758	N	0.257658	T	0.16471	0.0396	N	0.04297	-0.235	0.09310	N	0.999999	B;B	0.12630	0.004;0.006	B;B	0.06405	0.002;0.001	T	0.07731	-1.0757	10	0.11485	T	0.65	.	1.2954	0.02068	0.4425:0.2763:0.1448:0.1364	.	462;462	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	K	462	ENSP00000369617:E462K;ENSP00000264346:E462K	ENSP00000264346:E462K	E	+	1	0	HERC6	89553267	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-1.493000	0.02298	-0.538000	0.06281	-1.051000	0.02340	GAG		0.433	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2				26	150	0	0	0	0.00623	0	26	150		
SMARCAD1	56916	broad.mit.edu	37	4	95201922	95201922	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:95201922G>A	ENST00000354268.4	+	20	2671	c.2598G>A	c.(2596-2598)ttG>ttA	p.L866L	SMARCAD1_ENST00000457823.2_Silent_p.L868L|SMARCAD1_ENST00000509418.1_Silent_p.L436L			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	866	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGTCTGAATTGAAACAGAAGG	0.323																																						uc003htc.3		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(2596-2598)TTG>TTA		SWI/SNF-related, matrix-associated							100.0	107.0	104.0					4																	95201922		2203	4300	6503	SO:0001819	synonymous_variant	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95201922G>A	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2598G>A	4.37:g.95201922G>A						SMARCAD1_uc003htb.3_Silent_p.L868L|SMARCAD1_uc003htd.3_Silent_p.L868L|SMARCAD1_uc010ila.2_Silent_p.L731L|SMARCAD1_uc011cdw.1_Silent_p.L436L	p.L866L	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	20	2853	+			866			Helicase C-terminal.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Silent	SNP	ENST00000354268.4	37	c.2598G>A	CCDS3639.1																																																																																				0.323	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1		NM_020159		10	67	0	0	0	0.001368	0	10	67		
ADH1A	124	broad.mit.edu	37	4	100200605	100200605	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:100200605C>G	ENST00000209668.2	-	8	1194	c.1081G>C	c.(1081-1083)Gac>Cac	p.D361H	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	361					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	TGAAGCAGGTCAAATCCTTCA	0.338																																						uc003hur.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1081-1083)GAC>CAC		class I alcohol dehydrogenase, alpha subunit	Fomepizole(DB01213)|NADH(DB00157)						77.0	79.0	79.0					4																	100200605		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100200605C>G	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.1081G>C	4.37:g.100200605C>G	ENSP00000209668:p.Asp361His					uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.D361H	p.D361H	NM_000667	NP_000658	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	8	1152	-			361					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.1081G>C	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539311	0.65085	.	.	ENSG00000187758	ENST00000209668	T	0.03745	3.82	3.17	3.17	0.36434	GroES-like (1);	0.241453	0.42420	D	0.000708	T	0.13500	0.0327	M	0.75884	2.315	0.80722	D	1	D	0.65815	0.995	P	0.58873	0.847	T	0.02829	-1.1105	10	0.51188	T	0.08	-7.8893	14.0633	0.64812	0.0:1.0:0.0:0.0	.	361	P07327	ADH1A_HUMAN	H	361	ENSP00000209668:D361H	ENSP00000209668:D361H	D	-	1	0	ADH1A	100419628	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.158000	0.64917	1.610000	0.50200	0.467000	0.42956	GAC		0.338	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1		NM_000667		6	11	0	0	0	0.001168	0	6	11		
MTTP	4547	broad.mit.edu	37	4	100512501	100512501	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:100512501C>T	ENST00000265517.5	+	5	814	c.611C>T	c.(610-612)cCa>cTa	p.P204L	MTTP_ENST00000511045.1_Missense_Mutation_p.P231L|MTTP_ENST00000457717.1_Missense_Mutation_p.P204L			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	204	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TTTACGACCCCAAATCAGGTA	0.328																																						uc003hvc.3		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(610-612)CCA>CTA		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						85.0	84.0	84.0					4																	100512501		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100512501C>T		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.611C>T	4.37:g.100512501C>T	ENSP00000265517:p.Pro204Leu					MTTP_uc011cej.1_Missense_Mutation_p.P231L	p.P204L	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	6	867	+			204			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.611C>T	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	C	8.069	0.769884	0.15983	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.34667	1.35;1.35;1.35	6.06	-4.16	0.03869	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.785599	0.12605	N	0.454340	T	0.18173	0.0436	L	0.29908	0.895	0.09310	N	1	B;B	0.15141	0.012;0.0	B;B	0.20955	0.032;0.001	T	0.21280	-1.0250	9	.	.	.	-32.0897	2.4534	0.04524	0.4574:0.2538:0.0767:0.2121	.	231;204	E9PBP6;P55157	.;MTP_HUMAN	L	231;204;204;204	ENSP00000427679:P231L;ENSP00000400821:P204L;ENSP00000265517:P204L	.	P	+	2	0	MTTP	100731524	0.000000	0.05858	0.000000	0.03702	0.960000	0.62799	0.100000	0.15231	-1.099000	0.03034	0.655000	0.94253	CCA		0.328	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3				3	22	0	0	0	0.009096	0	3	22		
BANK1	55024	broad.mit.edu	37	4	102981531	102981531	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:102981531G>C	ENST00000322953.4	+	12	2407	c.2133G>C	c.(2131-2133)ctG>ctC	p.L711L	BANK1_ENST00000444316.2_Silent_p.L681L|BANK1_ENST00000428908.1_Silent_p.L578L|BANK1_ENST00000504592.1_Silent_p.L696L|BANK1_ENST00000508653.1_Silent_p.L578L	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	711					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAAGTGGCCTGGAAATGATTC	0.413																																						uc003hvy.3		NaN																	0				ovary(2)|skin(1)	3						c.(2131-2133)CTG>CTC		B-cell scaffold protein with ankyrin repeats 1							81.0	85.0	84.0					4																	102981531		2203	4300	6503	SO:0001819	synonymous_variant	55024				B cell activation			g.chr4:102981531G>C	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2133G>C	4.37:g.102981531G>C						BANK1_uc003hvx.3_Silent_p.L696L|BANK1_uc010ill.2_Silent_p.L578L|BANK1_uc003hvz.3_Silent_p.L681L	p.L711L	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	12	2407	+		Hepatocellular(203;0.217)	711					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	ENST00000322953.4	37	c.2133G>C	CCDS34038.1																																																																																				0.413	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1		NM_017935		6	39	0	0	0	0.00308	0	6	39		
RRH	10692	broad.mit.edu	37	4	110757312	110757312	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:110757312G>A	ENST00000317735.4	+	4	581	c.547G>A	c.(547-549)Gat>Aat	p.D183N		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	183					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GAGGAAAAATGATAGGTAAGA	0.398																																						uc003hzv.2		NaN																	0				ovary(1)	1						c.(547-549)GAT>AAT		peropsin							126.0	115.0	118.0					4																	110757312		2203	4300	6503	SO:0001583	missense	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110757312G>A	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.547G>A	4.37:g.110757312G>A	ENSP00000314992:p.Asp183Asn						p.D183N	NM_006583	NP_006574	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	4	581	+		Hepatocellular(203;0.217)	183			Extracellular.		A1A4V2|Q7RTS4	Missense_Mutation	SNP	ENST00000317735.4	37	c.547G>A	CCDS3687.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.054675	0.55325	.	.	ENSG00000180245	ENST00000317735	T	0.37584	1.19	5.56	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.194019	0.53938	N	0.000060	T	0.42040	0.1185	L	0.42686	1.345	0.54753	D	0.999984	D	0.54207	0.965	P	0.52881	0.712	T	0.14227	-1.0480	10	0.23891	T	0.37	.	14.8525	0.70309	0.0694:0.0:0.9306:0.0	.	183	O14718	OPSX_HUMAN	N	183	ENSP00000314992:D183N	ENSP00000314992:D183N	D	+	1	0	RRH	110976761	1.000000	0.71417	0.995000	0.50966	0.845000	0.48019	5.228000	0.65310	1.492000	0.48499	0.650000	0.86243	GAT		0.398	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1		NM_006583		5	42	0	0	0	0.001168	0	5	42		
ENPEP	2028	broad.mit.edu	37	4	111430911	111430911	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:111430911C>G	ENST00000265162.5	+	5	1484	c.1142C>G	c.(1141-1143)tCa>tGa	p.S381*	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	381					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GAATCAGCCTCATCAAACCAA	0.453																																						uc003iab.3		NaN																	0				skin(3)|ovary(1)|breast(1)	5						c.(1141-1143)TCA>TGA		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						141.0	133.0	136.0					4																	111430911		2203	4300	6503	SO:0001587	stop_gained	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111430911C>G	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1142C>G	4.37:g.111430911C>G	ENSP00000265162:p.Ser381*						p.S381*	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	5	1484	+		Hepatocellular(203;0.217)	381			Extracellular (Potential).		Q504U2	Nonsense_Mutation	SNP	ENST00000265162.5	37	c.1142C>G	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	38	6.716394	0.97784	.	.	ENSG00000138792	ENST00000265162	.	.	.	5.76	5.76	0.90799	.	0.164580	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	16.9365	0.86204	0.0:0.8725:0.1275:0.0	.	.	.	.	X	381	.	ENSP00000265162:S381X	S	+	2	0	ENPEP	111650360	0.733000	0.28132	0.927000	0.36925	0.037000	0.13140	3.809000	0.55606	2.709000	0.92574	0.655000	0.94253	TCA		0.453	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2				7	70	0	0	0	0.006214	0	7	70		
SYNPO2	171024	broad.mit.edu	37	4	119947939	119947939	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:119947939G>A	ENST00000429713.2	+	3	597	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SYNPO2_ENST00000307142.4_Missense_Mutation_p.E139K|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E139K|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	139						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGTCAAGACTGAAGTTCCCCT	0.542																																						uc003icm.3		NaN																	0				ovary(2)	2						c.(415-417)GAA>AAA		synaptopodin 2 isoform b							50.0	52.0	51.0					4																	119947939		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119947939G>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.415G>A	4.37:g.119947939G>A	ENSP00000395143:p.Glu139Lys					SYNPO2_uc010ina.2_Missense_Mutation_p.E139K|SYNPO2_uc010inb.2_Missense_Mutation_p.E139K|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.E67K	p.E139K	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			3	611	+			139					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.415G>A	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	G	0.090	-1.168916	0.01660	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.09350	2.99;2.99;2.99	4.78	2.71	0.32032	.	0.756208	0.11973	N	0.511607	T	0.04137	0.0115	N	0.03608	-0.345	0.19300	N	0.999977	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.45411	-0.9263	10	0.08837	T	0.75	-1.8871	7.8983	0.29719	0.2306:0.0:0.7694:0.0	.	139;139;139;139	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	K	139	ENSP00000306015:E139K;ENSP00000395143:E139K;ENSP00000390965:E139K	ENSP00000306015:E139K	E	+	1	0	SYNPO2	120167387	0.113000	0.22115	0.000000	0.03702	0.209000	0.24338	2.782000	0.47758	0.485000	0.27652	0.557000	0.71058	GAA		0.542	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1				7	41	0	0	0	0.006214	0	7	41		
MAD2L1	4085	broad.mit.edu	37	4	120987847	120987847	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:120987847C>T	ENST00000296509.6	-	1	382	c.43G>A	c.(43-45)Ggg>Agg	p.G15R	RP11-679C8.2_ENST00000503073.1_RNA|RP11-679C8.2_ENST00000504106.1_RNA|RP11-679C8.2_ENST00000511064.1_RNA|RP11-679C8.2_ENST00000508362.1_RNA	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	15	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TCGGCGCTCCCGCGCAGGGTG	0.637																																						uc003idl.2		NaN																	0					0						c.(43-45)GGG>AGG		MAD2-like 1							39.0	41.0	40.0					4																	120987847		2203	4300	6503	SO:0001583	missense	4085				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity	g.chr4:120987847C>T	U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.43G>A	4.37:g.120987847C>T	ENSP00000296509:p.Gly15Arg					MAD2L1_uc003idm.2_Missense_Mutation_p.G15R	p.G15R	NM_002358	NP_002349	Q13257	MD2L1_HUMAN			1	167	-			15			HORMA.		Q53F56|Q548X9|Q6IRW7|Q8IZX3	Missense_Mutation	SNP	ENST00000296509.6	37	c.43G>A	CCDS3715.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134809	0.94517	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.23	4.38	0.52667	DNA-binding HORMA (4);	0.050187	0.85682	D	0.000000	T	0.72486	0.3466	M	0.74647	2.275	0.80722	D	1	D;P	0.65815	0.995;0.948	P;P	0.53401	0.725;0.449	T	0.77216	-0.2669	9	0.62326	D	0.03	-10.3291	15.5329	0.75977	0.1393:0.8607:0.0:0.0	.	15;15	Q8IZX3;Q13257	.;MD2L1_HUMAN	R	15	.	ENSP00000296509:G15R	G	-	1	0	MAD2L1	121207295	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.122000	0.64697	1.299000	0.44798	0.591000	0.81541	GGG		0.637	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2				8	63	0	0	0	0.008291	0	8	63		
PLK4	10733	broad.mit.edu	37	4	128811324	128811324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:128811324G>C	ENST00000270861.5	+	7	2037	c.1763G>C	c.(1762-1764)aGa>aCa	p.R588T	PLK4_ENST00000514379.1_Missense_Mutation_p.R547T|PLK4_ENST00000513090.1_Missense_Mutation_p.R556T|PLK4_ENST00000515069.1_Missense_Mutation_p.R510T|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000507249.1_Missense_Mutation_p.R554T	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	588					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CGTACATTAAGAAGCATTACA	0.393																																					Colon(135;508 1718 19061 31832 42879)	uc003ifo.2		NaN																	0					0						c.(1762-1764)AGA>ACA		polo-like kinase 4							83.0	79.0	80.0					4																	128811324		2203	4300	6503	SO:0001583	missense	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128811324G>C	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.1763G>C	4.37:g.128811324G>C	ENSP00000270861:p.Arg588Thr					PLK4_uc011cgs.1_Missense_Mutation_p.R556T|PLK4_uc011cgt.1_Missense_Mutation_p.R547T	p.R588T	NM_014264	NP_055079	O00444	PLK4_HUMAN			7	2008	+			588					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.1763G>C	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823776	0.71143	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.48	3.76	0.43208	.	0.258615	0.36972	N	0.002305	T	0.51924	0.1703	L	0.58810	1.83	0.41174	D	0.986181	D;D	0.76494	0.999;0.998	D;P	0.66196	0.942;0.876	T	0.52939	-0.8508	10	0.72032	D	0.01	-5.3551	11.3012	0.49306	0.1459:0.0:0.8541:0.0	.	556;588	O00444-2;O00444	.;PLK4_HUMAN	T	588;510;556;554;547	ENSP00000270861:R588T;ENSP00000421774:R510T;ENSP00000427554:R556T;ENSP00000423412:R554T;ENSP00000423582:R547T	ENSP00000270861:R588T	R	+	2	0	PLK4	129030774	1.000000	0.71417	0.965000	0.40720	0.975000	0.68041	6.698000	0.74608	0.688000	0.31529	0.491000	0.48974	AGA		0.393	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3				8	40	0	0	0	0.006214	0	8	40		
MAML3	55534	broad.mit.edu	37	4	140646942	140646942	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:140646942C>G	ENST00000509479.2	-	4	3235	c.2379G>C	c.(2377-2379)cgG>cgC	p.R793R	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGTATGGATTCCGCTGTGGCT	0.512																																						uc003ihz.1		NaN																	0				ovary(1)	1						c.(2362-2364)CGG>CGC		mastermind-like 3							96.0	100.0	99.0					4																	140646942		2086	4230	6316	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140646942C>G	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2379G>C	4.37:g.140646942C>G						MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.R256R	p.R788R	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN			6	3116	-	all_hematologic(180;0.162)		789			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.2364G>C	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	C	9.857	1.195315	0.22037	.	.	ENSG00000196782	ENST00000502696	.	.	.	5.29	4.45	0.53987	.	.	.	.	.	T	0.59528	0.2200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56914	-0.7900	4	.	.	.	.	9.0573	0.36414	0.0:0.7486:0.1337:0.1178	.	.	.	.	A	137	.	.	G	-	2	0	MAML3	140866392	1.000000	0.71417	0.988000	0.46212	0.904000	0.53231	1.580000	0.36547	1.227000	0.43598	0.655000	0.94253	GGA		0.512	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2				15	115	0	0	0	0.008871	0	15	115		
GATB	5188	broad.mit.edu	37	4	152682052	152682052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:152682052C>T	ENST00000515812.1	-	1	99	c.83G>A	c.(82-84)aGa>aAa	p.R28K	PET112_ENST00000512306.1_Missense_Mutation_p.R28K|PET112_ENST00000263985.6_Missense_Mutation_p.R28K|PET112_ENST00000508611.1_Missense_Mutation_p.R28K																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						CGGAGCCCCTCTTCGGTGGCA	0.622																																						uc003iml.2		NaN																	0					0						c.(82-84)AGA>AAA		PET112-like precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						49.0	51.0	51.0					4																	152682052		2203	4300	6503	SO:0001583	missense	5188					mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	g.chr4:152682052C>T																												ENST00000515812.1:c.83G>A	4.37:g.152682052C>T	ENSP00000426859:p.Arg28Lys					PET112L_uc003imm.3_Missense_Mutation_p.R28K	p.R28K	NM_004564	NP_004555	O75879	GATB_HUMAN			1	95	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	28						Missense_Mutation	SNP	ENST00000515812.1	37	c.83G>A		.	.	.	.	.	.	.	.	.	.	C	13.24	2.179224	0.38511	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306;ENST00000508611	T;T;T;T	0.44881	1.01;0.98;0.99;0.91	5.23	3.35	0.38373	.	0.374758	0.23780	N	0.044632	T	0.29684	0.0741	L	0.27053	0.805	0.09310	N	1	B;B	0.20261	0.043;0.043	B;B	0.19946	0.027;0.027	T	0.24333	-1.0163	10	0.49607	T	0.09	-30.3816	10.8728	0.46894	0.364:0.636:0.0:0.0	.	28;28	D6RDU9;O75879	.;GATB_HUMAN	K	28	ENSP00000263985:R28K;ENSP00000426859:R28K;ENSP00000420831:R28K;ENSP00000421105:R28K	ENSP00000263985:R28K	R	-	2	0	PET112	152901502	0.001000	0.12720	0.212000	0.23672	0.498000	0.33706	0.108000	0.15396	1.349000	0.45751	0.650000	0.86243	AGA		0.622	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1				8	69	0	0	0	0.006214	0	8	69		
KIAA0922	23240	broad.mit.edu	37	4	154517430	154517430	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:154517430C>T	ENST00000409663.3	+	20	2065	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S	KIAA0922_ENST00000440693.1_Silent_p.S588S|KIAA0922_ENST00000409959.3_Silent_p.S672S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	671						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTGAGGAATCCAGGTTTGGCA	0.413																																						uc003inm.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2011-2013)TCC>TCT		hypothetical protein LOC23240 isoform 2							209.0	183.0	192.0					4																	154517430		2203	4300	6503	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154517430C>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2013C>T	4.37:g.154517430C>T						KIAA0922_uc010ipp.2_Silent_p.S672S|KIAA0922_uc010ipq.2_Silent_p.S440S	p.S671S	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			20	2065	+	all_hematologic(180;0.093)	Renal(120;0.118)	671			Extracellular (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.2013C>T	CCDS3783.2																																																																																				0.413	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1		NM_015196		12	89	0	0	0	0.00245	0	12	89		
PALLD	23022	broad.mit.edu	37	4	169602528	169602528	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:169602528C>G	ENST00000505667.1	+	4	1306	c.1133C>G	c.(1132-1134)tCa>tGa	p.S378*	PALLD_ENST00000261509.6_Nonsense_Mutation_p.S378*|PALLD_ENST00000333488.4_Nonsense_Mutation_p.S255*|PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000335742.7_5'UTR			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	378					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCTTTCAAATCAAGAGCTGGA	0.373									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1		NaN																	0				ovary(1)	1						c.(1132-1134)TCA>TGA		palladin isoform 2							98.0	94.0	96.0					4																	169602528		2203	4300	6503	SO:0001587	stop_gained	23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169602528C>G	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1133C>G	4.37:g.169602528C>G	ENSP00000425556:p.Ser378*					PALLD_uc003iru.2_Nonsense_Mutation_p.S378*|PALLD_uc003irv.2_Translation_Start_Site	p.S378*	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	4	1344	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	378					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Nonsense_Mutation	SNP	ENST00000505667.1	37	c.1133C>G	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385504	0.95967	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	.	.	.	5.72	3.99	0.46301	.	0.370987	0.15537	U	0.257156	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	11.0257	0.47743	0.0:0.7976:0.0:0.2024	.	.	.	.	X	378;378;357;255	.	ENSP00000261509:S378X	S	+	2	0	PALLD	169839103	1.000000	0.71417	0.873000	0.34254	0.890000	0.51754	2.311000	0.43717	1.427000	0.47276	-0.391000	0.06502	TCA		0.373	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1		NM_016081		8	54	0	0	0	0.008291	0	8	54		
GALNTL6	442117	broad.mit.edu	37	4	173269825	173269825	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:173269825G>A	ENST00000506823.1	+	5	1195	c.538G>A	c.(538-540)Gac>Aac	p.D180N	GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.D163N	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	180	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TCTAGTAGATGACTTCAGTGA	0.383																																						uc003isv.2		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(538-540)GAC>AAC		N-acetylgalactosaminyltransferase-like 6							109.0	107.0	107.0					4																	173269825		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173269825G>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.538G>A	4.37:g.173269825G>A	ENSP00000423313:p.Asp180Asn						p.D180N	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			5	1274	+			180			Catalytic subdomain A.|Lumenal (Potential).		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.538G>A	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141439	0.94560	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.69806	-0.43;-0.43	5.38	5.38	0.77491	Glycosyl transferase, family 2 (1);	0.331114	0.21819	N	0.068650	D	0.86648	0.5983	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89599	0.3833	10	0.87932	D	0	.	19.1289	0.93397	0.0:0.0:1.0:0.0	.	180	Q49A17	GLTL6_HUMAN	N	180;180;163	ENSP00000423313:D180N;ENSP00000423827:D163N	ENSP00000385382:D180N	D	+	1	0	GALNTL6	173506400	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.531000	0.85337	0.467000	0.42956	GAC		0.383	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1		NM_001034845		5	46	0	0	0	0.001984	0	5	46		
MORF4	10934	broad.mit.edu	37	4	174537452	174537452	+	IGR	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:174537452A>G								RP11-475B2.1 (21745 upstream) : RP11-161D15.2 (280092 downstream)																							TTTCCATGAGATTTCTTGTAA	0.398																																						uc011cke.1		NaN																	0					0						c.(343-345)TCT>CCT		mortality factor 4							196.0	204.0	202.0					4																	174537452		2202	4298	6500	SO:0001628	intergenic_variant	10934							g.chr4:174537452A>G																													4.37:g.174537452A>G							p.S115P	NM_006792	NP_006783				all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	343	-		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)							Missense_Mutation	SNP		37	c.343T>C																																																																																				0	0.398										13	104	0	0	0	0.001855	0	13	104		
SNX25	83891	broad.mit.edu	37	4	186274687	186274687	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:186274687G>A	ENST00000504273.1	+	15	2317	c.2023G>A	c.(2023-2025)Gat>Aat	p.D675N	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.D675N			Q9H3E2	SNX25_HUMAN	sorting nexin 25	675					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TGATGATGTGGATGGGAGGAA	0.418																																						uc003ixh.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(2023-2025)GAT>AAT		sorting nexin 25							298.0	276.0	283.0					4																	186274687		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186274687G>A	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.2023G>A	4.37:g.186274687G>A	ENSP00000426255:p.Asp675Asn					SNX25_uc010ish.2_Missense_Mutation_p.D391N|SNX25_uc003ixi.2_Missense_Mutation_p.D179N	p.D675N	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	15	2212	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	675					Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.2023G>A	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721448	0.68959	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.10477	2.87;2.87	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.23370	0.0565	L	0.41710	1.295	0.58432	D	0.999999	D;B;B	0.89917	1.0;0.017;0.153	D;B;B	0.66847	0.947;0.006;0.039	T	0.01280	-1.1397	10	0.19147	T	0.46	-24.7871	18.1048	0.89517	0.0:0.0:1.0:0.0	.	391;208;675	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	N	675;675;208	ENSP00000426255:D675N;ENSP00000264694:D675N	ENSP00000264693:D208N	D	+	1	0	SNX25	186511681	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.726000	0.93360	0.585000	0.79938	GAT		0.418	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1		NM_031953		10	72	0	0	0	0.010729	0	10	72		
LRP2BP	55805	broad.mit.edu	37	4	186295477	186295477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:186295477C>T	ENST00000328559.7	-	4	1280	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	LRP2BP_ENST00000505916.1_Missense_Mutation_p.E157K|LRP2BP_ENST00000510776.1_Missense_Mutation_p.E131K|LRP2BP_ENST00000362004.3_Missense_Mutation_p.E159K|RP11-714G18.1_ENST00000514884.1_RNA	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	157						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GATTACCTTTCAGCTTCCTCA	0.413																																						uc003ixj.1		NaN																	0					0						c.(469-471)GAA>AAA		LRP2 binding protein							184.0	172.0	176.0					4																	186295477		2203	4300	6503	SO:0001583	missense	55805					cytoplasm	protein binding	g.chr4:186295477C>T	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.469G>A	4.37:g.186295477C>T	ENSP00000332681:p.Glu157Lys					LRP2BP_uc003ixk.1_Missense_Mutation_p.E131K|LRP2BP_uc011ckr.1_Missense_Mutation_p.E157K	p.E157K	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	4	1281	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	157			Sel1-like 2.		A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	ENST00000328559.7	37	c.469G>A	CCDS3840.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986118	0.93044	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	L	0.38649	1.16	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.52442	-0.8575	10	0.28530	T	0.3	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	131;157	G5E9Z9;Q9P2M1	.;LR2BP_HUMAN	K	159;157;131;157	ENSP00000354846:E159K;ENSP00000332681:E157K;ENSP00000424610:E131K;ENSP00000426203:E157K	ENSP00000332681:E157K	E	-	1	0	LRP2BP	186532471	1.000000	0.71417	0.974000	0.42286	0.832000	0.47134	6.304000	0.72800	2.840000	0.97914	0.655000	0.94253	GAA		0.413	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2		NM_018409		5	72	0	0	0	0.001984	0	5	72		
PLEKHG4B	153478	broad.mit.edu	37	5	155046	155046	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:155046G>A	ENST00000283426.6	+	6	1031	c.981G>A	c.(979-981)ctG>ctA	p.L327L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	327							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCTGCCAGCTGACCGCAGACC	0.572																																						uc003jak.2		NaN																	0				skin(2)	2						c.(979-981)CTG>CTA		pleckstrin homology domain containing, family G							93.0	82.0	85.0					5																	155046		2203	4300	6503	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:155046G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.981G>A	5.37:g.155046G>A							p.L327L	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	6	1031	+			327						Silent	SNP	ENST00000283426.6	37	c.981G>A	CCDS34124.1																																																																																				0.572	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1		NM_052909		24	92	0	0	0	0.005443	0	24	92		
ADAMTS16	170690	broad.mit.edu	37	5	5239963	5239963	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:5239963C>T	ENST00000274181.7	+	16	2586	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	816	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCACTACTTTCGACTACAGAC	0.517																																						uc003jdl.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2446-2448)TTC>TTT		ADAM metallopeptidase with thrombospondin type 1							98.0	96.0	97.0					5																	5239963		1866	4098	5964	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239963C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2448C>T	5.37:g.5239963C>T						ADAMTS16_uc003jdk.1_Silent_p.F816F	p.F816F	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			16	2586	+			816			Spacer.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2448C>T	CCDS43299.1																																																																																				0.517	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1		NM_139056		19	131	0	0	0	0.00278	0	19	131		
NSUN2	54888	broad.mit.edu	37	5	6605470	6605470	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:6605470C>T	ENST00000264670.6	-	15	1964	c.1653G>A	c.(1651-1653)cgG>cgA	p.R551R	NSUN2_ENST00000506139.1_Silent_p.R516R|NSUN2_ENST00000539938.1_Silent_p.R315R	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	551					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CTTCTGTAGTCCGAGTTAACA	0.413																																						uc003jdu.2		NaN																	0				ovary(1)	1						c.(1651-1653)CGG>CGA		NOL1/NOP2/Sun domain family, member 2							165.0	167.0	166.0					5																	6605470		2203	4300	6503	SO:0001819	synonymous_variant	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6605470C>T	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1653G>A	5.37:g.6605470C>T						NSUN2_uc003jds.2_5'Flank|NSUN2_uc003jdt.2_Silent_p.R315R|NSUN2_uc011cmk.1_Silent_p.R516R|NSUN2_uc003jdv.2_Silent_p.R315R	p.R551R	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			15	1718	-			551					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	c.1653G>A	CCDS3869.1																																																																																				0.413	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1		NM_017755		13	126	0	0	0	0.001368	0	13	126		
FAM105A	54491	broad.mit.edu	37	5	14601215	14601215	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:14601215C>T	ENST00000274217.3	+	2	326	c.206C>T	c.(205-207)tCa>tTa	p.S69L		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	69										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CATTTATATTCAGGGCACAAG	0.398																																						uc003jfj.2		NaN																	0				ovary(1)	1						c.(205-207)TCA>TTA		hypothetical protein LOC54491							177.0	168.0	171.0					5																	14601215		2203	4300	6503	SO:0001583	missense	54491							g.chr5:14601215C>T		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.206C>T	5.37:g.14601215C>T	ENSP00000274217:p.Ser69Leu						p.S69L	NM_019018	NP_061891	Q9NUU6	F105A_HUMAN			2	319	+	Lung NSC(4;0.00592)		69					Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	c.206C>T	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.057235	0.00390	.	.	ENSG00000145569	ENST00000274217	T	0.12984	2.63	5.5	4.35	0.52113	.	0.699847	0.13509	N	0.382631	T	0.03739	0.0106	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37291	-0.9712	10	0.02654	T	1	-1.7652	8.9313	0.35672	0.0:0.086:0.0:0.914	.	69	Q9NUU6	F105A_HUMAN	L	69	ENSP00000274217:S69L	ENSP00000274217:S69L	S	+	2	0	FAM105A	14654215	0.374000	0.25081	0.004000	0.12327	0.060000	0.15804	1.560000	0.36331	1.031000	0.39867	-0.302000	0.09304	TCA		0.398	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1		NM_019018		22	208	0	0	0	0.004656	0	22	208		
DROSHA	29102	broad.mit.edu	37	5	31515224	31515224	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:31515224G>C	ENST00000511367.2	-	7	1405	c.1161C>G	c.(1159-1161)atC>atG	p.I387M	DROSHA_ENST00000513349.1_Missense_Mutation_p.I350M|DROSHA_ENST00000442743.1_Missense_Mutation_p.I350M|DROSHA_ENST00000344624.3_Missense_Mutation_p.I387M	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	387					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTTTTTCCTTGATTGAGGTAT	0.468																																						uc003jhg.2		NaN																	0					0						c.(1159-1161)ATC>ATG		ribonuclease III, nuclear isoform 1							156.0	149.0	151.0					5																	31515224		1867	4102	5969	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31515224G>C	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1161C>G	5.37:g.31515224G>C	ENSP00000425979:p.Ile387Met					RNASEN_uc003jhh.2_Missense_Mutation_p.I350M|RNASEN_uc003jhi.2_Missense_Mutation_p.I350M|RNASEN_uc010iui.1_Missense_Mutation_p.I310M	p.I387M	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			7	1520	-			387					E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.1161C>G	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.168|9.168	1.020316|1.020316	0.19433|0.19433	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302|ENST00000512076	T;T;T;T;T|.	0.53206|.	0.63;0.63;0.63;0.63;0.63|.	5.64|5.64	2.74|2.74	0.32292|0.32292	.|.	0.440276|.	0.25484|.	N|.	0.030350|.	T|T	0.29588|0.29588	0.0738|0.0738	N|N	0.14661|0.14661	0.345|0.345	0.36398|0.36398	D|D	0.86292|0.86292	P;B;B|.	0.36048|.	0.534;0.263;0.263|.	B;B;B|.	0.33196|.	0.159;0.038;0.038|.	T|T	0.18398|0.18398	-1.0338|-1.0338	10|5	0.48119|.	T|.	0.1|.	-6.8215|-6.8215	6.2227|6.2227	0.20691|0.20691	0.2153:0.1342:0.6505:0.0|0.2153:0.1342:0.6505:0.0	.|.	319;350;387|.	Q9NRR4-2;E7EMP9;Q9NRR4|.	.;.;RNC_HUMAN|.	M|E	387;387;350;350;312;343;154|149	ENSP00000425979:I387M;ENSP00000339845:I387M;ENSP00000409335:I350M;ENSP00000424161:I350M;ENSP00000428782:I154M|.	ENSP00000265075:I312M|.	I|Q	-|-	3|1	3|0	DROSHA|DROSHA	31550981|31550981	0.999000|0.999000	0.42202|0.42202	0.890000|0.890000	0.34922|0.34922	0.271000|0.271000	0.26615|0.26615	1.404000|1.404000	0.34623|0.34623	0.739000|0.739000	0.32628|0.32628	-0.291000|-0.291000	0.09656|0.09656	ATC|CAA		0.468	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3		NM_013235		7	65	0	0	0	0.001984	0	7	65		
MTMR12	54545	broad.mit.edu	37	5	32229910	32229910	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:32229910C>G	ENST00000382142.3	-	16	2388	c.2218G>C	c.(2218-2220)Gag>Cag	p.E740Q	MTMR12_ENST00000280285.5_Missense_Mutation_p.E686Q|MTMR12_ENST00000264934.5_Missense_Mutation_p.E630Q|MTMR12_ENST00000510216.1_5'Flank	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	740						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCACGAACTCATCTTCTCGT	0.507																																						uc003jhq.2		NaN																	0				ovary(1)	1						c.(2218-2220)GAG>CAG		myotubularin related protein 12							154.0	135.0	142.0					5																	32229910		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32229910C>G	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.2218G>C	5.37:g.32229910C>G	ENSP00000371577:p.Glu740Gln					MTMR12_uc010iuk.2_Missense_Mutation_p.E686Q|MTMR12_uc010iul.2_Missense_Mutation_p.E630Q	p.E740Q	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			16	2388	-			740					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.2218G>C	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063455	0.76187	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.97404	-4.37;-3.7;-3.83	5.02	5.02	0.67125	.	0.351538	0.29480	N	0.012035	D	0.97102	0.9053	L	0.27053	0.805	0.29592	N	0.848373	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.996;0.997;0.994	D	0.94442	0.7659	10	0.87932	D	0	.	17.9465	0.89040	0.0:1.0:0.0:0.0	.	630;686;740	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	Q	686;740;630	ENSP00000280285:E686Q;ENSP00000371577:E740Q;ENSP00000264934:E630Q	ENSP00000264934:E630Q	E	-	1	0	MTMR12	32265667	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.863000	0.69568	2.327000	0.79052	0.462000	0.41574	GAG		0.507	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1		NM_019061		14	104	0	0	0	0.003163	0	14	104		
RXFP3	51289	broad.mit.edu	37	5	33937059	33937059	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:33937059G>C	ENST00000330120.3	+	1	569	c.214G>C	c.(214-216)Gag>Cag	p.E72Q		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	72					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CGGCGGGGCAGAGAGCGCGGA	0.692																																						uc003jic.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(214-216)GAG>CAG		relaxin/insulin-like family peptide receptor 3							40.0	51.0	47.0					5																	33937059		2201	4298	6499	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937059G>C	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.214G>C	5.37:g.33937059G>C	ENSP00000328708:p.Glu72Gln						p.E72Q	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	571	+			72			Extracellular (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.214G>C	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	8.251	0.809094	0.16537	.	.	ENSG00000182631	ENST00000330120	T	0.70986	-0.53	4.84	4.84	0.62591	.	0.641711	0.12946	N	0.426199	T	0.56366	0.1980	N	0.19112	0.55	0.09310	N	0.99999	B	0.34103	0.437	B	0.32289	0.143	T	0.40251	-0.9573	10	0.15066	T	0.55	.	16.8858	0.86075	0.0:0.0:1.0:0.0	.	72	Q9NSD7	RL3R1_HUMAN	Q	72	ENSP00000328708:E72Q	ENSP00000328708:E72Q	E	+	1	0	RXFP3	33972816	0.977000	0.34250	0.007000	0.13788	0.065000	0.16274	2.582000	0.46085	2.408000	0.81797	0.655000	0.94253	GAG		0.692	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1		NM_016568		10	142	0	0	0	0.001368	0	10	142		
UGT3A2	167127	broad.mit.edu	37	5	36035959	36035959	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:36035959G>A	ENST00000282507.3	-	7	1514	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	UGT3A2_ENST00000545528.1_Silent_p.L169L|UGT3A2_ENST00000513300.1_Silent_p.L437L	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	471					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATAGGGCTTGAGGTGCGTCG	0.617																																						uc003jjz.1		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1411-1413)CTC>CTT		UDP glycosyltransferase 3 family, polypeptide A2							58.0	51.0	53.0					5																	36035959		2203	4300	6503	SO:0001819	synonymous_variant	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36035959G>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1413C>T	5.37:g.36035959G>A						UGT3A2_uc011cos.1_Silent_p.L437L|UGT3A2_uc011cot.1_Silent_p.L169L	p.L471L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1506	-	all_lung(31;0.000179)		471			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	ENST00000282507.3	37	c.1413C>T	CCDS3914.1																																																																																				0.617	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2		NM_174914		13	54	0	0	0	0.00499	0	13	54		
SLC1A3	6507	broad.mit.edu	37	5	36677231	36677231	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:36677231G>C	ENST00000265113.4	+	6	1281	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.E269Q	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	269					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCCCTGAGAGAGTTCTTTGA	0.413																																						uc003jkj.3		NaN																	0					0						c.(805-807)GAG>CAG		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)						123.0	120.0	121.0					5																	36677231		2203	4300	6503	SO:0001583	missense	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36677231G>C		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.805G>C	5.37:g.36677231G>C	ENSP00000265113:p.Glu269Gln					SLC1A3_uc011cox.1_Missense_Mutation_p.E162Q|SLC1A3_uc010iuy.2_Missense_Mutation_p.E269Q	p.E269Q	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1281	+	all_lung(31;0.000245)		269					B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	c.805G>C	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290967	0.59976	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.59224	0.28;0.28	5.92	5.92	0.95590	.	0.437279	0.28889	N	0.013818	T	0.48786	0.1519	N	0.21097	0.63	0.50467	D	0.999876	B;B	0.12630	0.0;0.006	B;B	0.16722	0.016;0.005	T	0.30650	-0.9971	10	0.36615	T	0.2	-3.8041	20.3206	0.98668	0.0:0.0:1.0:0.0	.	269;269	Q4JCQ8;P43003	.;EAA1_HUMAN	Q	269;217;269	ENSP00000265113:E269Q;ENSP00000371343:E269Q	ENSP00000265113:E269Q	E	+	1	0	SLC1A3	36712988	1.000000	0.71417	0.453000	0.27007	0.481000	0.33189	6.653000	0.74382	2.809000	0.96659	0.655000	0.94253	GAG		0.413	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2		NM_004172		4	57	0	0	0	0.000602	0	4	57		
C5orf42	65250	broad.mit.edu	37	5	37174003	37174003	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:37174003G>A	ENST00000508244.1	-	31	6118	c.6025C>T	c.(6025-6027)Ctg>Ttg	p.L2009L	C5orf42_ENST00000274258.7_Silent_p.L889L|C5orf42_ENST00000425232.2_Silent_p.L2009L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2009						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTTGATATCAGAAGTGGAACT	0.373																																						uc011cpa.1		NaN																	0				ovary(4)|breast(2)|skin(1)	7						c.(6025-6027)CTG>TTG		hypothetical protein LOC65250							113.0	109.0	111.0					5																	37174003		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37174003G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6025C>T	5.37:g.37174003G>A						C5orf42_uc011coy.1_Silent_p.L509L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.L1084L|C5orf42_uc003jkr.1_Silent_p.L42L	p.L2009L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		32	6256	-	all_lung(31;0.000616)		2009					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.6025C>T	CCDS34146.2																																																																																				0.373	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1		NM_023073		3	55	0	0	0	0.000602	0	3	55		
SNX18	112574	broad.mit.edu	37	5	53813855	53813855	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:53813855G>A	ENST00000326277.3	+	1	263	c.73G>A	c.(73-75)Gag>Aag	p.E25K	SNX18_ENST00000381410.4_Missense_Mutation_p.E25K|SNX18_ENST00000343017.6_Missense_Mutation_p.E25K	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	25	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GCGAGAGCACGAGGTGCTGAG	0.706																																						uc003jpj.3		NaN																	0					0						c.(73-75)GAG>AAG		sorting nexin 18 isoform b							7.0	8.0	8.0					5																	53813855		2150	4204	6354	SO:0001583	missense	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53813855G>A	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.73G>A	5.37:g.53813855G>A	ENSP00000317332:p.Glu25Lys					SNX18_uc011cqg.1_Missense_Mutation_p.E25K|SNX18_uc003jpi.3_Missense_Mutation_p.E25K	p.E25K	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN			1	263	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	25			SH3.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	c.73G>A	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466765	0.84425	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	T;T;T	0.58358	0.34;0.34;0.34	3.82	3.82	0.43975	Src homology-3 domain (4);	0.142348	0.51477	D	0.000099	T	0.77384	0.4122	M	0.91196	3.185	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;P	0.81914	0.995;0.776	D	0.84272	0.0489	10	0.87932	D	0	-26.2397	15.4985	0.75677	0.0:0.0:1.0:0.0	.	25;25	Q96RF0;Q96RF0-2	SNX18_HUMAN;.	K	25	ENSP00000342276:E25K;ENSP00000370817:E25K;ENSP00000317332:E25K	ENSP00000317332:E25K	E	+	1	0	SNX18	53849612	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	6.898000	0.75676	1.952000	0.56665	0.305000	0.20034	GAG		0.706	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2				3	14	0	0	0	0.004672	0	3	14		
ANKRD55	79722	broad.mit.edu	37	5	55407501	55407501	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:55407501C>T	ENST00000341048.4	-	10	1225	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	ANKRD55_ENST00000434982.2_Silent_p.Q70Q|ANKRD55_ENST00000504958.2_Silent_p.Q315Q|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	358										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GATGGGCTCTCTGCTCTTCTT	0.522																																						uc003jqu.2		NaN																	0				skin(1)	1						c.(1072-1074)CAG>CAA		ankyrin repeat domain 55 isoform 1							218.0	212.0	214.0					5																	55407501		2203	4300	6503	SO:0001819	synonymous_variant	79722							g.chr5:55407501C>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1074G>A	5.37:g.55407501C>T						ANKRD55_uc003jqt.2_Silent_p.Q70Q	p.Q358Q	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN			10	1226	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	357					B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	ENST00000341048.4	37	c.1074G>A	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	.	13.03	2.116120	0.37339	.	.	ENSG00000164512	ENST00000505970	.	.	.	5.46	3.67	0.42095	.	.	.	.	.	T	0.62307	0.2417	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58989	-0.7538	5	0.36615	T	0.2	.	11.6048	0.51026	0.0:0.8071:0.1249:0.068	.	.	.	.	K	103	.	ENSP00000422370:R103K	R	-	2	0	ANKRD55	55443258	0.993000	0.37304	0.914000	0.36105	0.982000	0.71751	0.901000	0.28445	0.784000	0.33661	-0.261000	0.10672	AGA		0.522	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4		NM_024669		13	130	0	0	0	0.00245	0	13	130		
MAP3K1	4214	broad.mit.edu	37	5	56178366	56178366	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:56178366C>T	ENST00000399503.3	+	14	3339	c.3339C>T	c.(3337-3339)ttC>ttT	p.F1113F		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1113					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGACAGTGTTCACCCCAGTAG	0.433																																						uc003jqw.3		NaN																	0				ovary(1)|skin(1)	2						c.(3337-3339)TTC>TTT		mitogen-activated protein kinase kinase kinase							122.0	117.0	119.0					5																	56178366		1987	4173	6160	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56178366C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3339C>T	5.37:g.56178366C>T							p.F1113F	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	3840	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1113						Silent	SNP	ENST00000399503.3	37	c.3339C>T	CCDS43318.1																																																																																				0.433	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2		XM_042066		6	48	0	0	0	0.004482	0	6	48		
ELOVL7	79993	broad.mit.edu	37	5	60050591	60050591	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:60050591G>T	ENST00000508821.1	-	9	1020	c.706C>A	c.(706-708)Cca>Aca	p.P236T	ELOVL7_ENST00000425382.1_Missense_Mutation_p.P236T|ELOVL7_ENST00000505959.1_Missense_Mutation_p.P223T|ELOVL7_ENST00000438340.1_Missense_Mutation_p.P236T	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	236					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GCAAAGACTGGAAACTGATAC	0.393																																						uc003jsi.3		NaN																	0					0						c.(706-708)CCA>ACA		elongation of very long chain fatty acids-like							105.0	96.0	99.0					5																	60050591		2203	4300	6503	SO:0001583	missense	79993				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr5:60050591G>T	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.706C>A	5.37:g.60050591G>T	ENSP00000424123:p.Pro236Thr					ELOVL7_uc011cqo.1_Missense_Mutation_p.P149T|ELOVL7_uc010iwk.2_Missense_Mutation_p.P236T|ELOVL7_uc003jsj.3_Missense_Mutation_p.P223T	p.P236T	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN			9	906	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	236					Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	ENST00000508821.1	37	c.706C>A	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610688	0.87258	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	L	0.57130	1.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.04693	-1.0933	10	0.34782	T	0.22	-8.8501	20.2469	0.98398	0.0:0.0:1.0:0.0	.	223;236	D6RHD0;A1L3X0	.;ELOV7_HUMAN	T	236;236;236;223	ENSP00000424123:P236T;ENSP00000411255:P236T;ENSP00000402634:P236T;ENSP00000421043:P223T	ENSP00000402634:P236T	P	-	1	0	ELOVL7	60086348	1.000000	0.71417	0.982000	0.44146	0.781000	0.44180	9.428000	0.97476	2.781000	0.95711	0.555000	0.69702	CCA		0.393	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1				5	23	1	0	0.00116845	0.001168	0.00119519	5	23		
HTR1A	3350	broad.mit.edu	37	5	63257087	63257087	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:63257087C>T	ENST00000323865.3	-	1	693	c.460G>A	c.(460-462)Gct>Act	p.A154T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	154				RAA -> PR (in Ref. 1; AAA36440/CAA31908). {ECO:0000305}.	adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ATGAGCGCAGCGGCGCGCCGG	0.647																																						uc011cqt.1		NaN																	0				ovary(2)|pancreas(2)	4						c.(460-462)GCT>ACT		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						78.0	89.0	85.0					5																	63257087		2203	4299	6502	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257087C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.460G>A	5.37:g.63257087C>T	ENSP00000316244:p.Ala154Thr						p.A154T	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	460	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	154	RAA -> PR (in Ref. 1; AAA36440/CAA31908).		Helical; Name=4; (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.460G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866794	0.51588	.	.	ENSG00000178394	ENST00000323865	T	0.37752	1.18	5.6	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.053223	0.85682	D	0.000000	T	0.48624	0.1510	M	0.67569	2.06	0.80722	D	1	D	0.58620	0.983	P	0.54460	0.753	T	0.44528	-0.9322	10	0.16896	T	0.51	.	15.5687	0.76317	0.0:0.8617:0.1383:0.0	.	154	P08908	5HT1A_HUMAN	T	154	ENSP00000316244:A154T	ENSP00000316244:A154T	A	-	1	0	HTR1A	63292843	1.000000	0.71417	0.998000	0.56505	0.209000	0.24338	7.818000	0.86416	1.347000	0.45714	-0.175000	0.13238	GCT		0.647	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1		NM_000524		17	60	0	0	0	0.004007	0	17	60		
BDP1	55814	broad.mit.edu	37	5	70860685	70860685	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:70860685C>G	ENST00000358731.4	+	39	8111	c.7848C>G	c.(7846-7848)atC>atG	p.I2616M	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2616					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCAATGATATCTTCATTGAAG	0.368																																						uc003kbp.1		NaN																	0				skin(2)	2						c.(7846-7848)ATC>ATG		transcription factor-like nuclear regulator							89.0	89.0	89.0					5																	70860685		1793	4071	5864	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70860685C>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7848C>G	5.37:g.70860685C>G	ENSP00000351575:p.Ile2616Met					BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	p.I2616M	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	39	8111	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2616					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.7848C>G	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162095	0.57368	.	.	ENSG00000145734	ENST00000358731	T	0.08984	3.03	5.51	1.12	0.20585	.	0.000000	0.53938	D	0.000044	T	0.18341	0.0440	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02464	-1.1155	10	0.87932	D	0	.	3.1862	0.06602	0.3703:0.4248:0.0:0.205	.	2616	A6H8Y1	BDP1_HUMAN	M	2616	ENSP00000351575:I2616M	ENSP00000351575:I2616M	I	+	3	3	BDP1	70896441	0.990000	0.36364	1.000000	0.80357	0.998000	0.95712	-0.039000	0.12124	0.650000	0.30769	0.655000	0.94253	ATC		0.368	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2		NM_018429		8	73	0	0	0	0.00308	0	8	73		
MAP1B	4131	broad.mit.edu	37	5	71492567	71492567	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:71492567G>A	ENST00000296755.7	+	5	3683	c.3385G>A	c.(3385-3387)Gag>Aag	p.E1129K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1129					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GATATCCAGTGAGCCCACCCC	0.512																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NaN																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(3385-3387)GAG>AAG		microtubule-associated protein 1B							54.0	51.0	52.0					5																	71492567		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492567G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3385G>A	5.37:g.71492567G>A	ENSP00000296755:p.Glu1129Lys					MAP1B_uc010iyw.1_Missense_Mutation_p.E1146K|MAP1B_uc010iyx.1_Missense_Mutation_p.E1003K|MAP1B_uc010iyy.1_Missense_Mutation_p.E1003K	p.E1129K	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	3626	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1129					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.3385G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478942	0.63849	.	.	ENSG00000131711	ENST00000296755	T	0.03330	3.97	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000003	T	0.05456	0.0144	N	0.08118	0	0.53688	D	0.999972	D;D	0.63880	0.993;0.993	P;P	0.52957	0.714;0.714	T	0.60586	-0.7234	10	0.32370	T	0.25	-26.6075	20.032	0.97543	0.0:0.0:1.0:0.0	.	1003;1129	A2BDK6;P46821	.;MAP1B_HUMAN	K	1129	ENSP00000296755:E1129K	ENSP00000296755:E1129K	E	+	1	0	MAP1B	71528323	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.376000	0.79658	2.743000	0.94032	0.655000	0.94253	GAG		0.512	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6		NM_005909		6	42	0	0	0	0.004482	0	6	42		
S100Z	170591	broad.mit.edu	37	5	76171199	76171199	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:76171199C>T	ENST00000317593.4	+	3	247	c.15C>T	c.(13-15)ctC>ctT	p.L5L	S100Z_ENST00000513010.1_Silent_p.L5L	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	5							calcium ion binding (GO:0005509)			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		CCACCCAGCTCGAGATGGCCA	0.522																																						uc003kep.1		NaN																	0				ovary(1)	1						c.(13-15)CTC>CTT		S100 calcium binding protein Z							43.0	46.0	45.0					5																	76171199		2005	4170	6175	SO:0001819	synonymous_variant	170591						calcium ion binding	g.chr5:76171199C>T	AF437876	CCDS43333.1	5q13.3	2014-08-12	2006-09-11		ENSG00000171643	ENSG00000171643		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	30367	protein-coding gene	gene with protein product		610103	"""S100 calcium binding protein, zeta"""			11747429	Standard	NM_130772		Approved	Gm625, S100-zeta	uc003keq.4	Q8WXG8	OTTHUMG00000162441	ENST00000317593.4:c.15C>T	5.37:g.76171199C>T						S100Z_uc003keq.3_Silent_p.L5L	p.L5L	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)	3	345	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	5						Silent	SNP	ENST00000317593.4	37	c.15C>T	CCDS43333.1																																																																																				0.522	S100Z-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368927.1		NM_130772		5	27	0	0	0	0.001168	0	5	27		
SPZ1	84654	broad.mit.edu	37	5	79616517	79616517	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:79616517C>G	ENST00000296739.4	+	1	728	c.483C>G	c.(481-483)atC>atG	p.I161M		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	161					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAGAAAATATCAGAGGACTTG	0.373																																						uc003kgn.2		NaN																	0				ovary(1)	1						c.(481-483)ATC>ATG		spermatogenic leucine zipper 1							58.0	52.0	54.0					5																	79616517		1810	4071	5881	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616517C>G		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.483C>G	5.37:g.79616517C>G	ENSP00000369611:p.Ile161Met					uc011ctk.1_Intron	p.I161M	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	728	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	161					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.483C>G	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	C	7.610	0.674631	0.14841	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.53857	0.6;1.11	1.64	1.64	0.23874	.	0.458491	0.16205	N	0.224749	T	0.38612	0.1047	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.55667	0.781	T	0.10520	-1.0626	10	0.35671	T	0.21	-10.7261	5.3559	0.16061	0.3351:0.6649:0.0:0.0	.	161	Q9BXG8	SPZ1_HUMAN	M	161	ENSP00000426530:I161M;ENSP00000369611:I161M	ENSP00000369611:I161M	I	+	3	3	SPZ1	79652273	0.052000	0.20516	0.058000	0.19502	0.315000	0.28087	1.396000	0.34531	1.277000	0.44412	0.383000	0.25322	ATC		0.373	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1		NM_032567		4	35	0	0	0	0.001168	0	4	35		
APC	324	broad.mit.edu	37	5	112174757	112174757	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:112174757G>T	ENST00000457016.1	+	16	3846	c.3466G>T	c.(3466-3468)Gaa>Taa	p.E1156*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.E1156*|APC_ENST00000257430.4_Nonsense_Mutation_p.E1156*			P25054	APC_HUMAN	adenomatous polyposis coli	1156	Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCATGAAGAAGAAGAGAGACC	0.338		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		1	Unknown(1)	p.E1156fs*8(1)|p.?(1)	skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(3466-3468)GAA>TAA		adenomatous polyposis coli							59.0	60.0	59.0					5																	112174757		2202	4300	6502	SO:0001587	stop_gained	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112174757G>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3466G>T	5.37:g.112174757G>T	ENSP00000413133:p.Glu1156*	TSP Lung(16;0.13)				APC_uc011cvt.1_Nonsense_Mutation_p.E1138*|APC_uc003kpz.3_Nonsense_Mutation_p.E1156*|APC_uc003kpy.3_Nonsense_Mutation_p.E1156*|APC_uc010jbz.2_Nonsense_Mutation_p.E873*|APC_uc010jca.2_Nonsense_Mutation_p.E456*	p.E1156*	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	3846	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1156			Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.|Asp/Glu-rich (acidic).		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.3466G>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	37	6.485030	0.97603	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.76	5.76	0.90799	.	0.071084	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.157	19.9738	0.97296	0.0:0.0:1.0:0.0	.	.	.	.	X	1156	.	.	E	+	1	0	APC	112202656	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.233000	0.72320	2.732000	0.93576	0.655000	0.94253	GAA		0.338	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		NM_000038		6	20	1	0	3.59834e-05	0.001168	3.71589e-05	6	20		
ZNF608	57507	broad.mit.edu	37	5	124036729	124036729	+	Silent	SNP	G	G	A	rs533684241		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:124036729G>A	ENST00000306315.5	-	2	1575	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	380							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CATGCCACACGATCCCTTCCA	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		18068	0.0		0.001	False		,,,				2504	0.0					uc003ktq.1		NaN																	0				skin(3)|ovary(2)|lung(1)	6						c.(1138-1140)ATC>ATT		zinc finger protein 608							104.0	99.0	101.0					5																	124036729		2203	4300	6503	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:124036729G>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1140C>T	5.37:g.124036729G>A						ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Silent_p.I380I|ZNF608_uc003ktt.1_Silent_p.I380I	p.I380I	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	2	1263	-		all_cancers(142;0.186)|Prostate(80;0.081)	380					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.1140C>T	CCDS34219.1																																																																																				0.443	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1		XM_114432		3	71	0	0	0	0.009096	0	3	71		
CDKN2AIPNL	91368	broad.mit.edu	37	5	133747454	133747454	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:133747454G>C	ENST00000458198.2	-	1	135	c.92C>G	c.(91-93)tCa>tGa	p.S31*	CDKN2AIPNL_ENST00000395009.3_Nonsense_Mutation_p.S31*	NM_080656.2	NP_542387.1	Q96HQ2	C2AIL_HUMAN	CDKN2A interacting protein N-terminal like	31										central_nervous_system(1)|kidney(2)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCGCTCTCTGAGTAGGAGCG	0.697											OREG0016789	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011cxs.1		NaN																	0					0						c.(91-93)TCA>TGA		CDKN2A interacting protein N-terminal like							11.0	14.0	13.0					5																	133747454		2199	4293	6492	SO:0001587	stop_gained	91368							g.chr5:133747454G>C	BC008293	CCDS4175.1	5q31.1	2008-02-05			ENSG00000237190	ENSG00000237190			30545	protein-coding gene	gene with protein product						12477932	Standard	NM_080656		Approved	MGC13017	uc011cxs.2	Q96HQ2	OTTHUMG00000129123	ENST00000458198.2:c.92C>G	5.37:g.133747454G>C	ENSP00000394183:p.Ser31*		OREG0016789	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1605	CDKN2AIPNL_uc003kzi.1_Nonsense_Mutation_p.S31*	p.S31*	NM_080656	NP_542387	Q96HQ2	C2AIL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	136	-			31					Q8WVE3	Nonsense_Mutation	SNP	ENST00000458198.2	37	c.92C>G	CCDS4175.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268400	0.95429	.	.	ENSG00000237190	ENST00000458198;ENST00000395009	.	.	.	4.46	3.59	0.41128	.	0.068657	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	0.1157	7.6673	0.28439	0.0915:0.1658:0.7427:0.0	.	.	.	.	X	31	.	ENSP00000378456:S31X	S	-	2	0	CDKN2AIPNL	133775353	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	3.320000	0.51991	1.248000	0.43934	0.491000	0.48974	TCA		0.697	CDKN2AIPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251171.2		NM_080656		6	33	0	0	0	0.00308	0	6	33		
SEC24A	10802	broad.mit.edu	37	5	134022530	134022530	+	Missense_Mutation	SNP	C	C	G	rs541115478	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:134022530C>G	ENST00000398844.2	+	10	1830	c.1542C>G	c.(1540-1542)caC>caG	p.H514Q	SEC24A_ENST00000322887.4_Missense_Mutation_p.H514Q	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	514					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGTGTCTCACAATGCAGTCG	0.333																																						uc003kzs.2		NaN																	0					0						c.(1540-1542)CAC>CAG		SEC24 related gene family, member A							120.0	109.0	112.0					5																	134022530		1851	4105	5956	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134022530C>G	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1542C>G	5.37:g.134022530C>G	ENSP00000381823:p.His514Gln					SEC24A_uc011cxu.1_Missense_Mutation_p.H278Q	p.H514Q	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1830	+			514					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.1542C>G	CCDS43363.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.49|11.49	1.654423|1.654423	0.29425|0.29425	.|.	.|.	ENSG00000113615|ENSG00000113615	ENST00000398844;ENST00000322887|ENST00000513123	T;T|.	0.73681|.	-0.77;-0.77|.	5.8|5.8	0.556|0.556	0.17253|0.17253	Sec23/Sec24, trunk domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45256|0.45256	0.1333|0.1333	N|N	0.21583|0.21583	0.68|0.68	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.31227|.	0.314;0.16|.	B;B|.	0.37015|.	0.144;0.239|.	T|T	0.13045|0.13045	-1.0524|-1.0524	10|5	0.27785|.	T|.	0.31|.	-17.6217|-17.6217	10.345|10.345	0.43901|0.43901	0.0:0.5614:0.0:0.4386|0.0:0.5614:0.0:0.4386	.|.	278;514|.	B4E205;O95486|.	.;SC24A_HUMAN|.	Q|R	514|60	ENSP00000381823:H514Q;ENSP00000321749:H514Q|.	ENSP00000321749:H514Q|.	H|T	+|+	3|2	2|0	SEC24A|SEC24A	134050429|134050429	0.997000|0.997000	0.39634|0.39634	0.993000|0.993000	0.49108|0.49108	0.996000|0.996000	0.88848|0.88848	0.529000|0.529000	0.23019|0.23019	-0.206000|-0.206000	0.10203|0.10203	0.563000|0.563000	0.77884|0.77884	CAC|ACA		0.333	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1				4	73	0	0	0	0.001168	0	4	73		
SEC24A	10802	broad.mit.edu	37	5	134032871	134032871	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:134032871C>G	ENST00000398844.2	+	14	2330	c.2042C>G	c.(2041-2043)tCt>tGt	p.S681C		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	681					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGACTGTTCTGGTCAGCAA	0.328																																						uc003kzs.2		NaN																	0					0						c.(2041-2043)TCT>TGT		SEC24 related gene family, member A							180.0	166.0	170.0					5																	134032871		1851	4101	5952	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134032871C>G	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2042C>G	5.37:g.134032871C>G	ENSP00000381823:p.Ser681Cys					SEC24A_uc011cxu.1_Missense_Mutation_p.S445C	p.S681C	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		14	2330	+			681					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.2042C>G	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875531	0.91664	.	.	ENSG00000113615	ENST00000398844	T	0.76316	-1.01	5.59	5.59	0.84812	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.87900	0.6294	M	0.84511	2.7	0.80722	D	1	D;D	0.60160	0.98;0.987	P;P	0.57324	0.784;0.818	D	0.88566	0.3126	10	0.52906	T	0.07	-19.3832	19.5944	0.95530	0.0:1.0:0.0:0.0	.	445;681	B4E205;O95486	.;SC24A_HUMAN	C	681	ENSP00000381823:S681C	ENSP00000381823:S681C	S	+	2	0	SEC24A	134060770	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.818000	0.86416	2.627000	0.88993	0.563000	0.77884	TCT		0.328	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1				12	89	0	0	0	0.003163	0	12	89		
MATR3	9782	broad.mit.edu	37	5	138643642	138643642	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:138643642G>A	ENST00000394805.3	+	2	873	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	MATR3_ENST00000509990.1_Missense_Mutation_p.E180K|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.E180K|MATR3_ENST00000361059.2_Missense_Mutation_p.E180K|MATR3_ENST00000510056.1_Missense_Mutation_p.E180K|MATR3_ENST00000394800.2_Missense_Mutation_p.E180K|MATR3_ENST00000504203.1_Intron	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	180					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGATTGGGAAGAAAAAAGGCA	0.453																																						uc003ldu.2		NaN																	0				ovary(1)	1						c.(538-540)GAA>AAA		matrin 3							116.0	110.0	112.0					5																	138643642		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138643642G>A	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.538G>A	5.37:g.138643642G>A	ENSP00000378284:p.Glu180Lys					MATR3_uc003lds.2_Missense_Mutation_p.E180K|MATR3_uc010jfb.2_Missense_Mutation_p.E180K|MATR3_uc003ldt.2_Intron|MATR3_uc003ldw.2_Missense_Mutation_p.E180K|MATR3_uc003ldx.2_Missense_Mutation_p.E180K|MATR3_uc010jfc.2_Missense_Mutation_p.E180K|MATR3_uc003ldy.2_Intron|MATR3_uc011czb.1_Intron|MATR3_uc003ldz.2_Missense_Mutation_p.E180K|MATR3_uc003lea.2_Missense_Mutation_p.E180K	p.E180K	NM_199189	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		5	965	+			180					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.538G>A	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946698	0.73672	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000504045;ENST00000510056	T;T;T;T;T;T;T	0.80566	-1.07;-1.07;-1.09;-1.09;-1.07;-1.39;-1.07	5.53	5.53	0.82687	.	0.424311	0.30437	N	0.009630	T	0.79673	0.4486	N	0.14661	0.345	0.53688	D	0.99997	P;P;P	0.47762	0.9;0.713;0.9	B;P;B	0.54815	0.162;0.761;0.162	T	0.81048	-0.1109	10	0.48119	T	0.1	-16.4019	19.8241	0.96610	0.0:0.0:1.0:0.0	.	180;180;180	D6REM6;A8MXP9;P43243	.;.;MATR3_HUMAN	K	180	ENSP00000423533:E180K;ENSP00000354346:E180K;ENSP00000422319:E180K;ENSP00000378279:E180K;ENSP00000378284:E180K;ENSP00000423290:E180K;ENSP00000426743:E180K	ENSP00000354346:E180K	E	+	1	0	MATR3	138671541	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.510000	0.90532	2.758000	0.94735	0.655000	0.94253	GAA		0.453	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2		NM_018834		6	30	0	0	0	0.00308	0	6	30		
PCDHB1	29930	broad.mit.edu	37	5	140432123	140432123	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140432123C>A	ENST00000306549.3	+	1	1145	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	356	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGCCCACTCCCTGAAGACT	0.537																																						uc003lik.1		NaN																	0					0						c.(1066-1068)CTC>CTA		protocadherin beta 1 precursor							118.0	108.0	112.0					5																	140432123		2203	4300	6503	SO:0001819	synonymous_variant	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432123C>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1068C>A	5.37:g.140432123C>A							p.L356L	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1145	+			356			Cadherin 4.|Extracellular (Potential).		Q2M257	Silent	SNP	ENST00000306549.3	37	c.1068C>A	CCDS4243.1																																																																																				0.537	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2		NM_013340		11	80	1	0	4.3838e-07	0.001855	4.58548e-07	11	80		
PCDHB13	56123	broad.mit.edu	37	5	140594403	140594403	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140594403C>T	ENST00000341948.4	+	1	895	c.708C>T	c.(706-708)gtC>gtT	p.V236V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	236	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGATGTCAACGATAATG	0.532																																						uc003lja.1		NaN																	0				skin(2)|ovary(1)	3						c.(706-708)GTC>GTT		protocadherin beta 13 precursor							173.0	180.0	177.0					5																	140594403		2203	4300	6503	SO:0001819	synonymous_variant	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594403C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.708C>T	5.37:g.140594403C>T							p.V236V	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	895	+			236			Cadherin 2.|Extracellular (Potential).		A8K9V6	Silent	SNP	ENST00000341948.4	37	c.708C>T	CCDS4255.1																																																																																				0.532	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1		NM_018933		20	189	0	0	0	0.004656	0	20	189		
PCDHGA4	56111	broad.mit.edu	37	5	140736611	140736611	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140736611G>A	ENST00000571252.1	+	1	1844	c.1844G>A	c.(1843-1845)gGa>gAa	p.G615E	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	615	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGAGCCGGGACTATTTGCA	0.617																																						uc003ljq.1		NaN																	0					0						c.(1843-1845)GGA>GAA		protocadherin gamma subfamily A, 4 isoform 1							39.0	47.0	45.0					5																	140736611		2197	4298	6495	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736611G>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1844G>A	5.37:g.140736611G>A	ENSP00000458570:p.Gly615Glu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.G615E	p.G615E	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1844	+			615			Extracellular (Potential).|Cadherin 6.		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.1844G>A	CCDS58979.1																																																																																				0.617	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1		NM_018917		14	68	0	0	0	0.00499	0	14	68		
PCDHGB3	56102	broad.mit.edu	37	5	140750571	140750571	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140750571G>A	ENST00000576222.1	+	1	741	c.610G>A	c.(610-612)Gag>Aag	p.E204K	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	204	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGGGAAGAGCAGCCACA	0.552																																						uc003ljw.1		NaN																	0					0						c.(610-612)GAG>AAG		protocadherin gamma subfamily B, 3 isoform 1							53.0	58.0	56.0					5																	140750571		2047	4216	6263	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140750571G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.610G>A	5.37:g.140750571G>A	ENSP00000461862:p.Glu204Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.E204K	p.E204K	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	610	+			204			Extracellular (Potential).|Cadherin 2.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.610G>A	CCDS58980.1																																																																																				0.552	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1		NM_018924		10	48	0	0	0	0.006214	0	10	48		
PCDHGA6	56109	broad.mit.edu	37	5	140753992	140753992	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140753992G>A	ENST00000517434.1	+	1	342	c.342G>A	c.(340-342)ctG>ctA	p.L114L	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	114	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATAAACTGAATCTTTATC	0.483																																						uc003ljy.1		NaN																	0				breast(1)	1						c.(340-342)CTG>CTA		protocadherin gamma subfamily A, 6 isoform 1							65.0	68.0	67.0					5																	140753992		2048	4240	6288	SO:0001819	synonymous_variant	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140753992G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.342G>A	5.37:g.140753992G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.L114L	p.L114L	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	342	+			114			Cadherin 1.|Extracellular (Potential).		A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.342G>A	CCDS54926.1																																																																																				0.483	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1		NM_018919		16	70	0	0	0	0.008871	0	16	70		
PCDHGB3	56102	broad.mit.edu	37	5	140779098	140779098	+	Intron	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140779098G>A	ENST00000576222.1	+	1	2546				PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCATCGCGCAAGTCTGCG	0.567																																						uc003lkf.1		NaN																	0					0						c.(1402-1404)GCG>GCA		protocadherin gamma subfamily B, 5 isoform 1							43.0	46.0	45.0					5																	140779098		1901	4118	6019	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140779098G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26722G>A	5.37:g.140779098G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.A468A	p.A468A	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1404	+			468			Extracellular (Potential).|Cadherin 5.		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1404G>A	CCDS58980.1																																																																																				0.567	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1		NM_018924		4	37	0	0	0	0.000602	0	4	37		
PCDH12	51294	broad.mit.edu	37	5	141325351	141325351	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:141325351C>T	ENST00000231484.3	-	4	4360	c.3150G>A	c.(3148-3150)ctG>ctA	p.L1050L		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1050					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGGCGCTCAGCCGGTCCA	0.677																																						uc003llx.2		NaN																	0				ovary(3)	3						c.(3148-3150)CTG>CTA		protocadherin 12 precursor							31.0	35.0	34.0					5																	141325351		2203	4296	6499	SO:0001819	synonymous_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141325351C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.3150G>A	5.37:g.141325351C>T							p.L1050L	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	4361	-		all_hematologic(541;0.0999)	1050			Cytoplasmic (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	c.3150G>A	CCDS4269.1																																																																																				0.677	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1		NM_016580		16	116	0	0	0	0.007413	0	16	116		
FGF1	2246	broad.mit.edu	37	5	141974881	141974881	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:141974881G>A	ENST00000359370.6	-	4	521	c.442C>T	c.(442-444)Ctc>Ttc	p.L148F	FGF1_ENST00000378046.1_Missense_Mutation_p.L148F|FGF1_ENST00000419524.2_Missense_Mutation_p.L148F|FGF1_ENST00000407758.1_3'UTR|FGF1_ENST00000494579.1_5'UTR|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000360966.5_3'UTR|FGF1_ENST00000337706.2_Missense_Mutation_p.L148F|AC005592.2_ENST00000414314.1_RNA	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	148					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|branch elongation involved in ureteric bud branching (GO:0060681)|cell differentiation (GO:0030154)|cellular response to heat (GO:0034605)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesonephric epithelium development (GO:0072163)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Amlexanox(DB01025)|Pazopanib(DB06589)|Pentosan Polysulfate(DB00686)	GGCAGGGGGAGAAACAAGATT	0.493																																						uc003lmm.2		NaN																	0					0						c.(442-444)CTC>TTC		fibroblast growth factor 1 (acidic) isoform 1	Pentosan Polysulfate(DB00686)						81.0	78.0	79.0					5																	141974881		2203	4300	6503	SO:0001583	missense	2246				angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding	g.chr5:141974881G>A	X59065	CCDS4275.1, CCDS4276.1	5q31.3-q33.2	2014-01-30			ENSG00000113578	ENSG00000113578		"""Endogenous ligands"""	3665	protein-coding gene	gene with protein product	"""heparin-binding growth factor 1"", ""endothelial cell growth factor, alpha"", ""endothelial cell growth factor, beta"""	131220		FGFA		1697263, 3523756	Standard	NM_033137		Approved	AFGF, ECGF, ECGFA, ECGFB, HBGF1, ECGF-beta, FGF-alpha, GLIO703	uc031slo.1	P05230	OTTHUMG00000059703	ENST00000359370.6:c.442C>T	5.37:g.141974881G>A	ENSP00000352329:p.Leu148Phe					FGF1_uc011dbi.1_3'UTR|FGF1_uc003lmn.3_Missense_Mutation_p.L148F|FGF1_uc003lmp.3_3'UTR|FGF1_uc003lmq.2_Missense_Mutation_p.L148F|FGF1_uc010jgj.2_Missense_Mutation_p.L147F|FGF1_uc003lmr.2_Missense_Mutation_p.L148F|FGF1_uc003lms.3_Missense_Mutation_p.L148F	p.L148F	NM_001144892	NP_001138364	P05230	FGF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	4	522	-		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	148					B2R5T0|D3DQF2|P07502|Q16588	Missense_Mutation	SNP	ENST00000359370.6	37	c.442C>T	CCDS4275.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.368954	0.82463	.	.	ENSG00000113578	ENST00000359370;ENST00000378046;ENST00000337706;ENST00000441680;ENST00000419524	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000003	D	0.96580	0.8884	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97070	0.9777	10	0.87932	D	0	.	20.2084	0.98285	0.0:0.0:1.0:0.0	.	147;148	A8K147;P05230	.;FGF1_HUMAN	F	148	ENSP00000352329:L148F;ENSP00000367285:L148F;ENSP00000338548:L148F;ENSP00000404742:L148F;ENSP00000396195:L148F	ENSP00000338548:L148F	L	-	1	0	FGF1	141955065	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	4.332000	0.59279	2.774000	0.95407	0.650000	0.86243	CTC		0.493	FGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132735.2		NM_000800		7	37	0	0	0	0.008291	0	7	37		
SH3TC2	79628	broad.mit.edu	37	5	148411215	148411215	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:148411215C>T	ENST00000515425.1	-	9	1138	c.1037G>A	c.(1036-1038)aGa>aAa	p.R346K	SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000394358.2_Missense_Mutation_p.R231K|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R339K	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	346					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGAGCATCTCTCCTCATC	0.522																																						uc003lpu.2		NaN																	0				ovary(2)	2						c.(1036-1038)AGA>AAA		SH3 domain and tetratricopeptide repeats 2							154.0	124.0	134.0					5																	148411215		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148411215C>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1037G>A	5.37:g.148411215C>T	ENSP00000423660:p.Arg346Lys					SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_5'UTR|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.R339K|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.R231K	p.R346K	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1189	-			346					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1037G>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	3.820	-0.037989	0.07497	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.75704	-0.96;-0.96;-0.59	5.53	1.58	0.23477	.	0.176040	0.48286	N	0.000182	T	0.53626	0.1808	L	0.38175	1.15	0.09310	N	0.999999	B;B;B	0.12630	0.006;0.005;0.005	B;B;B	0.09377	0.003;0.004;0.004	T	0.17837	-1.0356	10	0.13108	T	0.6	.	2.1789	0.03869	0.1251:0.4569:0.1218:0.2962	.	231;339;346	C9JLC3;Q14CC0;Q8TF17	.;.;S3TC2_HUMAN	K	346;339;231	ENSP00000423660:R346K;ENSP00000421860:R339K;ENSP00000377886:R231K	ENSP00000377886:R231K	R	-	2	0	SH3TC2	148391408	0.427000	0.25514	0.994000	0.49952	0.069000	0.16628	0.779000	0.26746	0.406000	0.25560	-0.251000	0.11542	AGA		0.522	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2		NM_024577		10	52	0	0	0	0.001368	0	10	52		
TCOF1	6949	broad.mit.edu	37	5	149754546	149754546	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:149754546C>T	ENST00000504761.2	+	10	1308	c.1308C>T	c.(1306-1308)gtC>gtT	p.V436V	TCOF1_ENST00000377797.3_Silent_p.V436V|TCOF1_ENST00000394269.3_Silent_p.V436V|TCOF1_ENST00000513346.1_Silent_p.V436V|TCOF1_ENST00000451292.1_Silent_p.V436V|TCOF1_ENST00000323668.7_Silent_p.V359V|TCOF1_ENST00000439160.2_Silent_p.V436V|TCOF1_ENST00000445265.2_Silent_p.V359V			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	436					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCCCAGGTCAGAGCCGCCT	0.662																																						uc003lry.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1306-1308)GTC>GTT		Treacher Collins-Franceschetti syndrome 1							23.0	29.0	27.0					5																	149754546		2201	4295	6496	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149754546C>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1308C>T	5.37:g.149754546C>T						TCOF1_uc003lrw.2_Silent_p.V436V|TCOF1_uc011dch.1_Silent_p.V436V|TCOF1_uc003lrz.2_Silent_p.V436V|TCOF1_uc003lrx.2_Silent_p.V359V|TCOF1_uc003lsa.2_Silent_p.V359V|TCOF1_uc011dci.1_5'Flank	p.V436V	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1416	+		all_hematologic(541;0.224)	436					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.1308C>T	CCDS54936.1																																																																																				0.662	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1		NM_001008656		5	31	0	0	0	0.001168	0	5	31		
DCTN4	51164	broad.mit.edu	37	5	150110697	150110697	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:150110697C>T	ENST00000447998.2	-	7	748	c.633G>A	c.(631-633)caG>caA	p.Q211Q	DCTN4_ENST00000446090.2_Silent_p.Q218Q|DCTN4_ENST00000424236.1_Silent_p.Q154Q|DCTN4_ENST00000521093.1_5'Flank	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	211					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTATCTCTTTCTGATCCTCTC	0.363																																						uc003lsv.2		NaN																	0				central_nervous_system(1)	1						c.(631-633)CAG>CAA		dynactin 4 (p62) isoform b							69.0	72.0	71.0					5																	150110697		2203	4300	6503	SO:0001819	synonymous_variant	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150110697C>T	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.633G>A	5.37:g.150110697C>T						DCTN4_uc003lsu.2_Silent_p.Q154Q|DCTN4_uc010jhi.2_Silent_p.Q218Q|DCTN4_uc010jhj.2_RNA	p.Q211Q	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	735	-		Medulloblastoma(196;0.167)	211					B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Silent	SNP	ENST00000447998.2	37	c.633G>A	CCDS4310.1																																																																																				0.363	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1				8	33	0	0	0	0.004482	0	8	33		
FAT2	2196	broad.mit.edu	37	5	150947809	150947809	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:150947809C>T	ENST00000261800.5	-	1	696	c.684G>A	c.(682-684)cgG>cgA	p.R228R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	228	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAGATTTTCCGCATGCGGT	0.597																																						uc003lue.3		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(682-684)CGG>CGA		FAT tumor suppressor 2 precursor							48.0	43.0	45.0					5																	150947809		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947809C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.684G>A	5.37:g.150947809C>T						GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.R228R	p.R228R	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	697	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	228			Cadherin 2.|Extracellular (Potential).		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.684G>A	CCDS4317.1																																																																																				0.597	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447		8	34	0	0	0	0.004482	0	8	34		
GEMIN5	25929	broad.mit.edu	37	5	154308188	154308188	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:154308188C>T	ENST00000285873.7	-	6	888	c.813G>A	c.(811-813)aaG>aaA	p.K271K		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	271					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCTCTTCTCTTCAGAAAGG	0.473																																						uc003lvx.3		NaN																	0				skin(2)|ovary(1)	3						c.(811-813)AAG>AAA		gemin 5							97.0	94.0	95.0					5																	154308188		2203	4300	6503	SO:0001819	synonymous_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154308188C>T	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.813G>A	5.37:g.154308188C>T						GEMIN5_uc011ddk.1_Silent_p.K270K	p.K271K	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		6	896	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	271					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	c.813G>A	CCDS4330.1																																																																																				0.473	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1				11	63	0	0	0	0.001855	0	11	63		
GABRP	2568	broad.mit.edu	37	5	170222427	170222427	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:170222427C>G	ENST00000518525.1	+	6	920	c.456C>G	c.(454-456)ctC>ctG	p.L152L	GABRP_ENST00000265294.4_Silent_p.L152L|GABRP_ENST00000519598.1_Silent_p.L152L|GABRP_ENST00000519385.1_Silent_p.L152L			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	152					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGTATGCCCTCAGGTACGCGG	0.532																																						uc003mau.2		NaN																	0				breast(1)	1						c.(454-456)CTC>CTG		gamma-aminobutyric acid (GABA) A receptor, pi							73.0	65.0	68.0					5																	170222427		2203	4300	6503	SO:0001819	synonymous_variant	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170222427C>G	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.456C>G	5.37:g.170222427C>G						GABRP_uc011dev.1_Silent_p.L152L	p.L152L	NM_014211	NP_055026	O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	654	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	152			Extracellular (Potential).		A8KA36|D3DQL2|Q32MJ1	Silent	SNP	ENST00000518525.1	37	c.456C>G	CCDS4375.1																																																																																				0.532	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3		NM_014211		9	79	0	0	0	0.004482	0	9	79		
BOD1	91272	broad.mit.edu	37	5	173040145	173040145	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:173040145C>T	ENST00000311086.4	-	2	574	c.351G>A	c.(349-351)caG>caA	p.Q117Q	BOD1_ENST00000285908.5_Silent_p.Q117Q|BOD1_ENST00000480951.1_Intron|BOD1_ENST00000471339.1_5'UTR	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	117					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776)				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GAACCACACTCTGCCTCAGAC	0.423																																						uc003mcq.2		NaN																	0				ovary(2)	2						c.(349-351)CAG>CAA		biorientation of chromosomes in cell division 1							244.0	229.0	234.0					5																	173040145		2203	4300	6503	SO:0001819	synonymous_variant	91272				cell division|mitosis	condensed chromosome kinetochore|microtubule organizing center		g.chr5:173040145C>T	AY303777	CCDS4389.1, CCDS54951.1	5q35.2	2013-10-11	2009-03-04	2009-03-04	ENSG00000145919	ENSG00000145919			25114	protein-coding gene	gene with protein product	"""biorientation defective 1"""		"""family with sequence similarity 44, member B"""	FAM44B		17938248	Standard	NM_138369		Approved		uc003mcq.2	Q96IK1	OTTHUMG00000130540	ENST00000311086.4:c.351G>A	5.37:g.173040145C>T						BOD1_uc003mcr.2_Silent_p.Q117Q	p.Q117Q	NM_138369	NP_612378	Q96IK1	BOD1_HUMAN			2	578	-			117					B4DXH8|Q9BTW1	Silent	SNP	ENST00000311086.4	37	c.351G>A	CCDS4389.1																																																																																				0.423	BOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252963.1		NM_138369		22	166	0	0	0	0.003954	0	22	166		
RAB24	53917	broad.mit.edu	37	5	176730193	176730193	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:176730193G>C	ENST00000303251.6	-	1	516	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	PRELID1_ENST00000503216.1_5'Flank|RAB24_ENST00000303270.6_5'UTR|PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000393611.2_Missense_Mutation_p.L33V	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	33					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCCCACCAGAAAGCGGTCG	0.647																																						uc003mfv.2		NaN																	0					0						c.(97-99)CTG>GTG		RAB24 gene product							91.0	83.0	86.0					5																	176730193		2203	4300	6503	SO:0001583	missense	53917				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding	g.chr5:176730193G>C	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.97C>G	5.37:g.176730193G>C	ENSP00000304376:p.Leu33Val					RAB24_uc003mfu.2_5'UTR|RAB24_uc003mfw.2_Missense_Mutation_p.L33V|PRELID1_uc003mfx.2_5'Flank|PRELID1_uc003mfy.2_5'Flank	p.L33V	NM_130781	NP_570137	Q969Q5	RAB24_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	466	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	33					Q7Z4Z7	Missense_Mutation	SNP	ENST00000303251.6	37	c.97C>G	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421355	0.42918	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000504395	T;T;T	0.69561	-0.41;-0.41;-0.41	4.75	-1.18	0.09617	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000020	T	0.38321	0.1036	N	0.10645	0.015	0.80722	D	1	P	0.36944	0.574	B	0.38616	0.277	T	0.05886	-1.0858	10	0.18710	T	0.47	-6.5446	6.4985	0.22155	0.3646:0.1292:0.5062:0.0	.	33	Q969Q5	RAB24_HUMAN	V	33	ENSP00000377235:L33V;ENSP00000304376:L33V;ENSP00000421442:L33V	ENSP00000304376:L33V	L	-	1	2	RAB24	176662799	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	1.299000	0.33424	0.065000	0.16485	-0.350000	0.07774	CTG		0.647	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1		NM_130781		25	156	0	0	0	0.009535	0	25	156		
FOXQ1	94234	broad.mit.edu	37	6	1313343	1313343	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:1313343C>T	ENST00000296839.2	+	1	669	c.404C>T	c.(403-405)tCg>tTg	p.S135L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S135L(1)		lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ATCCGCGACTCGGCGGGCGGG	0.687																																						uc003mtl.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(403-405)TCG>TTG		forkhead box Q1							26.0	29.0	28.0					6																	1313343		2157	4217	6374	SO:0001583	missense	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313343C>T	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.404C>T	6.37:g.1313343C>T	ENSP00000296839:p.Ser135Leu						p.S135L	NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	669	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	135			Fork-head.		Q9NS06	Missense_Mutation	SNP	ENST00000296839.2	37	c.404C>T	CCDS4471.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594792	0.86953	.	.	ENSG00000164379	ENST00000296839	D	0.96619	-4.07	3.35	3.35	0.38373	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	U	0.000003	D	0.97801	0.9278	M	0.86740	2.835	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.98512	1.0619	10	0.87932	D	0	.	13.4722	0.61287	0.0:1.0:0.0:0.0	.	135	Q9C009	FOXQ1_HUMAN	L	135	ENSP00000296839:S135L	ENSP00000296839:S135L	S	+	2	0	FOXQ1	1258343	0.998000	0.40836	0.696000	0.30242	0.775000	0.43874	5.373000	0.66162	1.737000	0.51674	0.184000	0.17185	TCG		0.687	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1		NM_033260		7	71	0	0	0	0.006214	0	7	71		
SLC22A23	63027	broad.mit.edu	37	6	3285315	3285315	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:3285315G>C	ENST00000406686.3	-	8	1576	c.1577C>G	c.(1576-1578)tCa>tGa	p.S526*	SLC22A23_ENST00000380302.4_Nonsense_Mutation_p.S245*|SLC22A23_ENST00000436008.2_Nonsense_Mutation_p.S526*|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000490273.1_Nonsense_Mutation_p.S245*	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	526					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GGACTCACCTGAGTCTGGGTG	0.527																																						uc003mvm.3		NaN																	0				ovary(1)	1						c.(1576-1578)TCA>TGA		solute carrier family 22, member 23 isoform a							68.0	52.0	58.0					6																	3285315		2203	4300	6503	SO:0001587	stop_gained	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3285315G>C	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1577C>G	6.37:g.3285315G>C	ENSP00000385028:p.Ser526*					uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Nonsense_Mutation_p.S245*|SLC22A23_uc003mvo.3_Nonsense_Mutation_p.S245*|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Nonsense_Mutation_p.S526*	p.S526*	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN			8	1577	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	526					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Nonsense_Mutation	SNP	ENST00000406686.3	37	c.1577C>G	CCDS47363.1	.	.	.	.	.	.	.	.	.	.	g	37	6.208861	0.97376	.	.	ENSG00000137266	ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177	.	.	.	5.04	5.04	0.67666	.	0.445916	0.22663	N	0.057165	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-6.0053	16.575	0.84634	0.0:0.0:1.0:0.0	.	.	.	.	X	526;526;245;245;354;352	.	ENSP00000369657:S245X	S	-	2	0	SLC22A23	3230314	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.293000	0.65680	2.352000	0.79861	0.651000	0.88453	TCA		0.527	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1		NM_021945		3	32	0	0	0	0.009096	0	3	32		
SYCP2L	221711	broad.mit.edu	37	6	10911094	10911094	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:10911094G>A	ENST00000283141.6	+	12	1206	c.910G>A	c.(910-912)Gag>Aag	p.E304K	SYCP2L_ENST00000543878.1_Missense_Mutation_p.E145K|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	304						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TTTTGCTGATGAGCATGAGGT	0.403																																						uc003mzo.2		NaN																	0				ovary(1)|skin(1)	2						c.(910-912)GAG>AAG		synaptonemal complex protein 2-like							271.0	248.0	256.0					6																	10911094		1934	4141	6075	SO:0001583	missense	221711					nucleus		g.chr6:10911094G>A	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.910G>A	6.37:g.10911094G>A	ENSP00000283141:p.Glu304Lys					SYCP2L_uc011din.1_Missense_Mutation_p.E145K|SYCP2L_uc010jow.2_Intron	p.E304K	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		12	1206	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	304					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.910G>A	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	4.169	0.029830	0.08101	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.41065	1.01;2.32	5.66	4.78	0.61160	.	1.219240	0.05627	N	0.581037	T	0.12305	0.0299	N	0.17800	0.525	0.80722	D	1	B;P	0.36249	0.435;0.545	B;B	0.32677	0.08;0.15	T	0.10800	-1.0614	10	0.11794	T	0.64	0.049	9.9641	0.41715	0.0721:0.0:0.7877:0.1401	.	145;304	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	K	145;304	ENSP00000440676:E145K;ENSP00000283141:E304K	ENSP00000283141:E304K	E	+	1	0	SYCP2L	11019080	0.243000	0.23878	0.688000	0.30117	0.545000	0.35147	0.517000	0.22832	1.363000	0.46019	0.591000	0.81541	GAG		0.403	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3		NM_194299		20	303	0	0	0	0.00632	0	20	303		
NEDD9	4739	broad.mit.edu	37	6	11190713	11190713	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:11190713G>C	ENST00000379446.5	-	5	1555	c.1389C>G	c.(1387-1389)ctC>ctG	p.L463L	NEDD9_ENST00000504387.1_Silent_p.L463L|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	463					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGACAAAGTGGAGGTACTCCT	0.522																																						uc003mzv.2		NaN																	0					0						c.(1387-1389)CTC>CTG		neural precursor cell expressed, developmentally							76.0	72.0	74.0					6																	11190713		2203	4300	6503	SO:0001819	synonymous_variant	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11190713G>C	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.1389C>G	6.37:g.11190713G>C						NEDD9_uc010joz.2_Silent_p.L463L|NEDD9_uc003mzw.3_Silent_p.L317L	p.L463L	NM_006403	NP_006394	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		5	1556	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	463					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	ENST00000379446.5	37	c.1389C>G	CCDS4520.1																																																																																				0.522	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2		NM_006403		5	67	0	0	0	0.001984	0	5	67		
JARID2	3720	broad.mit.edu	37	6	15512483	15512483	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:15512483G>C	ENST00000341776.2	+	14	3241	c.2997G>C	c.(2995-2997)agG>agC	p.R999S	JARID2_ENST00000397311.3_Missense_Mutation_p.R827S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	999	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGGTGCACAGGACCGTGCAGC	0.607																																						uc003nbj.2		NaN																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(2995-2997)AGG>AGC		jumonji, AT rich interactive domain 2 protein							170.0	128.0	143.0					6																	15512483		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15512483G>C	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2997G>C	6.37:g.15512483G>C	ENSP00000341280:p.Arg999Ser					JARID2_uc011div.1_Missense_Mutation_p.R827S	p.R999S	NM_004973	NP_004964	Q92833	JARD2_HUMAN			14	3241	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	999			JmjC.		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.2997G>C	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600005	0.66332	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	T;T	0.71817	-0.6;-0.6	4.88	3.86	0.44501	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.75042	0.3796	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75850	-0.3172	10	0.52906	T	0.07	-20.2597	10.4184	0.44335	0.0:0.0:0.5653:0.4347	.	999	Q92833	JARD2_HUMAN	S	999;827	ENSP00000341280:R999S;ENSP00000380478:R827S	ENSP00000341280:R999S	R	+	3	2	JARID2	15620462	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.379000	0.44318	2.403000	0.81681	0.505000	0.49811	AGG		0.607	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1		NM_004973		12	87	0	0	0	0.001368	0	12	87		
FAM8A1	51439	broad.mit.edu	37	6	17600696	17600696	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:17600696G>A	ENST00000259963.3	+	1	111	c.56G>A	c.(55-57)gGa>gAa	p.G19E		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	19						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GACGATGGCGGAGGGGACCAC	0.736																																						uc003ncc.2		NaN																	0					0						c.(55-57)GGA>GAA		family with sequence similarity 8, member A1							5.0	5.0	5.0					6																	17600696		2080	4138	6218	SO:0001583	missense	51439					integral to membrane		g.chr6:17600696G>A	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.56G>A	6.37:g.17600696G>A	ENSP00000259963:p.Gly19Glu						p.G19E	NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		1	179	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	19					B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.56G>A	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771964	0.69992	.	.	ENSG00000137414	ENST00000259963	.	.	.	3.84	3.84	0.44239	.	0.217536	0.28688	N	0.014464	T	0.10465	0.0256	L	0.27053	0.805	0.29587	N	0.8487	P	0.44627	0.839	B	0.35413	0.202	T	0.06516	-1.0822	9	0.35671	T	0.21	-1.781	11.431	0.50041	0.0:0.0:1.0:0.0	.	19	Q9UBU6	FA8A1_HUMAN	E	19	.	ENSP00000259963:G19E	G	+	2	0	FAM8A1	17708675	0.000000	0.05858	0.889000	0.34880	0.622000	0.37654	-0.014000	0.12656	2.130000	0.65690	0.484000	0.47621	GGA		0.736	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1				10	14	0	0	0	0.008291	0	10	14		
NUP153	9972	broad.mit.edu	37	6	17675981	17675981	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:17675981C>T	ENST00000262077.2	-	3	354	c.355G>A	c.(355-357)Gct>Act	p.A119T	NUP153_ENST00000537253.1_Missense_Mutation_p.A119T	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	119					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TAATTTGAAGCAGTACTAGTT	0.358																																						uc003ncd.1		NaN																	0				lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(355-357)GCT>ACT		nucleoporin 153kDa							79.0	83.0	82.0					6																	17675981		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17675981C>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.355G>A	6.37:g.17675981C>T	ENSP00000262077:p.Ala119Thr					NUP153_uc011dje.1_Missense_Mutation_p.A119T|NUP153_uc010jpl.1_Missense_Mutation_p.A119T	p.A119T	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		3	555	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	119					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.355G>A	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620561	0.46736	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.33654	1.4;1.4	5.26	3.45	0.39498	Nucleoporin, Nup153-like (1);	0.120895	0.37095	N	0.002241	T	0.20129	0.0484	M	0.68317	2.08	0.41790	D	0.989864	B;B;B	0.15930	0.015;0.01;0.005	B;B;B	0.25759	0.063;0.026;0.01	T	0.07424	-1.0773	10	0.66056	D	0.02	-8.3691	7.0323	0.24975	0.1483:0.7041:0.0:0.1476	.	119;141;119	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	T	119;141;119	ENSP00000262077:A119T;ENSP00000444029:A119T	ENSP00000262077:A119T	A	-	1	0	NUP153	17783960	0.940000	0.31905	1.000000	0.80357	0.999000	0.98932	1.888000	0.39708	0.578000	0.29487	0.650000	0.86243	GCT		0.358	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1				5	69	0	0	0	0.000602	0	5	69		
FAM65B	9750	broad.mit.edu	37	6	24865637	24865637	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:24865637G>C	ENST00000259698.4	-	7	631	c.456C>G	c.(454-456)ctC>ctG	p.L152L	FAM65B_ENST00000378023.4_Silent_p.L152L|FAM65B_ENST00000540914.1_Silent_p.L152L|FAM65B_ENST00000510784.2_Silent_p.L186L|FAM65B_ENST00000538035.1_Silent_p.L181L	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	152					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CACCATCCTGGAGGCGTCGCT	0.468																																						uc003neo.1		NaN																	0				ovary(1)	1						c.(454-456)CTC>CTG		hypothetical protein LOC9750 isoform 1							74.0	69.0	71.0					6																	24865637		1909	4126	6035	SO:0001819	synonymous_variant	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24865637G>C	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.456C>G	6.37:g.24865637G>C						FAM65B_uc011djs.1_Silent_p.L181L|FAM65B_uc011dju.1_Silent_p.L186L|FAM65B_uc003nep.2_Silent_p.L152L|FAM65B_uc011djt.1_Silent_p.L152L	p.L152L	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN			7	632	-			152					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Silent	SNP	ENST00000259698.4	37	c.456C>G	CCDS47383.1																																																																																				0.468	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2				5	55	0	0	0	0.000602	0	5	55		
FAM65B	9750	broad.mit.edu	37	6	24873898	24873898	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:24873898G>C	ENST00000259698.4	-	3	406	c.231C>G	c.(229-231)gtC>gtG	p.V77V	FAM65B_ENST00000378023.4_Silent_p.V77V|FAM65B_ENST00000540914.1_Silent_p.V77V|FAM65B_ENST00000510784.2_Silent_p.V111V|FAM65B_ENST00000538035.1_Silent_p.V106V	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	77	Involved in cell filopodia formation.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AGGCCCTGTAGACTTCTTCCA	0.438																																						uc003neo.1		NaN																	0				ovary(1)	1						c.(229-231)GTC>GTG		hypothetical protein LOC9750 isoform 1							144.0	132.0	136.0					6																	24873898		1827	4081	5908	SO:0001819	synonymous_variant	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24873898G>C	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.231C>G	6.37:g.24873898G>C						FAM65B_uc011djs.1_Silent_p.V106V|FAM65B_uc011dju.1_Silent_p.V111V|FAM65B_uc003nep.2_Silent_p.V77V|FAM65B_uc011djt.1_Silent_p.V77V	p.V77V	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN			3	407	-			77			Involved in cell filopodia formation.		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Silent	SNP	ENST00000259698.4	37	c.231C>G	CCDS47383.1																																																																																				0.438	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2				9	68	0	0	0	0.001368	0	9	68		
LRRC16A	55604	broad.mit.edu	37	6	25466165	25466165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:25466165G>A	ENST00000329474.6	+	9	1047	c.679G>A	c.(679-681)Gat>Aat	p.D227N	LRRC16A_ENST00000377969.3_Missense_Mutation_p.D66N	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	227					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTCCTCTAAGGATCTAAAACT	0.363																																						uc011djw.1		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(679-681)GAT>AAT		leucine rich repeat containing 16A							159.0	150.0	153.0					6																	25466165		1854	4091	5945	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25466165G>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.679G>A	6.37:g.25466165G>A	ENSP00000331983:p.Asp227Asn					LRRC16A_uc010jpx.2_Missense_Mutation_p.D227N|LRRC16A_uc010jpy.2_Missense_Mutation_p.D227N|LRRC16A_uc003nez.1_Missense_Mutation_p.D66N	p.D227N	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			9	1055	+			227					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.679G>A	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450763	0.63290	.	.	ENSG00000079691	ENST00000329474;ENST00000399313;ENST00000377969	T;T	0.51325	0.71;0.71	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	L	0.38649	1.16	0.54753	D	0.999988	D;D;D;B	0.67145	0.987;0.995;0.996;0.131	P;P;D;B	0.63703	0.827;0.886;0.917;0.033	T	0.17561	-1.0365	10	0.23891	T	0.37	.	18.4922	0.90852	0.0:0.0:1.0:0.0	.	227;227;227;66	Q5VZK9;B2RTQ5;Q5VZK9-2;Q5VZK9-4	LR16A_HUMAN;.;.;.	N	227;227;66	ENSP00000331983:D227N;ENSP00000367206:D66N	ENSP00000331983:D227N	D	+	1	0	LRRC16A	25574144	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	8.757000	0.91657	2.793000	0.96121	0.650000	0.86243	GAT		0.363	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2		NM_017640		19	171	0	0	0	0.008871	0	19	171		
TRIM38	10475	broad.mit.edu	37	6	25967132	25967132	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:25967132C>T	ENST00000357085.3	+	3	858	c.382C>T	c.(382-384)Ctt>Ttt	p.L128F	TRIM38_ENST00000349458.3_Missense_Mutation_p.L128F	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	128					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CACCACAGCTCTTGTTGAAGA	0.572																																						uc003nfm.2		NaN																	0					0						c.(382-384)CTT>TTT		tripartite motif-containing 38							59.0	60.0	60.0					6																	25967132		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25967132C>T	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.382C>T	6.37:g.25967132C>T	ENSP00000349596:p.Leu128Phe					TRIM38_uc003nfn.2_Missense_Mutation_p.L128F	p.L128F	NM_006355	NP_006346	O00635	TRI38_HUMAN			3	817	+			128			B box-type.		B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.382C>T	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	c	15.01	2.706716	0.48412	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.58210	0.35;0.35;0.35	4.37	2.47	0.30058	Zinc finger, B-box (2);	0.235594	0.20101	N	0.099225	T	0.46795	0.1411	L	0.54965	1.715	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.24905	-1.0147	10	0.48119	T	0.1	.	5.244	0.15487	0.0:0.6726:0.2056:0.1218	.	128;128	B2R862;O00635	.;TRI38_HUMAN	F	128	ENSP00000443976:L128F;ENSP00000230099:L128F;ENSP00000349596:L128F	ENSP00000230099:L128F	L	+	1	0	TRIM38	26075111	0.000000	0.05858	0.001000	0.08648	0.239000	0.25481	0.328000	0.19681	0.695000	0.31675	0.585000	0.79938	CTT		0.572	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2				17	132	0	0	0	0.010504	0	17	132		
HIST1H1C	3006	broad.mit.edu	37	6	26056380	26056380	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:26056380G>A	ENST00000343677.2	-	1	319	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	93	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GTTTGCACCAGAGTGCCCTTG	0.547																																						uc003nfw.2		NaN																	0				ovary(3)|skin(2)	5						c.(277-279)CTG>TTG		histone cluster 1, H1c							110.0	114.0	113.0					6																	26056380		2203	4300	6503	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056380G>A	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.277C>T	6.37:g.26056380G>A							p.L93L	NM_005319	NP_005310	P16403	H12_HUMAN			1	320	-			93			H15.		A8K4I2	Silent	SNP	ENST00000343677.2	37	c.277C>T	CCDS4577.1																																																																																				0.547	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1		NM_005319		11	105	0	0	0	0.010729	0	11	105		
HIST1H2AD	3013	broad.mit.edu	37	6	26199108	26199108	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:26199108C>T	ENST00000341023.1	-	1	363	c.364G>A	c.(364-366)Gag>Aag	p.E122K	HIST1H3D_ENST00000377831.5_5'UTR|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2BF_ENST00000359985.1_5'Flank	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				TGGTGACTCTCAGTCTTCTTG	0.488																																						uc003ngw.2		NaN																	0					0						c.(364-366)GAG>AAG		histone cluster 1, H2ad							120.0	105.0	110.0					6																	26199108		2203	4300	6503	SO:0001583	missense	3013				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26199108C>T	Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"""Histones / Replication-dependent"""	4729	protein-coding gene	gene with protein product		602792	"""H2A histone family, member G"", ""histone 1, H2ad"""	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.364G>A	6.37:g.26199108C>T	ENSP00000341094:p.Glu122Lys					HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	p.E122K	NM_021065	NP_066409	P20671	H2A1D_HUMAN			1	364	-		all_hematologic(11;0.196)	122					A0PK91|P57754|Q6FGY6	Missense_Mutation	SNP	ENST00000341023.1	37	c.364G>A	CCDS4591.1	.	.	.	.	.	.	.	.	.	.	.	12.12	1.842715	0.32606	.	.	ENSG00000196866	ENST00000341023	T	0.40225	1.04	4.82	4.82	0.62117	Histone-fold (2);Histone H2A (1);	0.000000	0.43416	U	0.000575	T	0.09642	0.0237	N	0.01267	-0.92	0.39746	D	0.971829	B	0.02656	0.0	B	0.04013	0.001	T	0.06023	-1.0850	10	0.39692	T	0.17	.	17.2301	0.86982	0.0:1.0:0.0:0.0	.	122	P20671	H2A1D_HUMAN	K	122	ENSP00000341094:E122K	ENSP00000341094:E122K	E	-	1	0	HIST1H2AD	26307087	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	7.295000	0.78780	2.373000	0.80994	0.655000	0.94253	GAG		0.488	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040100.1		NM_021065		11	100	0	0	0	0.00245	0	11	100		
HIST1H2AD	3013	broad.mit.edu	37	6	26199439	26199439	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:26199439G>A	ENST00000341023.1	-	1	32	c.33C>T	c.(31-33)gcC>gcT	p.A11A	HIST1H3D_ENST00000377831.5_5'UTR|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2BF_ENST00000359985.1_5'Flank	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	11						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				CCTTAGCTCGGGCCTTTCCGC	0.527																																						uc003ngw.2		NaN																	0					0						c.(31-33)GCC>GCT		histone cluster 1, H2ad							22.0	25.0	24.0					6																	26199439		2203	4300	6503	SO:0001819	synonymous_variant	3013				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26199439G>A	Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"""Histones / Replication-dependent"""	4729	protein-coding gene	gene with protein product		602792	"""H2A histone family, member G"", ""histone 1, H2ad"""	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.33C>T	6.37:g.26199439G>A						HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	p.A11A	NM_021065	NP_066409	P20671	H2A1D_HUMAN			1	33	-		all_hematologic(11;0.196)	11					A0PK91|P57754|Q6FGY6	Silent	SNP	ENST00000341023.1	37	c.33C>T	CCDS4591.1																																																																																				0.527	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040100.1		NM_021065		4	38	0	0	0	0.009096	0	4	38		
BTN3A1	11119	broad.mit.edu	37	6	26407997	26407997	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:26407997C>A	ENST00000289361.6	+	4	900	c.532C>A	c.(532-534)Cag>Aag	p.Q178K	BTN3A1_ENST00000425234.2_Missense_Mutation_p.Q178K|BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000476549.2_Missense_Mutation_p.Q178K	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	178	Ig-like V-type 2.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACCCCAAATACAGTGGAGCAA	0.537																																						uc003nhv.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(532-534)CAG>AAG		butyrophilin, subfamily 3, member A1 isoform a							142.0	122.0	129.0					6																	26407997		2203	4300	6503	SO:0001583	missense	11119				lipid metabolic process	integral to membrane		g.chr6:26407997C>A	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.532C>A	6.37:g.26407997C>A	ENSP00000289361:p.Gln178Lys					BTN3A1_uc011dkj.1_Missense_Mutation_p.Q178K|BTN3A1_uc011dkk.1_Intron|BTN3A1_uc010jqj.2_Missense_Mutation_p.Q178K	p.Q178K	NM_007048	NP_008979	O00481	BT3A1_HUMAN			4	900	+			178			Ig-like V-type 2.|Extracellular (Potential).		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.532C>A	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.387683	0.01194	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234	T;T;T	0.76709	-1.04;-1.04;-1.04	2.0	1.06	0.20224	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42154	0.1190	L	0.49640	1.575	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.30707	-0.9969	9	0.07482	T	0.82	.	5.5084	0.16866	0.3286:0.6714:0.0:0.0	.	178;178;178	O00481-3;O00481-2;O00481	.;.;BT3A1_HUMAN	K	178	ENSP00000420010:Q178K;ENSP00000289361:Q178K;ENSP00000396684:Q178K	ENSP00000289361:Q178K	Q	+	1	0	BTN3A1	26515976	0.000000	0.05858	0.006000	0.13384	0.045000	0.14185	-0.248000	0.08854	0.358000	0.24211	0.511000	0.50034	CAG		0.537	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3				25	119	1	0	8.58068e-18	0.007291	9.24403e-18	25	119		
BTN3A1	11119	broad.mit.edu	37	6	26411782	26411782	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:26411782G>A	ENST00000289361.6	+	9	1359		c.e9-1		BTN3A1_ENST00000425234.2_Splice_Site|BTN3A1_ENST00000414912.2_Splice_Site|BTN3A1_ENST00000476549.2_Splice_Site	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1						activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTTCCTTTCAGAATGGAAAAA	0.438																																						uc003nhv.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.e9-1		butyrophilin, subfamily 3, member A1 isoform a							187.0	156.0	167.0					6																	26411782		2203	4300	6503	SO:0001630	splice_region_variant	11119				lipid metabolic process	integral to membrane		g.chr6:26411782G>A	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.992-1G>A	6.37:g.26411782G>A						BTN3A1_uc011dkj.1_Splice_Site_p.E331_splice|BTN3A1_uc011dkk.1_Splice_Site_p.E279_splice|BTN3A1_uc010jqj.2_Splice_Site_p.E331_splice	p.E331_splice	NM_007048	NP_008979	O00481	BT3A1_HUMAN			9	1360	+								A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Splice_Site	SNP	ENST00000289361.6	37	c.992_splice	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104848	0.37145	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	.	.	.	1.33	1.33	0.21861	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.046	0.19760	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTN3A1	26519761	0.993000	0.37304	0.676000	0.29932	0.494000	0.33585	1.220000	0.32491	1.010000	0.39314	0.609000	0.83330	.		0.438	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			Intron	13	61	0	0	0	0.004007	0	13	61		
HIST1H2AM	8336	broad.mit.edu	37	6	27860615	27860615	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:27860615G>A	ENST00000359611.2	-	1	348	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	105						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						ACACCGCCCTGAGCGATGGTA	0.542																																						uc003nkb.1		NaN																	0				ovary(2)	2						c.(313-315)CAG>TAG		histone cluster 1, H2am							143.0	136.0	139.0					6																	27860615		2203	4300	6503	SO:0001587	stop_gained	8336				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27860615G>A	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"""Histones / Replication-dependent"""	4735	protein-coding gene	gene with protein product		602796	"""H2A histone family, member N"", ""histone 1, H2am"""	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.313C>T	6.37:g.27860615G>A	ENSP00000352627:p.Gln105*					HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	p.Q105*	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN			1	349	-			105					P02261|Q2M1R2|Q76PA6	Nonsense_Mutation	SNP	ENST00000359611.2	37	c.313C>T	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698611	0.88830	.	.	ENSG00000233224	ENST00000359611	.	.	.	4.06	4.06	0.47325	.	0.000000	0.29328	U	0.012474	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.02	0.80473	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000352627:Q105X	Q	-	1	0	HIST1H2AM	27968594	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	8.860000	0.92272	2.545000	0.85829	0.655000	0.94253	CAG		0.542	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1		NM_003514		35	209	0	0	0	0.004878	0	35	209		
ZNF165	7718	broad.mit.edu	37	6	28056346	28056346	+	Missense_Mutation	SNP	G	G	C	rs535408871		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:28056346G>C	ENST00000377325.1	+	4	1112	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	186					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)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTAGATAATGAGAGTGAAAA	0.318																																						uc003nkg.2		NaN																	0					0						c.(556-558)GAG>CAG		zinc finger protein 165							40.0	46.0	44.0					6																	28056346		2182	4281	6463	SO:0001583	missense	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056346G>C	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.556G>C	6.37:g.28056346G>C	ENSP00000366542:p.Glu186Gln					ZNF165_uc003nkh.2_Missense_Mutation_p.E186Q|ZNF165_uc003nki.3_Missense_Mutation_p.E186Q|ZSCAN12P1_uc003nkj.3_5'Flank	p.E186Q	NM_003447	NP_003438	P49910	ZN165_HUMAN			5	1640	+			186						Missense_Mutation	SNP	ENST00000377325.1	37	c.556G>C	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	G	6.455	0.452012	0.12283	.	.	ENSG00000197279	ENST00000377325	T	0.06142	3.34	2.86	-0.0717	0.13742	.	.	.	.	.	T	0.01353	0.0044	L	0.38175	1.15	0.09310	N	1	B	0.26400	0.148	B	0.17433	0.018	T	0.47058	-0.9146	9	0.27082	T	0.32	.	5.4667	0.16648	0.4187:0.0:0.5813:0.0	.	186	P49910	ZN165_HUMAN	Q	186	ENSP00000366542:E186Q	ENSP00000366542:E186Q	E	+	1	0	ZNF165	28164325	.	.	0.006000	0.13384	0.159000	0.22180	.	.	-0.152000	0.11156	0.655000	0.94253	GAG		0.318	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1		NM_003447		3	30	0	0	0	0.009096	0	3	30		
ZNF165	7718	broad.mit.edu	37	6	28056916	28056916	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:28056916G>A	ENST00000377325.1	+	4	1682	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	376					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)	p.E376K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGAATGTAATGAATGTGGGAA	0.443																																						uc003nkg.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(1126-1128)GAA>AAA		zinc finger protein 165							61.0	65.0	64.0					6																	28056916		2203	4300	6503	SO:0001583	missense	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056916G>A	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1126G>A	6.37:g.28056916G>A	ENSP00000366542:p.Glu376Lys					ZNF165_uc003nkh.2_Missense_Mutation_p.E376K|ZNF165_uc003nki.3_Missense_Mutation_p.E376K|ZSCAN12P1_uc003nkj.3_5'Flank	p.E376K	NM_003447	NP_003438	P49910	ZN165_HUMAN			5	2210	+			376			C2H2-type 3.			Missense_Mutation	SNP	ENST00000377325.1	37	c.1126G>A	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321513	0.81580	.	.	ENSG00000197279	ENST00000377325	T	0.16597	2.33	3.04	3.04	0.35103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14787	0.0357	N	0.25380	0.74	0.30756	N	0.744655	D	0.57571	0.98	P	0.61477	0.889	T	0.02991	-1.1085	9	0.72032	D	0.01	.	13.2682	0.60146	0.0:0.0:1.0:0.0	.	376	P49910	ZN165_HUMAN	K	376	ENSP00000366542:E376K	ENSP00000366542:E376K	E	+	1	0	ZNF165	28164895	0.000000	0.05858	0.995000	0.50966	0.986000	0.74619	0.022000	0.13511	1.728000	0.51552	0.585000	0.79938	GAA		0.443	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1		NM_003447		6	70	0	0	0	0.006214	0	6	70		
MAS1L	116511	broad.mit.edu	37	6	29454596	29454596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:29454596G>A	ENST00000377127.3	-	1	1142	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	362					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCACATGCTGAGTAGAGTGT	0.517																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.1		NaN																	0				ovary(7)|lung(2)	9						c.(1084-1086)CAG>TAG		MAS1 oncogene-like							168.0	162.0	164.0					6																	29454596		2203	4300	6503	SO:0001587	stop_gained	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454596G>A	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.1084C>T	6.37:g.29454596G>A	ENSP00000366331:p.Gln362*						p.Q362*	NM_052967	NP_443199	P35410	MAS1L_HUMAN			1	1084	-			362			Cytoplasmic (Potential).		Q5SUN5	Nonsense_Mutation	SNP	ENST00000377127.3	37	c.1084C>T	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252331	0.22880	.	.	ENSG00000204687	ENST00000377127	.	.	.	0.703	-0.453	0.12201	.	.	.	.	.	.	.	.	.	.	.	0.22034	N	0.999408	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	4.4709	0.11712	0.0:0.4199:0.5801:0.0	.	.	.	.	X	362	.	ENSP00000366331:Q362X	Q	-	1	0	MAS1L	29562575	0.016000	0.18221	0.001000	0.08648	0.008000	0.06430	0.308000	0.19314	-0.153000	0.11137	-0.843000	0.03049	CAG		0.517	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2		NM_052967		16	100	0	0	0	0.012319	0	16	100		
OR2H2	7932	broad.mit.edu	37	6	29556417	29556417	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:29556417G>A	ENST00000383640.2	+	1	735	c.696G>A	c.(694-696)cgG>cgA	p.R232R	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	232				KGR -> TAW (in Ref. 1; AAB36567). {ECO:0000305}.	defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CAAAAGGGCGGAGGAAAGCTT	0.527																																						uc003nmr.1		NaN																	0					0						c.(694-696)CGG>CGA		olfactory receptor, family 2, subfamily H,							129.0	122.0	125.0					6																	29556417		1511	2709	4220	SO:0001819	synonymous_variant	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556417G>A		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.696G>A	6.37:g.29556417G>A						GABBR1_uc003nmp.3_Intron	p.R232R	NM_007160	NP_009091	O95918	OR2H2_HUMAN			1	735	+			232	KGR -> TAW (in Ref. 1; AAB36567).		Cytoplasmic (Potential).		Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Silent	SNP	ENST00000383640.2	37	c.696G>A	CCDS34365.1																																																																																				0.527	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2				12	98	0	0	0	0.001368	0	12	98		
RNF39	80352	broad.mit.edu	37	6	30043525	30043525	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:30043525C>G	ENST00000244360.6	-	1	139	c.42G>C	c.(40-42)aaG>aaC	p.K14N	RNF39_ENST00000376751.3_Missense_Mutation_p.K14N	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	14						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										TTGCCTCTCTCTTCAACCAGA	0.577																																					NSCLC(8;188 360 1520 20207 31481)	uc003npe.2		NaN																	0					0						c.(40-42)AAG>AAC		ring finger protein 39 isoform 1							53.0	55.0	54.0					6																	30043525		2203	4300	6503	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30043525C>G	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.42G>C	6.37:g.30043525C>G	ENSP00000244360:p.Lys14Asn					RNF39_uc003npd.2_Missense_Mutation_p.K14N	p.K14N	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN			1	104	-			14					A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.42G>C	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	11.74	1.727891	0.30593	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.73047	-0.26;-0.71	2.84	0.81	0.18732	.	.	.	.	.	T	0.25419	0.0618	N	0.08118	0	0.09310	N	1	B;B	0.15141	0.007;0.012	B;B	0.09377	0.002;0.004	T	0.21280	-1.0250	9	0.52906	T	0.07	.	5.4833	0.16735	0.0:0.667:0.204:0.129	.	14;14	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	N	14	ENSP00000365942:K14N;ENSP00000244360:K14N	ENSP00000244360:K14N	K	-	3	2	RNF39	30151504	0.000000	0.05858	0.004000	0.12327	0.146000	0.21551	0.268000	0.18571	0.413000	0.25759	0.436000	0.28706	AAG		0.577	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3		NM_170769		11	117	0	0	0	0.001368	0	11	117		
TRIM15	89870	broad.mit.edu	37	6	30131831	30131831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:30131831C>T	ENST00000376694.4	+	1	839	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	124					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGAGGCCATTCAGCCCTACCG	0.577																																						uc010jrx.2		NaN																	0					0						c.(370-372)CAG>TAG		tripartite motif protein 15							60.0	52.0	55.0					6																	30131831		1510	2709	4219	SO:0001587	stop_gained	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30131831C>T	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.370C>T	6.37:g.30131831C>T	ENSP00000365884:p.Gln124*						p.Q124*	NM_033229	NP_150232	Q9C019	TRI15_HUMAN			1	849	+			124					A2BEC9|O95604|Q8IUX9|Q9C018	Nonsense_Mutation	SNP	ENST00000376694.4	37	c.370C>T	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	C	39	7.508805	0.98329	.	.	ENSG00000204610	ENST00000376695;ENST00000376694	.	.	.	5.54	3.71	0.42584	.	0.435132	0.19499	N	0.112787	.	.	.	.	.	.	0.20703	N	0.999866	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	4.309	0.10962	0.1618:0.5967:0.1566:0.0849	.	.	.	.	X	55;124	.	ENSP00000365884:Q124X	Q	+	1	0	TRIM15	30239810	0.000000	0.05858	0.697000	0.30258	0.458000	0.32498	-0.069000	0.11542	0.648000	0.30732	0.551000	0.68910	CAG		0.577	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2		NM_033229		14	96	0	0	0	0.010504	0	14	96		
GTF2H4	2968	broad.mit.edu	37	6	30881724	30881724	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:30881724C>T	ENST00000259895.4	+	14	1576	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	VARS2_ENST00000416670.2_5'Flank|VARS2_ENST00000541562.1_5'Flank|VARS2_ENST00000321897.5_5'Flank|GTF2H4_ENST00000376316.2_Silent_p.V451V|VARS2_ENST00000542001.1_5'Flank	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	451					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACAGCGACGTCAAGCGCTTTT	0.677								Nucleotide excision repair (NER)																														uc003nsa.1		NaN																	0				ovary(2)|breast(1)	3						c.(1351-1353)GTC>GTT	NER	general transcription factor IIH, polypeptide 4,							19.0	20.0	20.0					6																	30881724		1509	2707	4216	SO:0001819	synonymous_variant	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30881724C>T	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.1353C>T	6.37:g.30881724C>T						GTF2H4_uc003nsb.1_Silent_p.V289V|VARS2_uc003nsc.1_5'Flank|VARS2_uc003nsd.2_5'Flank|VARS2_uc011dmx.1_5'Flank|VARS2_uc011dmy.1_5'Flank|VARS2_uc011dmz.1_5'Flank|VARS2_uc011dna.1_5'Flank|VARS2_uc011dnb.1_5'Flank|VARS2_uc011dnc.1_5'Flank	p.V451V	NM_001517	NP_001508	Q92759	TF2H4_HUMAN			14	1560	+			451					B4DTJ5|Q76KU4	Silent	SNP	ENST00000259895.4	37	c.1353C>T	CCDS34386.1																																																																																				0.677	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3		NM_001517		7	44	0	0	0	0.004482	0	7	44		
CCHCR1	54535	broad.mit.edu	37	6	31110790	31110790	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:31110790G>A	ENST00000376266.5	-	17	2296	c.2174C>T	c.(2173-2175)tCa>tTa	p.S725L	CCHCR1_ENST00000451521.2_Missense_Mutation_p.S778L|CCHCR1_ENST00000396268.3_Missense_Mutation_p.S814L|CCHCR1_ENST00000396263.2_Missense_Mutation_p.S672L	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	725					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TGCAGATGCTGAACACTCTGG	0.547																																						uc003nsr.3		NaN																	0				skin(1)	1						c.(2173-2175)TCA>TTA		coiled-coil alpha-helical rod protein 1 isoform							287.0	334.0	317.0					6																	31110790		1509	2709	4218	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31110790G>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.2174C>T	6.37:g.31110790G>A	ENSP00000365442:p.Ser725Leu					CCHCR1_uc011dne.1_Missense_Mutation_p.S711L|CCHCR1_uc003nsq.3_Missense_Mutation_p.S778L|CCHCR1_uc003nsp.3_Missense_Mutation_p.S814L	p.S725L	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			17	2297	-			725					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.2174C>T	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.017075	0.54576	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04809	3.55;3.55;3.55;3.55	4.73	0.687	0.18020	.	0.385035	0.19136	N	0.121820	T	0.03178	0.0093	M	0.63428	1.95	0.09310	N	1	B;P;P;P	0.51537	0.014;0.77;0.946;0.844	B;P;P;P	0.51550	0.017;0.583;0.673;0.447	T	0.34304	-0.9834	10	0.51188	T	0.08	-0.0823	3.238	0.06771	0.3017:0.0:0.5136:0.1847	.	711;725;778;814	B4DIA2;Q8TD31;E9PE84;Q8TD31-2	.;CCHCR_HUMAN;.;.	L	814;725;672;711;778	ENSP00000379566:S814L;ENSP00000365442:S725L;ENSP00000379561:S672L;ENSP00000401039:S778L	ENSP00000365442:S725L	S	-	2	0	CCHCR1	31218769	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.697000	0.25556	0.316000	0.23135	0.448000	0.29417	TCA		0.547	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5		NM_019052		32	353	0	0	0	0.00623	0	32	353		
SAPCD1	401251	broad.mit.edu	37	6	31731217	31731217	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:31731217G>A	ENST00000425424.1	+	2	199	c.140G>A	c.(139-141)aGa>aAa	p.R47K	MSH5_ENST00000534153.4_3'UTR|VWA7_ENST00000467576.1_5'Flank|SAPCD1_ENST00000415669.2_Missense_Mutation_p.R47K|SAPCD1-AS1_ENST00000419679.1_RNA|MSH5-SAPCD1_ENST00000493662.2_3'UTR			Q5SSQ6	SAPC1_HUMAN	suppressor APC domain containing 1	47																	GCTCTGGAGAGAGAACAGGAT	0.592																																						uc003nxa.3		NaN																	0					0						c.(139-141)AGA>AAA		hypothetical protein LOC401251							78.0	78.0	78.0					6																	31731217		1511	2708	4219	SO:0001583	missense	401251							g.chr6:31731217G>A		CCDS34411.1	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000228727	ENSG00000228727			13938	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 26"""	C6orf26			Standard	NM_001039651		Approved	NG23		Q5SSQ6	OTTHUMG00000031131	ENST00000425424.1:c.140G>A	6.37:g.31731217G>A	ENSP00000413372:p.Arg47Lys					MSH5_uc003nwz.3_RNA	p.R47K	NM_001039651	NP_001034740	Q5SSQ6	G7D_HUMAN			2	199	+			47					A2ABF2|A2ABS9|Q9Y335	Missense_Mutation	SNP	ENST00000425424.1	37	c.140G>A		.	.	.	.	.	.	.	.	.	.	G	18.75	3.689695	0.68271	.	.	ENSG00000228727	ENST00000433778;ENST00000415669;ENST00000425424	T;T	0.80480	-1.38;-1.38	4.56	3.69	0.42338	.	.	.	.	.	T	0.65964	0.2742	.	.	.	0.09310	N	0.999997	D	0.56035	0.974	P	0.47981	0.563	T	0.56111	-0.8033	8	0.40728	T	0.16	-7.5691	8.684	0.34225	0.1044:0.0:0.8956:0.0	.	47	Q5SSQ6-2	.	K	47	ENSP00000411948:R47K;ENSP00000413372:R47K	ENSP00000411948:R47K	R	+	2	0	C6orf26	31839196	0.998000	0.40836	0.186000	0.23195	0.996000	0.88848	1.561000	0.36342	1.263000	0.44181	0.655000	0.94253	AGA		0.592	SAPCD1-203	KNOWN	basic	protein_coding	protein_coding			NM_001039651		10	88	0	0	0	0.001368	0	10	88		
CYP21A2	1589	broad.mit.edu	37	6	32008204	32008204	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:32008204G>A	ENST00000418967.2	+	8	1119	c.961G>A	c.(961-963)Gag>Aag	p.E321K	CYP21A2_ENST00000435122.2_Missense_Mutation_p.E291K	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	320					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	ACTGCAGGAGGAGCTAGACCA	0.662																																					Melanoma(174;1669 1998 3915 34700 46447)	uc003nze.1		NaN																	0					0						c.(961-963)GAG>AAG		cytochrome P450, family 21, subfamily A,							42.0	35.0	37.0					6																	32008204		2202	4298	6500	SO:0001583	missense	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:32008204G>A	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.961G>A	6.37:g.32008204G>A	ENSP00000408860:p.Glu321Lys					CYP21A2_uc003nzf.1_Missense_Mutation_p.E291K	p.E321K	NM_000500	NP_000491	P08686	CP21A_HUMAN			8	1079	+			320		E -> K (in AH3; simple virilizing form; 4% activity).			A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	ENST00000418967.2	37	c.961G>A	CCDS4735.1	.	.	.	.	.	.	.	.	.	.	g	31	5.104058	0.94245	.	.	ENSG00000231852	ENST00000418967;ENST00000435122	D;D	0.92397	-3.03;-3.03	5.09	5.09	0.68999	.	0.000000	0.49305	D	0.000156	D	0.97346	0.9132	H	0.97465	4.01	0.46396	D	0.999023	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98258	1.0497	10	0.87932	D	0	.	14.3517	0.66708	0.0:0.0:1.0:0.0	.	291;321	Q5ST44;Q16874	.;.	K	321;291	ENSP00000408860:E321K;ENSP00000415043:E291K	ENSP00000408860:E321K	E	+	1	0	CYP21A2	32116183	0.996000	0.38824	0.997000	0.53966	0.946000	0.59487	5.266000	0.65525	2.532000	0.85374	0.651000	0.88453	GAG		0.662	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2		NM_000500		7	43	0	0	0	0.004482	0	7	43		
TNXB	7148	broad.mit.edu	37	6	32053680	32053680	+	Missense_Mutation	SNP	C	C	T	rs373054105	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:32053680C>T	ENST00000375244.3	-	7	3196	c.2995G>A	c.(2995-2997)Gag>Aag	p.E999K	TNXB_ENST00000375247.2_Missense_Mutation_p.E999K			P22105	TENX_HUMAN	tenascin XB	1086	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCGGCCCCTCGGGCACCCGC	0.662													C|||	3	0.000599042	0.0015	0.0	5008	,	,		16272	0.0		0.0	False		,,,				2504	0.001					uc003nzl.2		NaN																	0					0						c.(2995-2997)GAG>AAG		tenascin XB isoform 1 precursor		C	LYS/GLU	2,2564		0,2,1281	60.0	70.0	67.0		2995	1.0	0.9	6		67	0,5108		0,0,2554	no	missense	TNXB	NM_019105.6	56	0,2,3835	TT,TC,CC		0.0,0.0779,0.0261	benign	999/4243	32053680	2,7672	1283	2554	3837	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32053680C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.2995G>A	6.37:g.32053680C>T	ENSP00000364393:p.Glu999Lys						p.E999K	NM_019105	NP_061978	P22105	TENX_HUMAN			7	3197	-			1086			Fibronectin type-III 3.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.2995G>A		.	.	.	.	.	.	.	.	.	.	C	11.56	1.675105	0.29783	7.79E-4	0.0	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04551	3.6;3.6	3.93	1.01	0.19927	.	0.503210	0.16776	N	0.199983	T	0.00666	0.0022	N	0.14661	0.345	0.21604	N	0.999624	P	0.35982	0.531	B	0.28638	0.092	T	0.46884	-0.9159	10	0.19147	T	0.46	.	4.412	0.11438	0.0:0.5453:0.218:0.2367	.	999	P22105-3	.	K	999	ENSP00000364393:E999K;ENSP00000364396:E999K	ENSP00000364393:E999K	E	-	1	0	TNXB	32161658	0.017000	0.18338	0.938000	0.37757	0.463000	0.32649	0.189000	0.17037	0.335000	0.23614	-0.356000	0.07607	GAG		0.662	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		26	185	0	0	0	0.004878	0	26	185		
AGER	177	broad.mit.edu	37	6	32150064	32150064	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:32150064G>A	ENST00000375076.4	-	8	1025	c.924C>T	c.(922-924)caC>caT	p.H308H	AGER_ENST00000375070.3_Silent_p.H339H|AGER_ENST00000375055.2_Silent_p.H308H|AGER_ENST00000375067.3_Intron|AGER_ENST00000375065.5_3'UTR|RNF5_ENST00000427134.2_Intron|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375069.3_Silent_p.H207H|AGER_ENST00000438221.2_Silent_p.H324H	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	308	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						CCTGGGGCCCGTGGCTGGAAT	0.637																																						uc003oal.1		NaN																	0				breast(1)	1						c.(922-924)CAC>CAT		advanced glycosylation end product-specific							80.0	77.0	78.0					6																	32150064		1508	2708	4216	SO:0001819	synonymous_variant	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32150064G>A	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.924C>T	6.37:g.32150064G>A						AGER_uc003oak.1_Silent_p.H37H|AGER_uc003oar.2_Silent_p.H207H|AGER_uc011dpm.1_Silent_p.H207H|AGER_uc011dpn.1_Missense_Mutation_p.T190M|AGER_uc010jtv.1_Intron|AGER_uc011dpo.1_Intron|AGER_uc003oam.1_RNA|AGER_uc003oan.1_Intron|AGER_uc003oap.1_Silent_p.H324H|AGER_uc003oat.1_Silent_p.H324H|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Silent_p.H294H|AGER_uc010jtw.1_Intron|AGER_uc003oas.1_Missense_Mutation_p.T291M|AGER_uc003oau.1_Silent_p.H308H|AGER_uc011dpp.1_Silent_p.H308H	p.H308H	NM_001136	NP_001127	Q15109	RAGE_HUMAN			8	948	-			308			Extracellular (Potential).|Ig-like C2-type 2.		A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Silent	SNP	ENST00000375076.4	37	c.924C>T	CCDS4746.1																																																																																				0.637	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1		NM_001136		65	98	0	0	0	0.00361	0	65	98		
BRD2	6046	broad.mit.edu	37	6	32945290	32945290	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:32945290C>G	ENST00000374825.4	+	8	2973	c.1272C>G	c.(1270-1272)aaC>aaG	p.N424K	BRD2_ENST00000374831.4_Missense_Mutation_p.N424K|BRD2_ENST00000449085.2_Missense_Mutation_p.N377K|BRD2_ENST00000395287.1_Missense_Mutation_p.N424K|BRD2_ENST00000395289.2_Missense_Mutation_p.N424K|BRD2_ENST00000443797.2_Missense_Mutation_p.N304K	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	424	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						TGTTCTCCAACTGCTATAAGT	0.488																																						uc003ocn.3		NaN																	0				central_nervous_system(3)|stomach(2)	5						c.(1270-1272)AAC>AAG		bromodomain containing 2							265.0	219.0	235.0					6																	32945290		1511	2709	4220	SO:0001583	missense	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32945290C>G	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1272C>G	6.37:g.32945290C>G	ENSP00000363958:p.Asn424Lys					BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.N424K|BRD2_uc003ocp.3_Missense_Mutation_p.N304K|BRD2_uc010juh.2_Missense_Mutation_p.N424K	p.N424K	NM_005104	NP_005095	P25440	BRD2_HUMAN			8	2973	+			424			Bromo 2.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	c.1272C>G	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.993786|3.993786	0.74703|0.74703	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085|ENST00000449025	T;T;T;T;T;T|.	0.65549|.	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Bromodomain (6);Bromodomain, conserved site (1);|.	0.000000|.	0.56097|.	D|.	0.000035|.	D|D	0.86785|0.86785	0.6016|0.6016	H|H	0.99074|0.99074	4.42|4.42	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.89910|0.89910	0.4051|0.4051	10|5	0.87932|.	D|.	0|.	-24.4555|-24.4555	9.6958|9.6958	0.40156|0.40156	0.0:0.9089:0.0:0.0911|0.0:0.9089:0.0:0.0911	.|.	424;424|.	A2AAU0;P25440|.	.;BRD2_HUMAN|.	K|S	424;424;424;304;424;377|430	ENSP00000363958:N424K;ENSP00000363964:N424K;ENSP00000378704:N424K;ENSP00000413495:N304K;ENSP00000378702:N424K;ENSP00000409145:N377K|.	ENSP00000363958:N424K|.	N|T	+|+	3|2	2|0	BRD2|BRD2	33053268|33053268	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.110000|3.110000	0.50352|0.50352	2.730000|2.730000	0.93505|0.93505	0.643000|0.643000	0.83706|0.83706	AAC|ACT		0.488	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2				31	221	0	0	0	0.005524	0	31	221		
RPS18	6222	broad.mit.edu	37	6	33244179	33244179	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:33244179G>A	ENST00000439602.2	+	6	505	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	RPS18_ENST00000474973.1_Missense_Mutation_p.R62Q|B3GALT4_ENST00000451237.1_5'Flank|RPS18_ENST00000476222.1_3'UTR			P62269	RS18_HUMAN	ribosomal protein S18	132					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CTTCGTGTCCGAGGCCAGCAC	0.493																																						uc003odp.1		NaN																	0					0						c.(394-396)CGA>CAA		ribosomal protein S18							41.0	42.0	41.0					6																	33244179		2203	4300	6503	SO:0001583	missense	6222				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr6:33244179G>A	X69150	CCDS4771.1	6p21.3	2011-04-05			ENSG00000231500	ENSG00000231500		"""S ribosomal proteins"""	10401	protein-coding gene	gene with protein product		180473		D6S218E		8441687, 9582194	Standard	NM_022551		Approved	KE3, KE-3, HKE3, S18	uc003odp.1	P62269	OTTHUMG00000031053	ENST00000439602.2:c.395G>A	6.37:g.33244179G>A	ENSP00000393241:p.Arg132Gln					RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank	p.R132Q	NM_022551	NP_072045	P62269	RS18_HUMAN			6	440	+			132					P25232|Q5SUJ3|Q6IPF8	Missense_Mutation	SNP	ENST00000439602.2	37	c.395G>A	CCDS4771.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334689	0.81801	.	.	ENSG00000231500	ENST00000439602;ENST00000474973	.	.	.	4.48	4.48	0.54585	Ribosomal protein S13, conserved site (1);Ribosomal protein S13-like, H2TH (1);	0.062950	0.64402	D	0.000012	D	0.84624	0.5513	H	0.97214	3.96	0.58432	D	0.999993	D	0.56521	0.976	D	0.66847	0.947	D	0.88749	0.3249	9	0.66056	D	0.02	.	12.5943	0.56459	0.0:0.0:1.0:0.0	.	132	P62269	RS18_HUMAN	Q	132;62	.	ENSP00000393241:R132Q	R	+	2	0	RPS18	33352157	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.151000	0.89636	2.348000	0.79779	0.472000	0.43445	CGA		0.493	RPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076059.2				5	33	0	0	0	0.001984	0	5	33		
GRM4	2914	broad.mit.edu	37	6	34101145	34101145	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:34101145G>A	ENST00000538487.2	-	2	572	c.129C>T	c.(127-129)atC>atT	p.I43I	GRM4_ENST00000374181.4_Silent_p.I43I|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	43					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CATCTATGCGGATGGAATTCA	0.617																																						uc003oir.3		NaN																	0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(127-129)ATC>ATT		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						43.0	39.0	40.0					6																	34101145		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34101145G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.129C>T	6.37:g.34101145G>A						GRM4_uc011dsn.1_Silent_p.I43I|GRM4_uc010jvh.2_Silent_p.I43I|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_Intron	p.I43I	NM_000841	NP_000832	Q14833	GRM4_HUMAN			1	299	-			43			Extracellular (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.129C>T	CCDS4787.1																																																																																				0.617	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2				5	86	0	0	0	0.004482	0	5	86		
SNRPC	6631	broad.mit.edu	37	6	34741334	34741334	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:34741334G>A	ENST00000244520.5	+	6	605	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	SNRPC_ENST00000374018.1_Missense_Mutation_p.R115Q|SNRPC_ENST00000374017.3_Missense_Mutation_p.R177Q	NM_003093.2	NP_003084.1			small nuclear ribonucleoprotein polypeptide C											endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GGAATGACTCGACCAGACAGA	0.537																																					NSCLC(131;576 1831 5287 11175 13324)	uc003ojt.1		NaN																	0				pancreas(1)	1						c.(466-468)CGA>CAA		small nuclear ribonucleoprotein polypeptide C							72.0	69.0	70.0					6																	34741334		2203	4300	6503	SO:0001583	missense	6631				spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding	g.chr6:34741334G>A		CCDS34436.1	6p21	2014-03-06			ENSG00000124562	ENSG00000124562			11157	protein-coding gene	gene with protein product		603522				2971157, 8532530	Standard	NR_029472		Approved	U1-C, Yhc1	uc003ojt.2	P09234	OTTHUMG00000014555	ENST00000244520.5:c.467G>A	6.37:g.34741334G>A	ENSP00000244520:p.Arg156Gln						p.R156Q	NM_003093	NP_003084	P09234	RU1C_HUMAN			6	482	+			156						Missense_Mutation	SNP	ENST00000244520.5	37	c.467G>A	CCDS34436.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026631	0.75390	.	.	ENSG00000124562	ENST00000244520;ENST00000374018;ENST00000374017	T;T;T	0.37915	1.17;1.17;1.17	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	L	0.31294	0.92	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.03394	-1.1041	10	0.33940	T	0.23	.	19.9933	0.97376	0.0:0.0:1.0:0.0	.	156	P09234	RU1C_HUMAN	Q	156;115;177	ENSP00000244520:R156Q;ENSP00000363130:R115Q;ENSP00000363129:R177Q	ENSP00000244520:R156Q	R	+	2	0	SNRPC	34849312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.330000	0.96422	2.744000	0.94065	0.542000	0.68232	CGA		0.537	SNRPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040255.1		NM_003093		9	115	0	0	0	0.010729	0	9	115		
SCUBE3	222663	broad.mit.edu	37	6	35216389	35216389	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:35216389C>T	ENST00000274938.7	+	22	2889	c.2889C>T	c.(2887-2889)ttC>ttT	p.F963F	SCUBE3_ENST00000394681.1_Silent_p.F979F	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGAACTACTTCAAGTACACAG	0.522																																						uc003okf.1		NaN																	0				skin(1)	1						c.(2887-2889)TTC>TTT		signal peptide, CUB domain, EGF-like 3							151.0	142.0	145.0					6																	35216389		2203	4300	6503	SO:0001819	synonymous_variant	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35216389C>T	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2889C>T	6.37:g.35216389C>T						SCUBE3_uc003okg.1_Silent_p.F962F|SCUBE3_uc003okh.1_Silent_p.F850F	p.F963F	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			22	2895	+			963						Silent	SNP	ENST00000274938.7	37	c.2889C>T	CCDS4800.1																																																																																				0.522	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1		NM_152753		18	115	0	0	0	0.007413	0	18	115		
SCUBE3	222663	broad.mit.edu	37	6	35216431	35216431	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:35216431C>A	ENST00000274938.7	+	22	2931	c.2931C>A	c.(2929-2931)ttC>ttA	p.F977L	SCUBE3_ENST00000394681.1_Missense_Mutation_p.F993L	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CAAAATCCTTCATCAAGCTGC	0.493																																						uc003okf.1		NaN																	0				skin(1)	1						c.(2929-2931)TTC>TTA		signal peptide, CUB domain, EGF-like 3							153.0	143.0	146.0					6																	35216431		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35216431C>A	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2931C>A	6.37:g.35216431C>A	ENSP00000274938:p.Phe977Leu					SCUBE3_uc003okg.1_Missense_Mutation_p.F976L|SCUBE3_uc003okh.1_Missense_Mutation_p.F864L	p.F977L	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			22	2937	+			977						Missense_Mutation	SNP	ENST00000274938.7	37	c.2931C>A	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270708	0.80469	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.84800	-1.5;-1.9	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.61697	0.99;0.982	D;D	0.72982	0.979;0.952	D	0.86904	0.2056	10	0.87932	D	0	.	13.3707	0.60711	0.0:0.9284:0.0:0.0716	.	993;977	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	L	993;977	ENSP00000378174:F993L;ENSP00000274938:F977L	ENSP00000274938:F977L	F	+	3	2	SCUBE3	35324409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.595000	0.61048	2.773000	0.95371	0.655000	0.94253	TTC		0.493	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1		NM_152753		16	89	1	0	1.5739e-10	0.004007	1.66784e-10	16	89		
ARMC12	221481	broad.mit.edu	37	6	35706280	35706280	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:35706280C>T	ENST00000373866.3	+	3	451	c.429C>T	c.(427-429)ttC>ttT	p.F143F	RP3-510O8.4_ENST00000452048.1_RNA|ARMC12_ENST00000373869.3_Silent_p.F143F|ARMC12_ENST00000288065.2_Silent_p.F170F			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	143						nucleus (GO:0005634)											TCAGAAAATTCAGGCTCAAAA	0.458																																						uc003ola.2		NaN																	0				ovary(1)	1						c.(508-510)TTC>TTT		hypothetical protein LOC221481							84.0	80.0	82.0					6																	35706280		2203	4300	6503	SO:0001819	synonymous_variant	221481						binding	g.chr6:35706280C>T	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.429C>T	6.37:g.35706280C>T						LOC285847_uc010jvy.1_5'Flank|C6orf81_uc003olb.1_Silent_p.F143F	p.F170F	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN			3	537	+			143					Q8NEB2|Q96LL8	Silent	SNP	ENST00000373866.3	37	c.510C>T																																																																																					0.458	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2		NM_145028		9	97	0	0	0	0.001368	0	9	97		
RNF8	9025	broad.mit.edu	37	6	37328321	37328321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:37328321G>A	ENST00000373479.4	+	2	404	c.211G>A	c.(211-213)Gag>Aag	p.E71K	RNF8_ENST00000394443.4_Missense_Mutation_p.E71K|RN7SL273P_ENST00000481561.2_RNA|RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.E71K	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	71	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GCAGAATCCTGAGGGCCAATG	0.383																																						uc003onq.3		NaN																	0				ovary(1)	1						c.(211-213)GAG>AAG		ring finger protein 8 isoform 1							107.0	101.0	103.0					6																	37328321		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37328321G>A	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.211G>A	6.37:g.37328321G>A	ENSP00000362578:p.Glu71Lys					RNF8_uc003onr.3_Missense_Mutation_p.E71K|RNF8_uc011dtx.1_5'UTR	p.E71K	NM_003958	NP_003949	O76064	RNF8_HUMAN			2	404	+			71			FHA.		A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.211G>A	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682637	0.68157	.	.	ENSG00000112130	ENST00000373479;ENST00000394443;ENST00000487950;ENST00000469731	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	4.88	4.01	0.46588	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.225652	0.40818	N	0.001002	D	0.83543	0.5277	L	0.58101	1.795	0.31281	N	0.69063	B;P	0.36837	0.024;0.571	B;P	0.50192	0.053;0.634	T	0.81061	-0.1103	10	0.59425	D	0.04	-2.7282	8.403	0.32597	0.0831:0.1549:0.762:0.0	.	14;71	C9J858;O76064	.;RNF8_HUMAN	K	71;71;14;71	ENSP00000362578:E71K;ENSP00000377961:E71K;ENSP00000417736:E14K;ENSP00000418879:E71K	ENSP00000229866:E71K	E	+	1	0	RNF8	37436299	1.000000	0.71417	0.889000	0.34880	0.881000	0.50899	4.280000	0.58959	1.195000	0.43115	-0.259000	0.10710	GAG		0.383	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2				9	62	0	0	0	0.006214	0	9	62		
CMTR1	23070	broad.mit.edu	37	6	37426534	37426534	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:37426534C>T	ENST00000373451.4	+	9	1088	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	308	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										CTAATGACTTCAAGCTGGAGG	0.522																																						uc003ons.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(922-924)TTC>TTT		FtsJ methyltransferase domain containing 2							110.0	96.0	101.0					6																	37426534		2203	4300	6503	SO:0001819	synonymous_variant	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37426534C>T	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.924C>T	6.37:g.37426534C>T						FTSJD2_uc010jwu.2_Silent_p.F252F	p.F308F	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN			9	1177	+			308					A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	c.924C>T	CCDS4835.1																																																																																				0.522	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1		NM_015050		9	119	0	0	0	0.008291	0	9	119		
TFEB	7942	broad.mit.edu	37	6	41655745	41655745	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:41655745G>T	ENST00000230323.4	-	6	872	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	TFEB_ENST00000358871.2_Missense_Mutation_p.L205M|TFEB_ENST00000403298.4_Missense_Mutation_p.L191M|TFEB_ENST00000373033.1_Missense_Mutation_p.L191M|TFEB_ENST00000394283.1_Missense_Mutation_p.L191M|TFEB_ENST00000420312.1_Missense_Mutation_p.L106M	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	191					autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TACACATTCAGGTGGCTGCTG	0.657			T	ALPHA	renal (childhood epithelioid)																																	uc003oqs.1		NaN		Dom	yes		6	6p21	7942	T	transcription factor EB			"""E,M"""	ALPHA		renal (childhood epithelioid)		0				ovary(1)	1						c.(571-573)CTG>ATG		transcription factor EB							58.0	59.0	58.0					6																	41655745		2203	4300	6503	SO:0001583	missense	7942				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr6:41655745G>T	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.571C>A	6.37:g.41655745G>T	ENSP00000230323:p.Leu191Met					TFEB_uc003oqt.1_Missense_Mutation_p.L191M|TFEB_uc003oqu.1_Missense_Mutation_p.L205M|TFEB_uc003oqv.1_Missense_Mutation_p.L191M|TFEB_uc010jxo.1_Missense_Mutation_p.L191M|TFEB_uc003oqr.1_Missense_Mutation_p.L106M	p.L191M	NM_007162	NP_009093	P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		6	873	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		191					Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Missense_Mutation	SNP	ENST00000230323.4	37	c.571C>A	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246190	0.39697	.	.	ENSG00000112561	ENST00000406563;ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033;ENST00000394283;ENST00000419396;ENST00000416140;ENST00000419574	T;T;T;T;T;T;T;T;T;T;T	0.49720	1.58;1.27;1.33;1.3;1.33;1.44;1.33;1.02;1.02;0.86;0.77	5.25	4.38	0.52667	.	0.068568	0.64402	D	0.000014	T	0.28101	0.0693	L	0.36672	1.1	0.46774	D	0.999197	P;P;P;D	0.56521	0.675;0.506;0.506;0.976	B;B;B;P	0.50314	0.241;0.091;0.091;0.637	T	0.20174	-1.0283	10	0.49607	T	0.09	-19.7712	4.9137	0.13835	0.1709:0.0:0.6116:0.2175	.	277;205;191;106	B0QYS7;B0QYS6;P19484;P19484-2	.;.;TFEB_HUMAN;.	M	49;277;191;205;191;106;191;191;191;191;191	ENSP00000383998:L49M;ENSP00000343948:L277M;ENSP00000230323:L191M;ENSP00000351742:L205M;ENSP00000384203:L191M;ENSP00000412551:L106M;ENSP00000362124:L191M;ENSP00000377824:L191M;ENSP00000410391:L191M;ENSP00000406491:L191M;ENSP00000400276:L191M	ENSP00000230323:L191M	L	-	1	2	TFEB	41763723	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.179000	0.42528	1.207000	0.43291	0.555000	0.69702	CTG		0.657	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3				30	153	1	0	1.06801e-11	0.009535	1.13641e-11	30	153		
TAF8	129685	broad.mit.edu	37	6	42034150	42034150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:42034150C>G	ENST00000372977.3	+	6	608	c.590C>G	c.(589-591)aCa>aGa	p.T197R	TAF8_ENST00000372982.4_Missense_Mutation_p.T197R|TAF8_ENST00000465926.1_Missense_Mutation_p.T134R|TAF8_ENST00000456846.2_Missense_Mutation_p.T197R|TAF8_ENST00000494547.1_Missense_Mutation_p.T197R	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	197					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			ATGGCCAAGACAGGCGAGACT	0.537																																						uc003ors.2		NaN																	0				ovary(1)	1						c.(589-591)ACA>AGA		TBP-associated factor 8							81.0	87.0	85.0					6																	42034150		2083	4217	6300	SO:0001583	missense	129685				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding	g.chr6:42034150C>G	AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa"", ""taube nuss homolog (mouse)"""	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.590C>G	6.37:g.42034150C>G	ENSP00000362068:p.Thr197Arg					TAF8_uc003ort.2_Missense_Mutation_p.T197R|TAF8_uc003oru.1_Missense_Mutation_p.T197R|TAF8_uc003orv.1_Missense_Mutation_p.T197R|TAF8_uc011dun.1_Missense_Mutation_p.T134R	p.T197R	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)		6	619	+	Colorectal(47;0.196)		197					Q5T0K1|Q8N4R9|Q96M52	Missense_Mutation	SNP	ENST00000372977.3	37	c.590C>G	CCDS43462.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206007	0.95033	.	.	ENSG00000137413	ENST00000456846;ENST00000494547;ENST00000372982;ENST00000372977;ENST00000465926	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.81123	0.4757	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.998;0.997	T	0.79135	-0.1928	9	0.51188	T	0.08	-17.9702	20.4549	0.99139	0.0:1.0:0.0:0.0	.	134;197;197;197	B4DZU5;Q7Z7C8-2;Q7Z7C8-4;Q7Z7C8	.;.;.;TAF8_HUMAN	R	197;197;197;197;134	.	ENSP00000362068:T197R	T	+	2	0	TAF8	42142128	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.466000	0.80914	2.937000	0.99478	0.650000	0.86243	ACA		0.537	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357901.1		NM_138572		15	80	0	0	0	0.004007	0	15	80		
TRERF1	55809	broad.mit.edu	37	6	42236470	42236470	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:42236470C>G	ENST00000372922.4	-	5	1421	c.859G>C	c.(859-861)Gaa>Caa	p.E287Q	TRERF1_ENST00000354325.2_Missense_Mutation_p.E287Q|TRERF1_ENST00000340840.2_Missense_Mutation_p.E287Q|TRERF1_ENST00000541110.1_Missense_Mutation_p.E287Q|TRERF1_ENST00000372917.4_Missense_Mutation_p.E287Q	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	287	Gln-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTCTGTATTTCTTGCATGGAG	0.597																																						uc003osd.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(859-861)GAA>CAA		transcriptional regulating factor 1							59.0	57.0	58.0					6																	42236470		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42236470C>G	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.859G>C	6.37:g.42236470C>G	ENSP00000362013:p.Glu287Gln					TRERF1_uc011duq.1_Missense_Mutation_p.E287Q|TRERF1_uc003osb.2_Missense_Mutation_p.E126Q|TRERF1_uc003osc.2_Missense_Mutation_p.E126Q|TRERF1_uc003ose.2_Missense_Mutation_p.E287Q	p.E287Q	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1422	-	Colorectal(47;0.196)		287			Gln-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.859G>C	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190773	0.38707	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.13420	2.81;2.59;2.81;2.59;2.59	5.52	5.52	0.82312	.	0.000000	0.49916	D	0.000131	T	0.05686	0.0149	L	0.27053	0.805	0.40152	D	0.976966	B;B;B;B;B	0.25007	0.033;0.116;0.061;0.033;0.033	B;B;B;B;B	0.22880	0.042;0.027;0.019;0.031;0.031	T	0.30238	-0.9985	10	0.23302	T	0.38	-9.2054	19.4403	0.94817	0.0:1.0:0.0:0.0	.	287;287;287;126;126	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	Q	287	ENSP00000439689:E287Q;ENSP00000362008:E287Q;ENSP00000362013:E287Q;ENSP00000339438:E287Q;ENSP00000346285:E287Q	ENSP00000339438:E287Q	E	-	1	0	TRERF1	42344448	0.989000	0.36119	1.000000	0.80357	0.849000	0.48306	2.921000	0.48852	2.586000	0.87340	0.561000	0.74099	GAA		0.597	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2		NM_033502		32	223	0	0	0	0.007835	0	32	223		
YIPF3	25844	broad.mit.edu	37	6	43481347	43481347	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:43481347G>C	ENST00000372422.2	-	4	602	c.420C>G	c.(418-420)atC>atG	p.I140M	LRRC73_ENST00000372441.1_5'Flank|YIPF3_ENST00000506469.1_Missense_Mutation_p.I146M	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	140					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TGACCATCTTGATAGGGATCA	0.562																																						uc003ovl.1		NaN																	0					0						c.(418-420)ATC>ATG		natural killer cell-specific antigen KLIP1							51.0	53.0	52.0					6																	43481347		2203	4300	6503	SO:0001583	missense	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43481347G>C	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.420C>G	6.37:g.43481347G>C	ENSP00000361499:p.Ile140Met					C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Missense_Mutation_p.I105M|YIPF3_uc010jyr.1_Missense_Mutation_p.I146M|YIPF3_uc010jys.1_Intron|YIPF3_uc003ovm.1_Missense_Mutation_p.I14M|YIPF3_uc010jyt.1_Intron	p.I140M	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		4	577	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		140					Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	ENST00000372422.2	37	c.420C>G	CCDS4899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.94|12.94	2.089787|2.089787	0.36855|0.36855	.|.	.|.	ENSG00000137207|ENSG00000137207	ENST00000372422;ENST00000506469;ENST00000503972;ENST00000511831|ENST00000500090	T;T;T|.	0.45668|.	0.9;0.9;0.89|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.225144|.	0.45361|.	D|.	0.000365|.	T|.	0.45637|.	0.1352|.	L|L	0.34521|0.34521	1.04|1.04	0.40064|0.40064	D|D	0.975931|0.975931	B;P;B|.	0.36837|.	0.126;0.571;0.126|.	B;B;B|.	0.37989|.	0.262;0.221;0.262|.	T|.	0.34825|.	-0.9813|.	10|.	0.48119|.	T|.	0.1|.	-20.0719|-20.0719	14.5466|14.5466	0.68035|0.68035	0.0:0.2567:0.7433:0.0|0.0:0.2567:0.7433:0.0	.|.	146;105;140|.	E7EQR8;Q5JTD5;Q9GZM5|.	.;.;YIPF3_HUMAN|.	M|X	140;146;140;105|78	ENSP00000361499:I140M;ENSP00000425494:I146M;ENSP00000421461:I140M|.	ENSP00000361499:I140M|.	I|S	-|-	3|2	3|0	YIPF3|YIPF3	43589325|43589325	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.957000|2.957000	0.49137|0.49137	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	ATC|TCA		0.562	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2		NM_015388		4	95	0	0	0	0.009096	0	4	95		
NFKBIE	4794	broad.mit.edu	37	6	44227806	44227806	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:44227806C>T	ENST00000275015.5	-	5	1410	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K	SLC35B2_ENST00000495706.1_5'Flank|SLC35B2_ENST00000393810.1_5'Flank|SLC35B2_ENST00000537814.1_5'Flank|SLC35B2_ENST00000393812.3_5'Flank|SLC35B2_ENST00000538577.1_5'Flank	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	471					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGGGGCGTCTCATCCTCCACA	0.587																																						uc003oxe.1		NaN																	0				breast(2)	2						c.(1411-1413)GAG>AAG		nuclear factor of kappa light polypeptide gene							55.0	52.0	53.0					6																	44227806		2203	4300	6503	SO:0001583	missense	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44227806C>T	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.1411G>A	6.37:g.44227806C>T	ENSP00000275015:p.Glu471Lys					SLC35B2_uc003oxd.2_5'Flank|SLC35B2_uc011dvt.1_5'Flank|SLC35B2_uc011dvu.1_5'Flank	p.E471K	NM_004556	NP_004547	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	1436	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		471					Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	c.1411G>A	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419903	0.96111	.	.	ENSG00000146232	ENST00000275015;ENST00000443607	T	0.37058	1.22	4.63	4.63	0.57726	Ankyrin repeat-containing domain (3);	0.063133	0.64402	D	0.000007	T	0.38719	0.1051	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.27706	-1.0066	10	0.42905	T	0.14	-1.4351	17.5006	0.87730	0.0:1.0:0.0:0.0	.	471	O00221	IKBE_HUMAN	K	471;72	ENSP00000275015:E471K	ENSP00000275015:E471K	E	-	1	0	NFKBIE	44335784	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.472000	0.80996	2.108000	0.64289	0.561000	0.74099	GAG		0.587	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2				16	103	0	0	0	0.008871	0	16	103		
GPR116	221395	broad.mit.edu	37	6	46851331	46851331	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:46851331G>A	ENST00000283296.7	-	6	865	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	GPR116_ENST00000362015.4_Missense_Mutation_p.L193F|GPR116_ENST00000456426.2_Missense_Mutation_p.L193F|GPR116_ENST00000265417.7_Missense_Mutation_p.L193F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	193	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GACCTATAGAGGGCGGAGGAA	0.428																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(577-579)CTC>TTC		G-protein coupled receptor 116 precursor							98.0	90.0	93.0					6																	46851331		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46851331G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.577C>T	6.37:g.46851331G>A	ENSP00000283296:p.Leu193Phe					GPR116_uc003oyp.3_Missense_Mutation_p.L193F|GPR116_uc003oyq.3_Missense_Mutation_p.L193F|GPR116_uc003oyr.2_Missense_Mutation_p.L193F	p.L193F	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		6	866	-			193			SEA.|Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.577C>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822066	0.71028	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.71	3.9	0.45041	SEA (2);	0.000000	0.48767	D	0.000166	T	0.50188	0.1601	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.55283	-0.8165	10	0.59425	D	0.04	-19.8246	8.1029	0.30868	0.1807:0.0:0.8193:0.0	.	193;193;193	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	F	193	ENSP00000283296:L193F;ENSP00000354563:L193F;ENSP00000412866:L193F;ENSP00000265417:L193F	ENSP00000265417:L193F	L	-	1	0	GPR116	46959290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.060000	0.41394	1.385000	0.46445	0.655000	0.94253	CTC		0.428	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2		NM_015234		6	36	0	0	0	0.00308	0	6	36		
TFAP2B	7021	broad.mit.edu	37	6	50805697	50805697	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:50805697G>A	ENST00000393655.3	+	5	1000	c.831G>A	c.(829-831)tcG>tcA	p.S277S	TFAP2B_ENST00000263046.4_Silent_p.S286S	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	277					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|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)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GAGCCAAATCGAAAAATGGGG	0.433																																					Pancreas(116;1373 2332 5475 10752)	uc003pag.2		NaN																	0					0						c.(829-831)TCG>TCA		transcription factor AP-2 beta							83.0	94.0	90.0					6																	50805697		2203	4300	6503	SO:0001819	synonymous_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50805697G>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.831G>A	6.37:g.50805697G>A							p.S277S	NM_003221	NP_003212	Q92481	AP2B_HUMAN			5	997	+	Lung NSC(77;0.156)		277					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	c.831G>A	CCDS4934.2																																																																																				0.433	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3		NM_003221		7	85	0	0	0	0.00308	0	7	85		
DST	667	broad.mit.edu	37	6	56464987	56464987	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:56464987C>G	ENST00000361203.3	-	41	10948	c.10941G>C	c.(10939-10941)gaG>gaC	p.E3647D	DST_ENST00000370788.2_Missense_Mutation_p.E1561D|DST_ENST00000312431.6_Missense_Mutation_p.E3647D|DST_ENST00000244364.6_Missense_Mutation_p.E1235D|DST_ENST00000370769.4_Missense_Mutation_p.E3649D|DST_ENST00000421834.2_Missense_Mutation_p.E1561D|DST_ENST00000446842.2_Missense_Mutation_p.E3323D|DST_ENST00000370754.5_Missense_Mutation_p.E3827D			Q03001	DYST_HUMAN	dystonin	3647					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTGGAGTTTCTCTTTATACT	0.403																																						uc003pdf.2		NaN																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(5215-5217)GAG>GAC		dystonin isoform 2							165.0	155.0	158.0					6																	56464987		1848	4083	5931	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56464987C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10941G>C	6.37:g.56464987C>G	ENSP00000354508:p.Glu3647Asp					DST_uc003pcz.3_Missense_Mutation_p.E1561D|DST_uc011dxj.1_Missense_Mutation_p.E1590D|DST_uc011dxk.1_Missense_Mutation_p.E1601D|DST_uc003pcy.3_Missense_Mutation_p.E1235D|DST_uc010kaa.1_5'Flank	p.E1739D	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	5245	-	Lung NSC(77;0.103)		3647					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.5217G>C		.	.	.	.	.	.	.	.	.	.	C	11.50	1.657007	0.29425	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	6.05	-0.0333	0.13901	.	0.271413	0.26297	N	0.025195	T	0.15869	0.0382	L	0.41824	1.3	0.25163	N	0.990336	B;B;B;B;B	0.20368	0.022;0.004;0.044;0.007;0.016	B;B;B;B;B	0.28465	0.011;0.02;0.09;0.007;0.017	T	0.08743	-1.0707	9	0.25106	T	0.35	.	5.7198	0.17980	0.0:0.3755:0.2893:0.3352	.	1561;3649;3827;3647;1235	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	D	1235;3827;3649;1561;3323;3647;1561;3647	ENSP00000244364:E1235D;ENSP00000359790:E3827D;ENSP00000359805:E3649D;ENSP00000400883:E1561D;ENSP00000393645:E3323D;ENSP00000307959:E3647D;ENSP00000359824:E1561D;ENSP00000354508:E3647D	ENSP00000244364:E1235D	E	-	3	2	DST	56572946	0.819000	0.29175	1.000000	0.80357	0.903000	0.53119	-0.163000	0.09997	0.355000	0.24131	0.650000	0.86243	GAG		0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723		8	22	0	0	0	0.00308	0	8	22		
DST	667	broad.mit.edu	37	6	56479189	56479189	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:56479189C>G	ENST00000361203.3	-	33	4397	c.4390G>C	c.(4390-4392)Gag>Cag	p.E1464Q	DST_ENST00000370788.2_Missense_Mutation_p.E1464Q|DST_ENST00000312431.6_Missense_Mutation_p.E1464Q|DST_ENST00000244364.6_Missense_Mutation_p.E1138Q|DST_ENST00000370769.4_Missense_Mutation_p.E1464Q|DST_ENST00000421834.2_Missense_Mutation_p.E1464Q|DST_ENST00000446842.2_Missense_Mutation_p.E1138Q|DST_ENST00000370754.5_Missense_Mutation_p.E1642Q			Q03001	DYST_HUMAN	dystonin	1464					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCAGCCTTCTCTGCATCTTTC	0.373																																						uc003pdf.2		NaN																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(4924-4926)GAG>CAG		dystonin isoform 2							181.0	163.0	168.0					6																	56479189		1833	4089	5922	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56479189C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4390G>C	6.37:g.56479189C>G	ENSP00000354508:p.Glu1464Gln					DST_uc003pcz.3_Missense_Mutation_p.E1464Q|DST_uc011dxj.1_Missense_Mutation_p.E1493Q|DST_uc011dxk.1_Missense_Mutation_p.E1504Q|DST_uc003pcy.3_Missense_Mutation_p.E1138Q|DST_uc003pdb.2_Missense_Mutation_p.E1138Q	p.E1642Q	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		36	4952	-	Lung NSC(77;0.103)		3540					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4924G>C		.	.	.	.	.	.	.	.	.	.	C	17.59	3.426334	0.62733	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203	T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.88	5.88	0.94601	.	0.114937	0.38058	N	0.001825	T	0.29321	0.0730	L	0.43152	1.355	0.22366	N	0.999165	B;D;D;P;B;P	0.67145	0.149;0.996;0.99;0.602;0.149;0.731	B;P;P;B;B;B	0.59487	0.064;0.858;0.78;0.401;0.064;0.3	T	0.00664	-1.1620	9	0.17832	T	0.49	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	1464;1464;1642;1138;1464;1138	Q5TBT1;E7ERU2;E9PEB9;Q03001-9;Q03001;Q03001-8	.;.;.;.;DYST_HUMAN;.	Q	1138;1642;1464;1464;1138;1464;1464;1464;1138	ENSP00000244364:E1138Q;ENSP00000359790:E1642Q;ENSP00000359805:E1464Q;ENSP00000400883:E1464Q;ENSP00000393645:E1138Q;ENSP00000307959:E1464Q;ENSP00000359824:E1464Q;ENSP00000354508:E1464Q;ENSP00000404924:E1138Q	ENSP00000244364:E1138Q	E	-	1	0	DST	56587148	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.307000	0.51888	2.788000	0.95919	0.650000	0.86243	GAG		0.373	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723		4	13	0	0	0	0.009096	0	4	13		
KCNQ5	56479	broad.mit.edu	37	6	73843259	73843259	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:73843259G>T	ENST00000370398.1	+	10	1472	c.1363G>T	c.(1363-1365)Gag>Tag	p.E455*	KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.E465*|KCNQ5_ENST00000342056.2_Nonsense_Mutation_p.E474*|KCNQ5-AS1_ENST00000429832.1_RNA|KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.E446*|KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.E455*|KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.E456*|KCNQ5_ENST00000414165.2_Intron	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	455					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CATCACAGCCGAGGGCAGTCC	0.592																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2		NaN																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(1363-1365)GAG>TAG		potassium voltage-gated channel, KQT-like							102.0	102.0	102.0					6																	73843259		2203	4300	6503	SO:0001587	stop_gained	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73843259G>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1363G>T	6.37:g.73843259G>T	ENSP00000359425:p.Glu455*					KCNQ5_uc011dyh.1_Nonsense_Mutation_p.E474*|KCNQ5_uc011dyi.1_Nonsense_Mutation_p.E465*|KCNQ5_uc010kat.2_Nonsense_Mutation_p.E446*|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Nonsense_Mutation_p.E205*	p.E455*	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	10	1710	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	455					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Nonsense_Mutation	SNP	ENST00000370398.1	37	c.1363G>T	CCDS4976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.662057|4.662057	0.88251|0.88251	.|.	.|.	ENSG00000185760|ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813|ENST00000427928	.|.	.|.	.|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.268023|.	0.35838|.	N|.	0.002948|.	.|T	.|0.68815	.|0.3042	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65853	.|-0.6067	.|4	0.52906|.	T|.	0.07|.	.|.	18.1396|18.1396	0.89634|0.89634	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	474;474;455;455;465;456;446|46	.|.	ENSP00000345055:E474X|.	E|R	+|+	1|2	0|0	KCNQ5|KCNQ5	73899980|73899980	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.979000|0.979000	0.70002|0.70002	7.582000|7.582000	0.82546|0.82546	2.797000|2.797000	0.96272|0.96272	0.563000|0.563000	0.77884|0.77884	GAG|CGA		0.592	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3		NM_019842		9	106	1	0	0.00621372	0.006214	0.00633594	9	106		
DOPEY1	23033	broad.mit.edu	37	6	83841961	83841961	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:83841961G>C	ENST00000349129.2	+	18	2943	c.2683G>C	c.(2683-2685)Gaa>Caa	p.E895Q	DOPEY1_ENST00000369739.3_Missense_Mutation_p.E886Q|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E876Q	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	895					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAAGAGTGTGGAACTATTTTA	0.368																																						uc003pjs.1		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(2683-2685)GAA>CAA		dopey family member 1							152.0	148.0	150.0					6																	83841961		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83841961G>C	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2683G>C	6.37:g.83841961G>C	ENSP00000195654:p.Glu895Gln					DOPEY1_uc011dyy.1_Missense_Mutation_p.E886Q|DOPEY1_uc010kbl.1_Missense_Mutation_p.E886Q	p.E895Q	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	18	2943	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	895					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.2683G>C	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072662	0.93950	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.26373	1.74;1.75	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	M	0.77313	2.365	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.77557	0.984;0.99;0.99	T	0.46400	-0.9194	10	0.56958	D	0.05	.	20.0782	0.97758	0.0:0.0:1.0:0.0	.	786;886;895	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	Q	895;876;876	ENSP00000195654:E895Q;ENSP00000237163:E876Q	ENSP00000237163:E876Q	E	+	1	0	DOPEY1	83898680	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.476000	0.97823	2.746000	0.94184	0.655000	0.94253	GAA		0.368	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2		NM_015018		9	57	0	0	0	0.008291	0	9	57		
SNX14	57231	broad.mit.edu	37	6	86256945	86256945	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:86256945C>G	ENST00000314673.3	-	12	1170		c.e12-1		SNX14_ENST00000513865.1_Splice_Site|SNX14_ENST00000508980.1_Splice_Site|SNX14_ENST00000505648.1_Splice_Site|SNX14_ENST00000346348.3_Splice_Site|SNX14_ENST00000369627.2_Splice_Site	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14						protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACTTCAGCACCTTGATATAAG	0.318																																						uc003pkr.2		NaN																	0					0						c.e12-1		sorting nexin 14 isoform a							73.0	67.0	69.0					6																	86256945		2203	4300	6503	SO:0001630	splice_region_variant	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86256945C>G	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.994-1G>C	6.37:g.86256945C>G						SNX14_uc003pkp.2_Splice_Site_p.V195_splice|SNX14_uc003pkq.2_Splice_Site|SNX14_uc011dzg.1_Splice_Site_p.V280_splice|SNX14_uc003pks.2_Splice_Site_p.V288_splice|SNX14_uc003pkt.2_Splice_Site_p.V332_splice	p.V332_splice	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	12	1187	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)						B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Splice_Site	SNP	ENST00000314673.3	37	c.994_splice	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390207	0.62066	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7694	0.91885	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNX14	86313664	1.000000	0.71417	0.998000	0.56505	0.762000	0.43233	7.280000	0.78610	2.422000	0.82143	0.655000	0.94253	.		0.318	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2		NM_153816	Intron	3	18	0	0	0	0.004672	0	3	18		
ZNF292	23036	broad.mit.edu	37	6	87969858	87969858	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:87969858G>C	ENST00000369577.3	+	8	6554	c.6511G>C	c.(6511-6513)Gaa>Caa	p.E2171Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.E2166Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2171						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACTTTGAAAGAATTTCGATG	0.368																																						uc003plm.3		NaN																	0				ovary(4)	4						c.(6511-6513)GAA>CAA		zinc finger protein 292							141.0	141.0	141.0					6																	87969858		1837	4089	5926	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969858G>C	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6511G>C	6.37:g.87969858G>C	ENSP00000358590:p.Glu2171Gln						p.E2171Q	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6552	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2171					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.6511G>C	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548013	0.86022	.	.	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	T;T;T	0.42900	0.96;0.96;0.96	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.53546	0.1803	L	0.49640	1.575	0.48901	D	0.999721	D	0.76494	0.999	D	0.80764	0.994	T	0.50389	-0.8834	10	0.48119	T	0.1	.	19.4685	0.94952	0.0:0.0:1.0:0.0	.	2171	O60281	ZN292_HUMAN	Q	2171;2166;89	ENSP00000358590:E2171Q;ENSP00000342847:E2166Q;ENSP00000428857:E89Q	ENSP00000342847:E2166Q	E	+	1	0	ZNF292	88026577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.601000	0.87937	0.591000	0.81541	GAA		0.368	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2		NM_015021		5	38	0	0	0	0.001168	0	5	38		
NR2E1	7101	broad.mit.edu	37	6	108496093	108496093	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:108496093G>A	ENST00000368986.4	+	3	933	c.225G>A	c.(223-225)ctG>ctA	p.L75L	NR2E1_ENST00000368983.3_Silent_p.L112L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	75					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CGTGTCGGCTGAAGAAGTGTT	0.483																																						uc003psg.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(223-225)CTG>CTA		nuclear receptor subfamily 2, group E, member 1							126.0	109.0	115.0					6																	108496093		2203	4300	6503	SO:0001819	synonymous_variant	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108496093G>A	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.225G>A	6.37:g.108496093G>A							p.L75L	NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	3	980	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	75			Nuclear receptor.|NR C4-type.		Q6ZMP8	Silent	SNP	ENST00000368986.4	37	c.225G>A	CCDS5063.1																																																																																				0.483	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2				18	86	0	0	0	0.00333	0	18	86		
LAMA4	3910	broad.mit.edu	37	6	112476811	112476811	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:112476811C>T	ENST00000230538.7	-	15	2312	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	LAMA4_ENST00000424408.2_Missense_Mutation_p.E632K|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.E632K|RP1-142L7.5_ENST00000425503.1_RNA|RP1-142L7.5_ENST00000588689.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.E632K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	639	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTGCTGTTTCATTGGCTTCA	0.388																																						uc003pvu.2		NaN																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(1915-1917)GAA>AAA		laminin, alpha 4 isoform 1 precursor							143.0	139.0	141.0					6																	112476811		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112476811C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1915G>A	6.37:g.112476811C>T	ENSP00000230538:p.Glu639Lys					LAMA4_uc003pvv.2_Missense_Mutation_p.E632K|LAMA4_uc003pvt.2_Missense_Mutation_p.E632K	p.E639K	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	15	2224	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	639			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1915G>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	8.831	0.939982	0.18281	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.11495	2.78;2.77;2.77;2.77	5.42	5.42	0.78866	.	0.210114	0.51477	D	0.000099	T	0.02571	0.0078	N	0.19112	0.55	0.80722	D	1	B;B	0.20052	0.024;0.041	B;B	0.14578	0.005;0.011	T	0.40757	-0.9546	10	0.11485	T	0.65	.	12.2959	0.54847	0.0:0.8301:0.1699:0.0	.	639;632	Q16363;Q16363-2	LAMA4_HUMAN;.	K	639;632;632;632	ENSP00000230538:E639K;ENSP00000429488:E632K;ENSP00000374114:E632K;ENSP00000416470:E632K	ENSP00000230538:E639K	E	-	1	0	LAMA4	112583504	0.993000	0.37304	0.958000	0.39756	0.986000	0.74619	1.209000	0.32357	2.817000	0.96982	0.563000	0.77884	GAA		0.388	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2		NM_001105206		18	91	0	0	0	0.002299	0	18	91		
HDAC2	3066	broad.mit.edu	37	6	114274470	114274470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:114274470C>T	ENST00000519065.1	-	6	986	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	HDAC2_ENST00000368632.2_Missense_Mutation_p.E174K|HDAC2_ENST00000519108.1_Missense_Mutation_p.E174K|HDAC2_ENST00000398283.2_Missense_Mutation_p.E298K			Q92769	HDAC2_HUMAN	histone deacetylase 2	204	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GGAAAGTATTCCCCATATTTA	0.348																																						uc003pwd.1		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(892-894)GAA>AAA		histone deacetylase 2	Vorinostat(DB02546)						177.0	165.0	169.0					6																	114274470		1852	4087	5939	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114274470C>T	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.610G>A	6.37:g.114274470C>T	ENSP00000430432:p.Glu204Lys					HDAC2_uc003pwc.1_Missense_Mutation_p.E174K|HDAC2_uc003pwe.1_Missense_Mutation_p.E174K	p.E298K	NM_001527	NP_001518	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	6	892	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	204			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.892G>A	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401831	0.83120	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.76	5.76	0.90799	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000001	T	0.56630	0.1998	L	0.35414	1.06	0.80722	D	1	B;P	0.46220	0.065;0.874	B;P	0.45195	0.035;0.473	T	0.63065	-0.6720	10	0.87932	D	0	-39.7553	20.3431	0.98773	0.0:1.0:0.0:0.0	.	174;204	B3KRS5;Q92769	.;HDAC2_HUMAN	K	204;298;174;174	ENSP00000430432:E204K;ENSP00000381331:E298K;ENSP00000430008:E174K;ENSP00000357621:E174K	ENSP00000357621:E174K	E	-	1	0	HDAC2	114381163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.920000	0.63390	2.880000	0.98712	0.650000	0.86243	GAA		0.348	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2				17	120	0	0	0	0.008871	0	17	120		
RFX6	222546	broad.mit.edu	37	6	117245835	117245835	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:117245835C>G	ENST00000332958.2	+	15	1575	c.1559C>G	c.(1558-1560)tCt>tGt	p.S520C		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	520					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.S520Y(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AAACAAGGTTCTTTTCATTTG	0.393																																						uc003pxm.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1558-1560)TCT>TGT		regulatory factor X, 6							131.0	127.0	128.0					6																	117245835		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117245835C>G	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1559C>G	6.37:g.117245835C>G	ENSP00000332208:p.Ser520Cys						p.S520C	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			15	1622	+			520					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1559C>G	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344418	0.82022	.	.	ENSG00000185002	ENST00000332958	T	0.64991	-0.13	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.79759	0.4501	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.82544	-0.0404	10	0.87932	D	0	-18.9274	19.3617	0.94442	0.0:1.0:0.0:0.0	.	520	Q8HWS3	RFX6_HUMAN	C	520	ENSP00000332208:S520C	ENSP00000332208:S520C	S	+	2	0	RFX6	117352528	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.398000	0.79919	2.646000	0.89796	0.655000	0.94253	TCT		0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2		NM_173560		5	48	0	0	0	0.001168	0	5	48		
PTPRK	5796	broad.mit.edu	37	6	128410865	128410865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:128410865C>A	ENST00000368215.3	-	8	1434	c.1435G>T	c.(1435-1437)Gaa>Taa	p.E479*	PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.E479*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.E479*|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.E479*|PTPRK_ENST00000368227.3_Nonsense_Mutation_p.E479*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.E479*|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.E479*			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	479	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATTGTCTCTTCACTCTCCTTC	0.408																																						uc003qbk.2		NaN																	0				ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(1435-1437)GAA>TAA		protein tyrosine phosphatase, receptor type, K							192.0	178.0	183.0					6																	128410865		2203	4300	6503	SO:0001587	stop_gained	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128410865C>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1435G>T	6.37:g.128410865C>A	ENSP00000357198:p.Glu479*					PTPRK_uc003qbj.2_Nonsense_Mutation_p.E479*|PTPRK_uc010kfc.2_Nonsense_Mutation_p.E479*|PTPRK_uc011ebu.1_Nonsense_Mutation_p.E479*|PTPRK_uc003qbl.1_Nonsense_Mutation_p.E349*|PTPRK_uc011ebv.1_Nonsense_Mutation_p.E479*	p.E479*	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	8	1802	-			479			Extracellular (Potential).|Fibronectin type-III 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Nonsense_Mutation	SNP	ENST00000368215.3	37	c.1435G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.892378	0.98545	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	.	.	.	5.73	5.73	0.89815	.	0.051550	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8939	0.96942	0.0:1.0:0.0:0.0	.	.	.	.	X	479;479;479;479;479;479;479;336	.	ENSP00000357190:E479X	E	-	1	0	PTPRK	128452558	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.070000	0.71220	2.706000	0.92434	0.585000	0.79938	GAA		0.408	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1				10	104	1	0	0.000151284	0.001855	0.000155607	10	104		
PTPRK	5796	broad.mit.edu	37	6	128505838	128505838	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:128505838G>A	ENST00000368215.3	-	7	900	c.901C>T	c.(901-903)Ctt>Ttt	p.L301F	PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.L301F|PTPRK_ENST00000368207.3_Missense_Mutation_p.L301F|PTPRK_ENST00000368210.3_Missense_Mutation_p.L301F|PTPRK_ENST00000368227.3_Missense_Mutation_p.L301F|PTPRK_ENST00000368213.5_Missense_Mutation_p.L301F|PTPRK_ENST00000532331.1_Missense_Mutation_p.L301F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	301	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCAACACCAAGAAGCTGAGGA	0.408																																						uc003qbk.2		NaN																	0				ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(901-903)CTT>TTT		protein tyrosine phosphatase, receptor type, K							79.0	74.0	76.0					6																	128505838		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128505838G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.901C>T	6.37:g.128505838G>A	ENSP00000357198:p.Leu301Phe					PTPRK_uc003qbj.2_Missense_Mutation_p.L301F|PTPRK_uc010kfc.2_Missense_Mutation_p.L301F|PTPRK_uc011ebu.1_Missense_Mutation_p.L301F|PTPRK_uc003qbl.1_Missense_Mutation_p.L171F|PTPRK_uc011ebv.1_Missense_Mutation_p.L301F	p.L301F	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	7	1268	-			301			Fibronectin type-III 1.|Extracellular (Potential).		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.901C>T		.	.	.	.	.	.	.	.	.	.	G	19.78	3.891152	0.72524	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.64	5.64	0.86602	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.082667	0.51477	D	0.000096	T	0.70343	0.3213	M	0.78049	2.395	0.58432	D	0.999999	D;P;P;B;D;D	0.76494	0.999;0.529;0.474;0.331;0.993;0.991	D;B;B;B;D;P	0.72338	0.977;0.443;0.315;0.264;0.929;0.883	T	0.72802	-0.4183	10	0.66056	D	0.02	.	19.7145	0.96110	0.0:0.0:1.0:0.0	.	301;301;301;158;301;301	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	F	301;301;301;301;301;301;301;158	ENSP00000357209:L301F;ENSP00000357210:L301F;ENSP00000432973:L301F;ENSP00000357196:L301F;ENSP00000357193:L301F;ENSP00000357198:L301F;ENSP00000357190:L301F	ENSP00000357190:L301F	L	-	1	0	PTPRK	128547531	1.000000	0.71417	0.991000	0.47740	0.642000	0.38348	5.488000	0.66869	2.654000	0.90174	0.655000	0.94253	CTT		0.408	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1				11	23	0	0	0	0.003163	0	11	23		
CTGF	1490	broad.mit.edu	37	6	132271489	132271489	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:132271489C>T	ENST00000367976.3	-	3	684	c.484G>A	c.(484-486)Gag>Aag	p.E162K	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	162	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		ACCCACTCCTCGCAGCATTTC	0.652											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(127;510 1660 12817 24400 38449)	uc003qcz.2		NaN																	0					0						c.(484-486)GAG>AAG		connective tissue growth factor precursor							90.0	91.0	91.0					6																	132271489		2203	4300	6503	SO:0001583	missense	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132271489C>T	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.484G>A	6.37:g.132271489C>T	ENSP00000356954:p.Glu162Lys		OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1594		p.E162K	NM_001901	NP_001892	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	3	690	-	Breast(56;0.0602)		162			VWFC.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	c.484G>A	CCDS5151.1	.	.	.	.	.	.	.	.	.	.	C	37	5.984351	0.97173	.	.	ENSG00000118523	ENST00000367976	T	0.71579	-0.58	5.57	5.57	0.84162	von Willebrand factor, type C (4);	0.049682	0.85682	D	0.000000	T	0.80732	0.4679	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80946	-0.1155	10	0.59425	D	0.04	.	19.5503	0.95314	0.0:1.0:0.0:0.0	.	162	P29279	CTGF_HUMAN	K	162	ENSP00000356954:E162K	ENSP00000356954:E162K	E	-	1	0	CTGF	132313182	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.818000	0.86416	2.619000	0.88677	0.561000	0.74099	GAG		0.652	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2		NM_001901		35	213	0	0	0	0.005524	0	35	213		
TAAR8	83551	broad.mit.edu	37	6	132874133	132874133	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:132874133C>T	ENST00000275200.1	+	1	302	c.302C>T	c.(301-303)gCc>gTc	p.A101V		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	101					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TATTTTGGAGCCAAATTTTGT	0.468																																						uc011ecj.1		NaN																	0				ovary(1)	1						c.(301-303)GCC>GTC		trace amine associated receptor 8							193.0	170.0	178.0					6																	132874133		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874133C>T	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.302C>T	6.37:g.132874133C>T	ENSP00000275200:p.Ala101Val						p.A101V	NM_053278	NP_444508	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	302	+	Breast(56;0.112)		101			Extracellular (Potential).		Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.302C>T	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769529	0.31320	.	.	ENSG00000146385	ENST00000275200	T	0.72167	-0.63	4.62	-2.98	0.05513	GPCR, rhodopsin-like superfamily (1);	0.775582	0.11029	N	0.607517	T	0.44138	0.1279	L	0.42245	1.32	0.09310	N	1	B	0.16396	0.017	B	0.26614	0.071	T	0.55921	-0.8064	10	0.72032	D	0.01	-1.5018	11.9873	0.53155	0.7843:0.1243:0.0:0.0914	.	101	Q969N4	TAAR8_HUMAN	V	101	ENSP00000275200:A101V	ENSP00000275200:A101V	A	+	2	0	TAAR8	132915826	0.000000	0.05858	0.000000	0.03702	0.815000	0.46073	-1.418000	0.02462	-0.332000	0.08489	0.655000	0.94253	GCC		0.468	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1		NM_053278		9	55	0	0	0	0.004482	0	9	55		
CCDC28A	25901	broad.mit.edu	37	6	139101069	139101069	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:139101069G>C	ENST00000332797.6	+	3	694	c.539G>C	c.(538-540)aGa>aCa	p.R180T		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	180										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GAGATGGAGAGAGGGCTGCTC	0.443																																						uc003qie.2		NaN																	0					0						c.(538-540)AGA>ACA		coiled-coil domain containing 28A							114.0	107.0	109.0					6																	139101069		2203	4300	6503	SO:0001583	missense	25901							g.chr6:139101069G>C	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.539G>C	6.37:g.139101069G>C	ENSP00000332716:p.Arg180Thr						p.R180T	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	3	694	+			180					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.539G>C	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314330	0.60414	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	T	0.24350	1.86	5.96	5.1	0.69264	.	0.216044	0.47455	D	0.000226	T	0.22589	0.0545	L	0.38838	1.175	0.40881	D	0.983996	D	0.61697	0.99	P	0.62491	0.903	T	0.03807	-1.1002	10	0.41790	T	0.15	-18.2137	9.456	0.38756	0.2107:0.0:0.7893:0.0	.	180	Q8IWP9	CC28A_HUMAN	T	180;67	ENSP00000332716:R180T	ENSP00000026464:R67T	R	+	2	0	CCDC28A	139142762	1.000000	0.71417	0.990000	0.47175	0.970000	0.65996	3.562000	0.53777	1.529000	0.49120	0.655000	0.94253	AGA		0.443	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1		NM_015439		12	60	0	0	0	0.006122	0	12	60		
ECT2L	345930	broad.mit.edu	37	6	139186275	139186275	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:139186275C>T	ENST00000423192.1	+	11	1595	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Silent_p.F478F|ECT2L_ENST00000541398.1_Silent_p.F409F			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	478							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGTATCCTTTCTTCAAGGAAC	0.443			"""N, Splice, Mis"""		ETP ALL																																	uc003qif.1		NaN		Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					0					0						c.(1432-1434)TTC>TTT		epithelial cell transforming sequence 2							74.0	71.0	72.0					6																	139186275		1911	4118	6029	SO:0001819	synonymous_variant	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139186275C>T		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1434C>T	6.37:g.139186275C>T						ECT2L_uc011edq.1_Silent_p.F409F	p.F478F	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			10	1537	+			478					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	c.1434C>T	CCDS43508.1																																																																																				0.443	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3		NM_001077706		3	38	0	0	0	0.000602	0	3	38		
TXLNB	167838	broad.mit.edu	37	6	139564283	139564283	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:139564283C>G	ENST00000358430.3	-	10	1667	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	479						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		ACGTTTGACTCTGGCTCTTCA	0.433																																						uc011eds.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1435-1437)GAG>CAG		taxilin beta							125.0	126.0	126.0					6																	139564283		2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139564283C>G		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1435G>C	6.37:g.139564283C>G	ENSP00000351206:p.Glu479Gln						p.E479Q	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	10	1600	-			479					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.1435G>C	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033868	0.75504	.	.	ENSG00000164440	ENST00000358430	T	0.17854	2.25	5.82	5.82	0.92795	.	0.655695	0.16138	N	0.227850	T	0.05456	0.0144	L	0.29908	0.895	0.09310	N	1	P	0.34462	0.454	B	0.29663	0.105	T	0.23190	-1.0195	9	.	.	.	-2.8542	14.2855	0.66243	0.0:0.9269:0.0:0.0731	.	479	Q8N3L3	TXLNB_HUMAN	Q	479	ENSP00000351206:E479Q	.	E	-	1	0	TXLNB	139605976	0.082000	0.21442	0.059000	0.19551	0.971000	0.66376	2.586000	0.46119	2.756000	0.94617	0.655000	0.94253	GAG		0.433	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1		NM_153235		14	78	0	0	0	0.008871	0	14	78		
UTRN	7402	broad.mit.edu	37	6	144858794	144858794	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:144858794G>A	ENST00000367545.3	+	43	6310	c.6310G>A	c.(6310-6312)Gag>Aag	p.E2104K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2104					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACAAAGGCTGAGCATGCTAT	0.368																																						uc003qkt.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(6310-6312)GAG>AAG		utrophin							128.0	114.0	119.0					6																	144858794		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144858794G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.6310G>A	6.37:g.144858794G>A	ENSP00000356515:p.Glu2104Lys						p.E2104K	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	43	6402	+		Ovarian(120;0.218)	2104					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.6310G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878672	0.72294	.	.	ENSG00000152818	ENST00000367545	T	0.47177	0.85	4.89	4.89	0.63831	.	0.000000	0.50627	D	0.000117	T	0.26268	0.0641	L	0.36672	1.1	0.80722	D	1	B	0.32693	0.38	B	0.36335	0.222	T	0.07770	-1.0755	10	0.33940	T	0.23	.	12.3474	0.55128	0.0794:0.0:0.9206:0.0	.	2104	P46939	UTRO_HUMAN	K	2104	ENSP00000356515:E2104K	ENSP00000356515:E2104K	E	+	1	0	UTRN	144900487	1.000000	0.71417	0.074000	0.20217	0.398000	0.30690	3.921000	0.56454	2.632000	0.89209	0.655000	0.94253	GAG		0.368	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1				4	42	0	0	0	0.001168	0	4	42		
FBXO30	84085	broad.mit.edu	37	6	146127160	146127160	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:146127160C>G	ENST00000237281.4	-	2	548	c.382G>C	c.(382-384)Gac>Cac	p.D128H		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	128							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ATCCTTTGGTCTTGAAGAGCC	0.408																																						uc003qla.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(382-384)GAC>CAC		F-box only protein 30							187.0	181.0	183.0					6																	146127160		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146127160C>G	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.382G>C	6.37:g.146127160C>G	ENSP00000237281:p.Asp128His					uc003qky.1_Intron	p.D128H	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	581	-		Ovarian(120;0.0776)	128					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.382G>C	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560858	0.65538	.	.	ENSG00000118496	ENST00000237281	T	0.29397	1.57	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.53834	0.1821	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57768	-0.7754	10	0.87932	D	0	-16.329	19.7586	0.96304	0.0:1.0:0.0:0.0	.	128	Q8TB52	FBX30_HUMAN	H	128	ENSP00000237281:D128H	ENSP00000237281:D128H	D	-	1	0	FBXO30	146168853	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.663000	0.90544	0.585000	0.79938	GAC		0.408	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2				8	33	0	0	0	0.004482	0	8	33		
SYNE1	23345	broad.mit.edu	37	6	152651320	152651320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:152651320G>A	ENST00000367255.5	-	78	15101	c.14500C>T	c.(14500-14502)Cga>Tga	p.R4834*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R4763*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R4763*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R4581*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R4834*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4834					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGGTTACTCGTTTCAGTACA	0.498										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(14500-14502)CGA>TGA		spectrin repeat containing, nuclear envelope 1							111.0	92.0	98.0					6																	152651320		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651320G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14500C>T	6.37:g.152651320G>A	ENSP00000356224:p.Arg4834*	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Nonsense_Mutation_p.R4763*|SYNE1_uc003qou.3_Nonsense_Mutation_p.R4834*|SYNE1_uc010kiz.2_Nonsense_Mutation_p.R589*	p.R4834*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15102	-		Ovarian(120;0.0955)	4834			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.14500C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	56	26.116805	0.99967	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.93	3.96	0.45880	.	0.260319	0.27189	N	0.020510	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	16.89	0.86084	0.0:0.0:0.7563:0.2437	.	.	.	.	X	4834;4763;4834;4763;4581	.	ENSP00000265368:R4834X	R	-	1	2	SYNE1	152693013	0.231000	0.23751	0.567000	0.28434	0.027000	0.11550	2.250000	0.43178	1.491000	0.48482	0.591000	0.81541	CGA		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		9	39	0	0	0	0.001368	0	9	39		
SYNE1	23345	broad.mit.edu	37	6	152651534	152651534	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:152651534C>T	ENST00000367255.5	-	78	14887	c.14286G>A	c.(14284-14286)ctG>ctA	p.L4762L	SYNE1_ENST00000448038.1_Silent_p.L4691L|SYNE1_ENST00000423061.1_Silent_p.L4691L|SYNE1_ENST00000341594.5_Silent_p.L4509L|SYNE1_ENST00000265368.4_Silent_p.L4762L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4762					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGTCGCTTCAGCCTGTGAT	0.483										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(14284-14286)CTG>CTA		spectrin repeat containing, nuclear envelope 1							93.0	94.0	94.0					6																	152651534		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651534C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14286G>A	6.37:g.152651534C>T		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.L4691L|SYNE1_uc003qou.3_Silent_p.L4762L|SYNE1_uc010kiz.2_Silent_p.L517L	p.L4762L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14888	-		Ovarian(120;0.0955)	4762			Spectrin 14.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.14286G>A	CCDS5236.2																																																																																				0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		4	61	0	0	0	0.009096	0	4	61		
IGF2R	3482	broad.mit.edu	37	6	160477479	160477479	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:160477479C>G	ENST00000356956.1	+	20	2866	c.2718C>G	c.(2716-2718)ctC>ctG	p.L906L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	906					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TCTTTTCTCTCAACTGGGAGT	0.488																																						uc003qta.2		NaN																	0				ovary(3)	3						c.(2716-2718)CTC>CTG		insulin-like growth factor 2 receptor precursor							172.0	148.0	156.0					6																	160477479		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160477479C>G	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2718C>G	6.37:g.160477479C>G							p.L906L	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	20	2866	+		Breast(66;0.000777)|Ovarian(120;0.0305)	906			6.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.2718C>G	CCDS5273.1																																																																																				0.488	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1		NM_000876		19	137	0	0	0	0.012319	0	19	137		
IGF2R	3482	broad.mit.edu	37	6	160479137	160479137	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:160479137G>C	ENST00000356956.1	+	21	3027	c.2879G>C	c.(2878-2880)gGc>gCc	p.G960A		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	960					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AACGTCTCTGGCATTGGGAAG	0.418																																						uc003qta.2		NaN																	0				ovary(3)	3						c.(2878-2880)GGC>GCC		insulin-like growth factor 2 receptor precursor							144.0	133.0	137.0					6																	160479137		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160479137G>C	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2879G>C	6.37:g.160479137G>C	ENSP00000349437:p.Gly960Ala						p.G960A	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	21	3027	+		Breast(66;0.000777)|Ovarian(120;0.0305)	960			7.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.2879G>C	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	2.154	-0.393809	0.04899	.	.	ENSG00000197081	ENST00000356956	T	0.02032	4.49	5.65	2.8	0.32819	Mannose-6-phosphate receptor, binding (1);	0.594107	0.18610	N	0.136182	T	0.01061	0.0035	L	0.48260	1.515	0.29000	N	0.887558	B	0.09022	0.002	B	0.14023	0.01	T	0.43621	-0.9380	10	0.42905	T	0.14	-10.8587	13.1396	0.59428	0.064:0.2276:0.7084:0.0	.	960	P11717	MPRI_HUMAN	A	960	ENSP00000349437:G960A	ENSP00000349437:G960A	G	+	2	0	IGF2R	160399127	1.000000	0.71417	0.903000	0.35520	0.139000	0.21198	1.862000	0.39448	0.103000	0.17682	-0.797000	0.03246	GGC		0.418	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1		NM_000876		10	68	0	0	0	0.001368	0	10	68		
T	6862	broad.mit.edu	37	6	166580899	166580899	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:166580899C>G	ENST00000296946.2	-	2	649	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	T_ENST00000366871.3_Missense_Mutation_p.E61Q	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	61					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		ACGATCATCTCATTGGTGAGC	0.701									Chordoma, Familial Clustering of																													uc003quu.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(181-183)GAG>CAG		transcription factor T							53.0	43.0	46.0					6																	166580899		2203	4300	6503	SO:0001583	missense	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166580899C>G	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.181G>C	6.37:g.166580899C>G	ENSP00000296946:p.Glu61Gln					T_uc003qut.1_Missense_Mutation_p.E61Q|T_uc003quv.1_Missense_Mutation_p.E61Q	p.E61Q	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	2	674	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	61			T-box.		E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.181G>C	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021643	0.93462	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D;D	0.88431	-2.38;-2.38;-2.38	3.74	3.74	0.42951	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96929	0.8997	H	0.99609	4.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98507	1.0617	10	0.87932	D	0	.	14.8935	0.70627	0.0:1.0:0.0:0.0	.	61;61;61	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	Q	61	ENSP00000355841:E61Q;ENSP00000296946:E61Q;ENSP00000355836:E61Q	ENSP00000296946:E61Q	E	-	1	0	T	166500889	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.134000	0.77268	1.807000	0.52817	0.491000	0.48974	GAG		0.701	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2		NM_003181		8	77	0	0	0	0.010729	0	8	77		
ZFAND2A	90637	broad.mit.edu	37	7	1197336	1197336	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:1197336G>T	ENST00000316495.3	-	3	365	c.106C>A	c.(106-108)Cat>Aat	p.H36N	AC091729.9_ENST00000423008.1_RNA|ZFAND2A_ENST00000401903.1_Missense_Mutation_p.H36N|AC091729.9_ENST00000422230.1_RNA|ZFAND2A_ENST00000478137.1_5'Flank|AC091729.9_ENST00000413706.1_RNA	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	36					cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		TATGGAAAATGATCTTTACAG	0.358																																						uc003skc.2		NaN																	0				ovary(1)	1						c.(106-108)CAT>AAT		zinc finger, AN1-type domain 2A							218.0	226.0	223.0					7																	1197336		2203	4300	6503	SO:0001583	missense	90637					cytoplasm|nucleus	zinc ion binding	g.chr7:1197336G>T	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"""Zinc fingers, AN1-type domain containing"""	28073	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein"""	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.106C>A	7.37:g.1197336G>T	ENSP00000314619:p.His36Asn					ZFAND2A_uc003skd.3_Missense_Mutation_p.H36N|uc003skf.1_5'Flank	p.H36N	NM_182491	NP_872297	Q8N6M9	ZFN2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)	3	407	-		Ovarian(82;0.11)	36			AN1-type 1.		A4D220	Missense_Mutation	SNP	ENST00000316495.3	37	c.106C>A	CCDS5323.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058997	0.55325	.	.	ENSG00000178381	ENST00000401903;ENST00000397083;ENST00000316495	D;D;D	0.95918	-3.85;-3.85;-3.85	5.27	5.27	0.74061	Zinc finger, AN1-type (4);	0.000000	0.85682	D	0.000000	D	0.98676	0.9556	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99683	1.0999	10	0.87932	D	0	-22.1641	16.4002	0.83639	0.0:0.0:1.0:0.0	.	36;36	A8MYA3;Q8N6M9	.;ZFN2A_HUMAN	N	36	ENSP00000386031:H36N;ENSP00000380273:H36N;ENSP00000314619:H36N	ENSP00000314619:H36N	H	-	1	0	ZFAND2A	1163862	1.000000	0.71417	0.983000	0.44433	0.796000	0.44982	8.324000	0.90005	2.480000	0.83734	0.655000	0.94253	CAT		0.358	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2		NM_182491		25	276	1	0	1.55811e-20	0.008361	1.68276e-20	25	276		
INTS1	26173	broad.mit.edu	37	7	1515921	1515921	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:1515921C>G	ENST00000404767.3	-	38	5407	c.5322G>C	c.(5320-5322)gaG>gaC	p.E1774D	INTS1_ENST00000389470.4_Missense_Mutation_p.E1978D	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1774					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCTGACACTCTCATCGTCCC	0.692																																						uc003skn.2		NaN																	0					0						c.(5320-5322)GAG>GAC		integrator complex subunit 1							11.0	13.0	13.0					7																	1515921		2136	4242	6378	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1515921C>G	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5322G>C	7.37:g.1515921C>G	ENSP00000385722:p.Glu1774Asp					INTS1_uc003skm.1_5'Flank	p.E1774D	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	38	5423	-		Ovarian(82;0.0253)	1774					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.5322G>C	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	0.494	-0.873929	0.02570	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47869	0.87;0.83	5.12	-1.57	0.08506	.	0.205916	0.49916	N	0.000130	T	0.22781	0.0550	N	0.25647	0.755	0.18873	N	0.999981	B	0.06786	0.001	B	0.06405	0.002	T	0.10917	-1.0609	10	0.16420	T	0.52	.	1.4948	0.02464	0.1216:0.3698:0.2366:0.2719	.	1774	Q8N201	INT1_HUMAN	D	1774;1978	ENSP00000385722:E1774D;ENSP00000374121:E1978D	ENSP00000374121:E1978D	E	-	3	2	INTS1	1482447	0.112000	0.22096	0.000000	0.03702	0.004000	0.04260	0.514000	0.22786	-0.714000	0.04975	-0.291000	0.09656	GAG		0.692	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1				5	23	0	0	0	0.001984	0	5	23		
INTS1	26173	broad.mit.edu	37	7	1521036	1521036	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:1521036G>A	ENST00000404767.3	-	28	3877	c.3792C>T	c.(3790-3792)ttC>ttT	p.F1264F	INTS1_ENST00000389470.4_Silent_p.F1426F	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1264					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCTGGTCCAGGAACTGGAGGA	0.612																																						uc003skn.2		NaN																	0					0						c.(3790-3792)TTC>TTT		integrator complex subunit 1							54.0	66.0	62.0					7																	1521036		2129	4243	6372	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1521036G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3792C>T	7.37:g.1521036G>A							p.F1264F	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	28	3893	-		Ovarian(82;0.0253)	1264					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.3792C>T	CCDS47526.1																																																																																				0.612	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1				7	107	0	0	0	0.00308	0	7	107		
ACTB	60	broad.mit.edu	37	7	5569265	5569265	+	Silent	SNP	G	G	T	rs151181948		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:5569265G>T	ENST00000331789.5	-	2	215	c.24C>A	c.(22-24)ctC>ctA	p.L8L	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	8					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGTCGACGACGAGCGCGGCGA	0.721																																						uc003sos.3		NaN																	0					0						c.(22-24)CTC>CTA		beta actin							19.0	23.0	22.0					7																	5569265		2175	4232	6407	SO:0001819	synonymous_variant	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5569265G>T	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.24C>A	7.37:g.5569265G>T						ACTB_uc003sor.3_5'Flank|ACTB_uc003sot.3_Silent_p.L8L|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron|ACTB_uc011jwi.1_5'Flank	p.L8L	NM_001101	NP_001092	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	1	60	-		Ovarian(82;0.0606)	8					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000331789.5	37	c.24C>A	CCDS5341.1																																																																																				0.721	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4		NM_001101		20	125	1	0	1.75199e-13	0.007291	1.87032e-13	20	125		
FSCN1	6624	broad.mit.edu	37	7	5633134	5633134	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:5633134G>C	ENST00000382361.3	+	1	681	c.567G>C	c.(565-567)caG>caC	p.Q189H	FSCN1_ENST00000340250.6_Missense_Mutation_p.Q168H	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	189					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		ACAGCGTGCAGACCGCCGACC	0.741																																						uc003sou.2		NaN																	0				ovary(1)	1						c.(565-567)CAG>CAC		fascin 1							17.0	14.0	15.0					7																	5633134		2159	4218	6377	SO:0001583	missense	6624				actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	g.chr7:5633134G>C	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.567G>C	7.37:g.5633134G>C	ENSP00000371798:p.Gln189His						p.Q189H	NM_003088	NP_003079	Q16658	FSCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	1	681	+		Ovarian(82;0.0694)	189					A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	c.567G>C	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866410	0.32977	.	.	ENSG00000075618	ENST00000340250;ENST00000382361	T;T	0.42900	0.96;1.55	3.37	2.48	0.30137	Fascin domain (1);Actin cross-linking (1);	0.147024	0.46442	D	0.000299	T	0.49932	0.1586	L	0.47190	1.495	0.53688	D	0.999978	D	0.64830	0.994	D	0.67382	0.951	T	0.47573	-0.9107	10	0.87932	D	0	-0.314	6.4801	0.22057	0.2329:0.0:0.7671:0.0	.	189	Q16658	FSCN1_HUMAN	H	168;189	ENSP00000339729:Q168H;ENSP00000371798:Q189H	ENSP00000339729:Q168H	Q	+	3	2	FSCN1	5599660	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	1.763000	0.38461	0.630000	0.30394	0.462000	0.41574	CAG		0.741	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3		NM_003088		5	59	0	0	0	0.001984	0	5	59		
CCZ1	51622	broad.mit.edu	37	7	5949692	5949692	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:5949692G>C	ENST00000325974.6	+	8	791	c.725G>C	c.(724-726)aGa>aCa	p.R242T	CCZ1_ENST00000537980.1_Missense_Mutation_p.R99T	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	242						lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						GATGACATGAGAATTTTATAC	0.438																																						uc003spf.2		NaN																	0					0						c.(724-726)AGA>ACA		hypothetical protein LOC51622							150.0	125.0	134.0					7																	5949692		2200	4299	6499	SO:0001583	missense	51622					lysosomal membrane		g.chr7:5949692G>C	AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 28A"""	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.725G>C	7.37:g.5949692G>C	ENSP00000325681:p.Arg242Thr						p.R242T	NM_015622	NP_056437	P86791	CCZ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15)	8	815	+		Ovarian(82;0.0694)	242					A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	ENST00000325974.6	37	c.725G>C	CCDS34597.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274977	0.95459	.	.	ENSG00000122674	ENST00000325974;ENST00000537980	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.71542	0.3352	L	0.54323	1.7	0.80722	D	1	P	0.49961	0.93	P	0.55577	0.779	T	0.64089	-0.6489	9	0.25106	T	0.35	-21.3919	19.5894	0.95501	0.0:0.0:1.0:0.0	.	242	P86790	CCZ1L_HUMAN	T	242;99	.	ENSP00000325681:R242T	R	+	2	0	CCZ1	5916218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.892000	0.87324	2.878000	0.98634	0.650000	0.86243	AGA		0.438	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340391.1		NM_015622		8	32	0	0	0	0.010729	0	8	32		
USP42	84132	broad.mit.edu	37	7	6189333	6189333	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:6189333C>T	ENST00000306177.5	+	13	1664	c.1506C>T	c.(1504-1506)gtC>gtT	p.V502V		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	502					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAGCTTCTGTCCAAAACTGGT	0.453																																						uc011jwo.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)|breast(1)	5						c.(1504-1506)GTC>GTT		ubiquitin specific peptidase 42							123.0	117.0	119.0					7																	6189333		1910	4132	6042	SO:0001819	synonymous_variant	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6189333C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1506C>T	7.37:g.6189333C>T						USP42_uc010kth.1_Silent_p.V435V|USP42_uc011jwp.1_Silent_p.V502V|USP42_uc011jwq.1_Silent_p.V309V|USP42_uc011jwr.1_Silent_p.V347V	p.V502V	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	13	1629	+		Ovarian(82;0.0423)	502					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	c.1506C>T	CCDS47535.1																																																																																				0.453	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3		XM_166526		10	113	0	0	0	0.008291	0	10	113		
ZDHHC4	55146	broad.mit.edu	37	7	6624735	6624735	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:6624735C>A	ENST00000396706.2	+	7	1028	c.585C>A	c.(583-585)ctC>ctA	p.L195L	ZDHHC4_ENST00000335965.6_Silent_p.L195L|ZDHHC4_ENST00000396709.1_Silent_p.L195L|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Silent_p.L195L|ZDHHC4_ENST00000405731.3_Silent_p.L195L|ZDHHC4_ENST00000396713.2_Silent_p.L195L			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	195						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GGTACTTCCTCATCTACGTCT	0.527																																						uc003sqi.2		NaN																	0				breast(1)|pancreas(1)	2						c.(583-585)CTC>CTA		zinc finger, DHHC-type containing 4							204.0	132.0	156.0					7																	6624735		2203	4300	6503	SO:0001819	synonymous_variant	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6624735C>A	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.585C>A	7.37:g.6624735C>A						ZDHHC4_uc003sql.2_Silent_p.L195L|ZDHHC4_uc003sqh.2_Silent_p.L195L|ZDHHC4_uc003sqj.2_Silent_p.L195L|ZDHHC4_uc003sqk.2_Silent_p.L195L|ZDHHC4_uc003sqm.2_Silent_p.L195L	p.L195L	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	8	943	+		Ovarian(82;0.232)	195			DHHC-type.|Helical; (Potential).		A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Silent	SNP	ENST00000396706.2	37	c.585C>A	CCDS5352.1																																																																																				0.527	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3		NM_018106		20	81	1	0	2.44723e-14	0.004656	2.61684e-14	20	81		
ZNF12	7559	broad.mit.edu	37	7	6730899	6730899	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:6730899G>A	ENST00000405858.1	-	5	2215	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Silent_p.F520F|ZNF12_ENST00000404360.1_Silent_p.F484F	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	558					negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		ACATCTGAGAGAAGAATTTTC	0.413																																						uc003sqt.1		NaN																	0					0						c.(1672-1674)TTC>TTT		zinc finger protein 12 isoform a							44.0	48.0	47.0					7																	6730899		2145	4280	6425	SO:0001819	synonymous_variant	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6730899G>A	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1674C>T	7.37:g.6730899G>A						ZNF12_uc011jxa.1_Silent_p.F396F|ZNF12_uc003sqs.1_Silent_p.F520F	p.F558F	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	2228	-		Ovarian(82;0.0776)	558			C2H2-type 11.		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Silent	SNP	ENST00000405858.1	37	c.1674C>T	CCDS47538.1																																																																																				0.413	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2		NM_016265		3	28	0	0	0	0.004672	0	3	28		
ZNF12	7559	broad.mit.edu	37	7	6732258	6732258	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:6732258G>A	ENST00000405858.1	-	5	856	c.315C>T	c.(313-315)ttC>ttT	p.F105F	AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Silent_p.F105F|ZNF12_ENST00000404360.1_Silent_p.F69F	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	105					negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGGTCTCAATGAACACAGTTT	0.363																																						uc003sqt.1		NaN																	0					0						c.(313-315)TTC>TTT		zinc finger protein 12 isoform a							162.0	160.0	161.0					7																	6732258		1837	4096	5933	SO:0001819	synonymous_variant	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6732258G>A	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.315C>T	7.37:g.6732258G>A						ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Silent_p.F105F	p.F105F	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	869	-		Ovarian(82;0.0776)	105					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Silent	SNP	ENST00000405858.1	37	c.315C>T	CCDS47538.1																																																																																				0.363	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2		NM_016265		16	125	0	0	0	0.006122	0	16	125		
CCZ1B	221960	broad.mit.edu	37	7	6854450	6854450	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:6854450C>G	ENST00000316731.8	-	8	1297	c.725G>C	c.(724-726)aGa>aCa	p.R242T	CCZ1B_ENST00000538180.1_Missense_Mutation_p.R99T	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	242						lysosome (GO:0005764)|membrane (GO:0016020)											GTATAAAATTCTCATGTCATC	0.438																																						uc003sqx.1		NaN																	0					0						c.(724-726)AGA>ACA		hypothetical protein LOC221960							208.0	188.0	195.0					7																	6854450		2201	4300	6501	SO:0001583	missense	221960					lysosomal membrane		g.chr7:6854450C>G	BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"""similar to CGI-43 protein"""		"""chromosome 7 open reading frame 28B"""	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.725G>C	7.37:g.6854450C>G	ENSP00000314544:p.Arg242Thr					C7orf28B_uc011jxd.1_Missense_Mutation_p.R99T	p.R242T	NM_198097	NP_932765	P86791	CCZ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)	8	758	-		Ovarian(82;0.232)	242					A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	ENST00000316731.8	37	c.725G>C	CCDS5354.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933459	0.52866	.	.	ENSG00000146574	ENST00000316731;ENST00000538180	.	.	.	2.35	2.35	0.29111	.	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	T	0.49588	-0.8924	6	0.25106	T	0.35	-21.3919	10.4115	0.44296	0.0:1.0:0.0:0.0	.	.	.	.	T	242;99	.	ENSP00000314544:R242T	R	-	2	0	C7orf28B	6820975	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	5.540000	0.67205	1.314000	0.45095	0.186000	0.17326	AGA		0.438	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246858.1		NM_198097		17	201	0	0	0	0.002299	0	17	201		
ICA1	3382	broad.mit.edu	37	7	8198207	8198207	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:8198207G>A	ENST00000402384.3	-	7	921	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F	ICA1_ENST00000422063.2_Missense_Mutation_p.L219F|ICA1_ENST00000396675.3_Missense_Mutation_p.L219F|ICA1_ENST00000406470.2_Missense_Mutation_p.L219F|ICA1_ENST00000265577.7_Missense_Mutation_p.L218F|ICA1_ENST00000407906.1_Missense_Mutation_p.L219F|ICA1_ENST00000401396.1_Missense_Mutation_p.L207F			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	219	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CTCGCTCCAAGAAGATCCACT	0.373																																						uc003srm.2		NaN																	0				central_nervous_system(1)	1						c.(655-657)CTT>TTT		islet cell autoantigen 1							159.0	139.0	146.0					7																	8198207		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8198207G>A		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.655C>T	7.37:g.8198207G>A	ENSP00000385570:p.Leu219Phe					ICA1_uc010ktr.2_Missense_Mutation_p.L219F|ICA1_uc003srl.2_Missense_Mutation_p.L207F|ICA1_uc003srn.3_Missense_Mutation_p.L145F|ICA1_uc003srp.3_Missense_Mutation_p.L218F|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.L219F|ICA1_uc003srr.2_Missense_Mutation_p.L218F|ICA1_uc003sro.3_Missense_Mutation_p.L219F|ICA1_uc011jxg.1_Missense_Mutation_p.L219F|ICA1_uc003srs.1_Missense_Mutation_p.L219F	p.L219F	NM_022307	NP_071682	Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	7	722	-		Ovarian(82;0.0612)	219			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.655C>T	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164611	0.78339	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063;ENST00000407906;ENST00000317367	D;D;D;D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89	5.09	4.21	0.49690	Arfaptin-like (3);	0.062130	0.64402	D	0.000003	D	0.95884	0.8660	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.993;0.998;0.999;0.997;0.999	D	0.96183	0.9132	10	0.87932	D	0	-11.4873	12.0843	0.53688	0.144:0.0:0.856:0.0	.	219;219;218;207;219;207	B3FTQ2;E7ENI6;Q96HG3;B9ZVM7;Q05084;E9PDL4	.;.;.;.;ICA69_HUMAN;.	F	219;219;218;219;207;219;219;207	ENSP00000385570:L219F;ENSP00000385651:L219F;ENSP00000265577:L218F;ENSP00000379908:L219F;ENSP00000385305:L207F;ENSP00000403982:L219F;ENSP00000386021:L219F;ENSP00000316074:L207F	ENSP00000265577:L218F	L	-	1	0	ICA1	8164732	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.387000	0.66243	1.533000	0.49186	0.561000	0.74099	CTT		0.373	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1		NM_004968		4	58	0	0	0	0.009096	0	4	58		
IL6	3569	broad.mit.edu	37	7	22771127	22771127	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:22771127C>T	ENST00000404625.1	+	6	1033	c.574C>T	c.(574-576)Cat>Tat	p.H192Y	IL6_ENST00000258743.5_Missense_Mutation_p.H192Y|IL6_ENST00000401630.3_Missense_Mutation_p.H169Y|IL6_ENST00000407492.1_Missense_Mutation_p.H116Y			P05231	IL6_HUMAN	interleukin 6	192					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	CATGACAACTCATCTCATTCT	0.512																																					Esophageal Squamous(47;342 1214 13936 33513)	uc011jyn.1		NaN																	0					0						c.(574-576)CAT>TAT		interleukin 6 precursor	Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)						80.0	69.0	72.0					7																	22771127		2203	4300	6503	SO:0001583	missense	3569				acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding	g.chr7:22771127C>T	M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"""Interleukins and interleukin receptors"", ""Interferons"""	6018	protein-coding gene	gene with protein product	"""interferon, beta 2"""	147620	"""interleukin 6 (interferon, beta 2)"""	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.574C>T	7.37:g.22771127C>T	ENSP00000385675:p.His192Tyr					IL6_uc003svj.3_Missense_Mutation_p.H192Y	p.H192Y	NM_000600	NP_000591	P05231	IL6_HUMAN			6	1033	+			192					Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	c.574C>T	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505177	0.44558	.	.	ENSG00000136244	ENST00000404625;ENST00000258743;ENST00000407492;ENST00000401630	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.86	0.594	0.17485	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.635526	0.17751	N	0.163241	T	0.36908	0.0984	L	0.41492	1.28	0.09310	N	0.999997	D	0.76494	0.999	D	0.68765	0.96	T	0.13656	-1.0501	10	0.62326	D	0.03	.	4.2536	0.10707	0.4693:0.3362:0.1171:0.0774	.	192	P05231	IL6_HUMAN	Y	192;192;116;169	ENSP00000385675:H192Y;ENSP00000258743:H192Y;ENSP00000385043:H116Y;ENSP00000384928:H169Y	ENSP00000258743:H192Y	H	+	1	0	IL6	22737652	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.022000	0.12480	-0.092000	0.12417	-0.175000	0.13238	CAT		0.512	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2		NM_000600		5	50	0	0	0	0.000602	0	5	50		
TAX1BP1	8887	broad.mit.edu	37	7	27856100	27856100	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:27856100C>G	ENST00000396319.2	+	14	1985	c.1897C>G	c.(1897-1899)Ctg>Gtg	p.L633V	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.L657V|TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000543117.1_Intron	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	633					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ACAACCAGTTCTGCAATATGG	0.363																																						uc003szl.2		NaN																	0				breast(1)	1						c.(1897-1899)CTG>GTG		Tax1 (human T-cell leukemia virus type I)							156.0	151.0	152.0					7																	27856100		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27856100C>G	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1897C>G	7.37:g.27856100C>G	ENSP00000379612:p.Leu633Val					TAX1BP1_uc011jzo.1_Intron|TAX1BP1_uc003szk.2_Intron|TAX1BP1_uc011jzp.1_Intron	p.L633V	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		14	2055	+			633					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.1897C>G	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721856	0.68959	.	.	ENSG00000106052	ENST00000409980;ENST00000396319	T;T	0.20738	2.58;2.05	5.84	5.84	0.93424	.	0.000000	0.40640	N	0.001045	T	0.45816	0.1361	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.20605	-1.0270	9	.	.	.	-8.2532	15.2402	0.73465	0.0:0.9312:0.0:0.0688	.	633	Q86VP1	TAXB1_HUMAN	V	657;633	ENSP00000386515:L657V;ENSP00000379612:L633V	.	L	+	1	2	TAX1BP1	27822625	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.149000	0.42244	2.765000	0.95021	0.655000	0.94253	CTG		0.363	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1		NM_006024		20	91	0	0	0	0.00333	0	20	91		
AC005013.5	0	broad.mit.edu	37	7	28996953	28996953	+	lincRNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:28996953G>A	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							GTTGTTGGCCGAGAGGATGAG	0.677																																						uc003szt.2		NaN																	0					0						c.(709-711)TCG>TTG		TLR4 interactor with leucine rich repeats							28.0	35.0	33.0					7																	28996953		2172	4275	6447			9865				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding	g.chr7:28996953G>A																													7.37:g.28996953G>A						uc003szu.1_5'Flank	p.S237L	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN			3	1077	-			237			Extracellular (Potential).|LRR 8.			Missense_Mutation	SNP	ENST00000436594.1	37	c.710C>T																																																																																					0.677	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3				17	148	0	0	0	0.006122	0	17	148		
NOD1	10392	broad.mit.edu	37	7	30492526	30492526	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:30492526G>A	ENST00000222823.4	-	6	1032	c.507C>T	c.(505-507)ttC>ttT	p.F169F	NOD1_ENST00000423334.2_Silent_p.F169F	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	169					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCTCATTGCTGAAGCCAACCA	0.587																																						uc003tav.2		NaN																	0				ovary(1)|skin(1)	2						c.(505-507)TTC>TTT		nucleotide-binding oligomerization domain							123.0	101.0	109.0					7																	30492526		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30492526G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.507C>T	7.37:g.30492526G>A						NOD1_uc010kvs.2_Silent_p.F169F	p.F169F	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			6	1030	-			169					B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.507C>T	CCDS5427.1																																																																																				0.587	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2				18	169	0	0	0	0.002299	0	18	169		
BBS9	27241	broad.mit.edu	37	7	33392470	33392470	+	Splice_Site	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:33392470G>C	ENST00000242067.6	+	15	2058		c.e15-1		BBS9_ENST00000354265.4_Intron|BBS9_ENST00000396127.2_Splice_Site|BBS9_ENST00000355070.2_Intron|BBS9_ENST00000350941.3_Intron	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9						cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTGATGGACAGATCGAAATCC	0.323									Bardet-Biedl syndrome																													uc003tdn.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.e15-1		parathyroid hormone-responsive B1 isoform 2							114.0	102.0	106.0					7																	33392470		1821	4090	5911	SO:0001630	splice_region_variant	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33392470G>C		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1538-1G>C	7.37:g.33392470G>C						BBS9_uc003tdo.1_Splice_Site_p.N478_splice|BBS9_uc003tdp.1_Intron|BBS9_uc003tdq.1_Intron|BBS9_uc010kwn.1_Splice_Site|BBS9_uc003tdr.1_Splice_Site_p.D37_splice|BBS9_uc003tds.1_Splice_Site|BBS9_uc011kao.1_Splice_Site_p.D391_splice	p.D513_splice	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		15	2051	+								E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Splice_Site	SNP	ENST00000242067.6	37	c.1538_splice	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171276	0.38315	.	.	ENSG00000122507	ENST00000242067;ENST00000396127;ENST00000537775;ENST00000434373	.	.	.	3.77	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2992	0.49295	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BBS9	33358995	1.000000	0.71417	0.998000	0.56505	0.694000	0.40290	2.968000	0.49224	2.120000	0.65058	0.655000	0.94253	.		0.323	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			Intron	11	48	0	0	0	0.001855	0	11	48		
HERPUD2	64224	broad.mit.edu	37	7	35674914	35674914	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:35674914G>C	ENST00000396081.1	-	6	1576	c.772C>G	c.(772-774)Caa>Gaa	p.Q258E	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.Q258E	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	258					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						GCATTCATTTGAACATTCTCA	0.468																																						uc003tet.2		NaN																	0				ovary(3)	3						c.(772-774)CAA>GAA		HERPUD family member 2							228.0	219.0	222.0					7																	35674914		2203	4300	6503	SO:0001583	missense	64224				response to unfolded protein	integral to membrane		g.chr7:35674914G>C	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.772C>G	7.37:g.35674914G>C	ENSP00000379390:p.Gln258Glu					HERPUD2_uc003tes.3_Missense_Mutation_p.Q258E	p.Q258E	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN			6	1577	-			258					A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	c.772C>G	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.732795	0.69189	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	T;T	0.20463	2.07;2.07	5.96	5.05	0.67936	.	0.212783	0.50627	D	0.000107	T	0.17408	0.0418	L	0.46157	1.445	0.54753	D	0.999988	P	0.35745	0.518	B	0.31946	0.138	T	0.02805	-1.1108	10	0.07030	T	0.85	-31.5123	16.5919	0.84767	0.0:0.0:0.8692:0.1308	.	258	Q9BSE4	HERP2_HUMAN	E	258	ENSP00000379390:Q258E;ENSP00000310729:Q258E	ENSP00000310729:Q258E	Q	-	1	0	HERPUD2	35641439	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.992000	0.88273	2.832000	0.97577	0.655000	0.94253	CAA		0.468	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1		NM_022373		24	170	0	0	0	0.005443	0	24	170		
GCK	2645	broad.mit.edu	37	7	44193018	44193018	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:44193018C>T	ENST00000403799.3	-	2	559	c.90G>A	c.(88-90)ctG>ctA	p.L30L	GCK_ENST00000437084.1_Silent_p.L30L|GCK_ENST00000345378.2_Silent_p.L31L|GCK_ENST00000476008.1_5'UTR|GCK_ENST00000395796.3_Silent_p.L29L	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	30	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCACCTTCTTCAGGTCCTCCT	0.632																																						uc003tkl.2		NaN																	0				skin(3)|lung(1)	4						c.(88-90)CTG>CTA		glucokinase isoform 1							229.0	202.0	211.0					7																	44193018		2203	4300	6503	SO:0001819	synonymous_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44193018C>T	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.90G>A	7.37:g.44193018C>T						GCK_uc003tkj.1_Silent_p.L29L|GCK_uc003tkk.1_Silent_p.L31L	p.L30L	NM_000162	NP_000153	P35557	HXK4_HUMAN			2	560	-			30					A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	c.90G>A	CCDS5479.1																																																																																				0.632	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2				54	480	0	0	0	0.00361	0	54	480		
CAMK2B	816	broad.mit.edu	37	7	44259671	44259671	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:44259671G>A	ENST00000395749.2	-	23	2067	c.1991C>T	c.(1990-1992)cCg>cTg	p.P664L	CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000395747.2_Missense_Mutation_p.P516L|CAMK2B_ENST00000440254.2_Missense_Mutation_p.P540L|CAMK2B_ENST00000350811.3_Missense_Mutation_p.P540L|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000258682.6_Missense_Mutation_p.P515L|CAMK2B_ENST00000457475.1_Missense_Mutation_p.P516L|CAMK2B_ENST00000358707.3_Missense_Mutation_p.P501L|CAMK2B_ENST00000346990.4_Missense_Mutation_p.P447L|CAMK2B_ENST00000353625.4_Missense_Mutation_p.P477L|CAMK2B_ENST00000347193.4_Missense_Mutation_p.P490L	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	664					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TCACTGCAGCGGGGCCACAGG	0.692																																						uc003tkq.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1990-1992)CCG>CTG		calcium/calmodulin-dependent protein kinase II							18.0	18.0	18.0					7																	44259671		2200	4295	6495	SO:0001583	missense	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44259671G>A	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1991C>T	7.37:g.44259671G>A	ENSP00000379098:p.Pro664Leu					CAMK2B_uc003tkp.2_Missense_Mutation_p.P540L|CAMK2B_uc003tkx.2_Missense_Mutation_p.P500L|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.P516L|CAMK2B_uc003tks.2_Missense_Mutation_p.P515L|CAMK2B_uc003tku.2_Missense_Mutation_p.P501L|CAMK2B_uc003tkv.2_Missense_Mutation_p.P477L|CAMK2B_uc003tkt.2_Missense_Mutation_p.P490L|CAMK2B_uc003tkw.2_Missense_Mutation_p.P447L|CAMK2B_uc010kyc.2_Missense_Mutation_p.P540L|CAMK2B_uc003tkn.2_Missense_Mutation_p.P297L	p.P664L	NM_001220	NP_001211	Q13554	KCC2B_HUMAN			23	2201	-			664					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	ENST00000395749.2	37	c.1991C>T	CCDS5483.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.024166	0.93462	.	.	ENSG00000058404	ENST00000350811;ENST00000457475;ENST00000395749;ENST00000425809;ENST00000440254;ENST00000358707;ENST00000353625;ENST00000347193;ENST00000346990;ENST00000258682;ENST00000395747	T;T;T;T;T;T;T;T;T;T;T	0.79845	-0.67;-0.66;-1.31;0.21;-0.67;-0.74;-0.46;-0.63;-0.71;-0.65;-0.66	4.32	4.32	0.51571	.	.	.	.	.	D	0.86686	0.5992	L	0.50919	1.6	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.998;1.0;1.0;1.0;0.997;0.995;1.0;0.999;1.0;0.999	D	0.88311	0.2956	9	0.87932	D	0	.	15.7149	0.77661	0.0:0.0:1.0:0.0	.	515;447;477;501;490;515;516;664;540;664	Q13554-8;Q13554-7;Q13554-4;Q13554-3;Q13554-6;A4D2K5;Q13554-5;Q13554;Q13554-2;A4D2J9	.;.;.;.;.;.;.;KCC2B_HUMAN;.;.	L	540;516;664;182;540;501;477;490;447;515;516	ENSP00000326375:P540L;ENSP00000390292:P516L;ENSP00000379098:P664L;ENSP00000410445:P182L;ENSP00000397937:P540L;ENSP00000351542:P501L;ENSP00000326427:P477L;ENSP00000326544:P490L;ENSP00000326518:P447L;ENSP00000258682:P515L;ENSP00000379096:P516L	ENSP00000258682:P515L	P	-	2	0	CAMK2B	44226196	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.418000	0.44662	2.248000	0.74166	0.462000	0.41574	CCG		0.692	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2		NM_172084		4	19	0	0	0	0.000602	0	4	19		
CAMK2B	816	broad.mit.edu	37	7	44281927	44281927	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:44281927C>T	ENST00000395749.2	-	10	785	c.709G>A	c.(709-711)Gag>Aag	p.E237K	CAMK2B_ENST00000502837.2_Missense_Mutation_p.E108K|CAMK2B_ENST00000395747.2_Missense_Mutation_p.E237K|CAMK2B_ENST00000440254.2_Missense_Mutation_p.E237K|CAMK2B_ENST00000350811.3_Missense_Mutation_p.E237K|CAMK2B_ENST00000258682.6_Missense_Mutation_p.E237K|CAMK2B_ENST00000457475.1_Missense_Mutation_p.E237K|CAMK2B_ENST00000358707.3_Missense_Mutation_p.E237K|CAMK2B_ENST00000346990.4_Missense_Mutation_p.E237K|CAMK2B_ENST00000353625.4_Missense_Mutation_p.E237K|CAMK2B_ENST00000347193.4_Missense_Mutation_p.E237K	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GTGTCCCACTCAGGGGACGGG	0.607																																						uc003tkq.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(709-711)GAG>AAG		calcium/calmodulin-dependent protein kinase II							129.0	125.0	126.0					7																	44281927		2203	4300	6503	SO:0001583	missense	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44281927C>T	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.709G>A	7.37:g.44281927C>T	ENSP00000379098:p.Glu237Lys					CAMK2B_uc003tkp.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkx.2_Missense_Mutation_p.E237K|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.E237K|CAMK2B_uc003tks.2_Missense_Mutation_p.E237K|CAMK2B_uc003tku.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkv.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkt.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkw.2_Missense_Mutation_p.E237K|CAMK2B_uc010kyc.2_Missense_Mutation_p.E237K	p.E237K	NM_001220	NP_001211	Q13554	KCC2B_HUMAN			10	919	-			237			Protein kinase.		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	ENST00000395749.2	37	c.709G>A	CCDS5483.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683183	0.88542	.	.	ENSG00000058404	ENST00000350811;ENST00000457475;ENST00000395749;ENST00000502837;ENST00000440254;ENST00000358707;ENST00000353625;ENST00000347193;ENST00000346990;ENST00000258682;ENST00000395747	T;T;T;T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	4.39	4.39	0.52855	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.44265	0.1285	L	0.42487	1.325	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.988;0.992;0.969;0.999;0.995;0.993;0.993;0.998;1.0	T	0.43589	-0.9382	9	0.72032	D	0.01	.	16.7614	0.85513	0.0:1.0:0.0:0.0	.	237;237;237;237;237;237;237;237;237	Q13554-8;Q13554-7;Q13554-4;Q13554-3;Q13554-6;A4D2K5;Q13554-5;Q13554;Q13554-2	.;.;.;.;.;.;.;KCC2B_HUMAN;.	K	237;237;237;108;237;237;237;237;237;237;237	ENSP00000326375:E237K;ENSP00000390292:E237K;ENSP00000379098:E237K;ENSP00000422416:E108K;ENSP00000397937:E237K;ENSP00000351542:E237K;ENSP00000326427:E237K;ENSP00000326544:E237K;ENSP00000326518:E237K;ENSP00000258682:E237K;ENSP00000379096:E237K	ENSP00000258682:E237K	E	-	1	0	CAMK2B	44248452	1.000000	0.71417	0.968000	0.41197	0.447000	0.32167	5.775000	0.68915	2.277000	0.76020	0.563000	0.77884	GAG		0.607	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2		NM_172084		16	127	0	0	0	0.006122	0	16	127		
ABCA13	154664	broad.mit.edu	37	7	48311969	48311969	+	Silent	SNP	C	C	G	rs267601527		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:48311969C>G	ENST00000435803.1	+	17	2730	c.2706C>G	c.(2704-2706)ctC>ctG	p.L902L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	902					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAACTAGTCTCCATGAATTTG	0.393																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(2704-2706)CTC>CTG		ATP binding cassette, sub-family A (ABC1),							90.0	90.0	90.0					7																	48311969		1859	4096	5955	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48311969C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2706C>G	7.37:g.48311969C>G						ABCA13_uc010kyr.2_Silent_p.L405L	p.L902L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	2731	+			902					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.2706C>G	CCDS47584.1																																																																																				0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		10	33	0	0	0	0.008291	0	10	33		
ABCA13	154664	broad.mit.edu	37	7	48318381	48318381	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:48318381G>C	ENST00000435803.1	+	18	7614	c.7590G>C	c.(7588-7590)aaG>aaC	p.K2530N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2530					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCTGGTCAAGAAAGTTTCGG	0.413																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(7588-7590)AAG>AAC		ATP binding cassette, sub-family A (ABC1),							150.0	152.0	151.0					7																	48318381		1852	4098	5950	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318381G>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7590G>C	7.37:g.48318381G>C	ENSP00000411096:p.Lys2530Asn					ABCA13_uc010kys.1_5'Flank	p.K2530N	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	7615	+			2530					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7590G>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726057	0.30593	.	.	ENSG00000179869	ENST00000435803	T	0.60424	0.19	4.87	1.99	0.26369	.	0.126644	0.35235	N	0.003359	T	0.41351	0.1155	L	0.29908	0.895	0.09310	N	1	B	0.23058	0.079	B	0.26614	0.071	T	0.39603	-0.9606	10	0.87932	D	0	.	6.0428	0.19744	0.3216:0.0:0.6784:0.0	.	2530	Q86UQ4	ABCAD_HUMAN	N	2530	ENSP00000411096:K2530N	ENSP00000411096:K2530N	K	+	3	2	ABCA13	48288927	0.002000	0.14202	0.010000	0.14722	0.034000	0.12701	0.589000	0.23939	1.032000	0.39892	0.655000	0.94253	AAG		0.413	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		41	113	0	0	0	0.00361	0	41	113		
HIP1	3092	broad.mit.edu	37	7	75172284	75172284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:75172284C>T	ENST00000336926.6	-	28	2802	c.2776G>A	c.(2776-2778)Gat>Aat	p.D926N	HIP1_ENST00000434438.2_Missense_Mutation_p.D875N	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	926	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGTCCTTATCAGCTTTCACC	0.507			T	PDGFRB	CMML																																	uc003uds.1		NaN		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(2776-2778)GAT>AAT		huntingtin interacting protein 1							85.0	76.0	79.0					7																	75172284		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75172284C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2776G>A	7.37:g.75172284C>T	ENSP00000336747:p.Asp926Asn					HIP1_uc011kfz.1_Missense_Mutation_p.D752N	p.D926N	NM_005338	NP_005329	O00291	HIP1_HUMAN			28	2817	-			926			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.2776G>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874827	0.51695	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.30448	1.53;1.53	5.19	3.36	0.38483	I/LWEQ (4);	0.326793	0.35677	N	0.003048	T	0.20618	0.0496	L	0.31804	0.96	0.40284	D	0.978423	B;B	0.09022	0.002;0.002	B;B	0.18263	0.012;0.021	T	0.06285	-1.0835	10	0.21540	T	0.41	-10.3593	9.7117	0.40249	0.0:0.8282:0.0:0.1718	.	875;926	E7ES17;O00291	.;HIP1_HUMAN	N	926;875	ENSP00000336747:D926N;ENSP00000410300:D875N	ENSP00000336747:D926N	D	-	1	0	HIP1	75010220	0.991000	0.36638	0.985000	0.45067	0.962000	0.63368	3.087000	0.50167	0.560000	0.29169	0.563000	0.77884	GAT		0.507	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2		NM_005338		12	78	0	0	0	0.004007	0	12	78		
HIP1	3092	broad.mit.edu	37	7	75172291	75172291	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:75172291C>T	ENST00000336926.6	-	28	2795	c.2769G>A	c.(2767-2769)gtG>gtA	p.V923V	HIP1_ENST00000434438.2_Silent_p.V872V	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	923	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.|Important for actin binding. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TATCAGCTTTCACCTACCAGG	0.522			T	PDGFRB	CMML																																	uc003uds.1		NaN		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(2767-2769)GTG>GTA		huntingtin interacting protein 1							84.0	75.0	78.0					7																	75172291		2203	4300	6503	SO:0001819	synonymous_variant	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75172291C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2769G>A	7.37:g.75172291C>T						HIP1_uc011kfz.1_Silent_p.V749V	p.V923V	NM_005338	NP_005329	O00291	HIP1_HUMAN			28	2810	-			923			Important for actin binding (By similarity).|I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	c.2769G>A	CCDS34669.1																																																																																				0.522	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2		NM_005338		10	79	0	0	0	0.00245	0	10	79		
SSC4D	136853	broad.mit.edu	37	7	76027118	76027118	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:76027118C>T	ENST00000275560.3	-	6	932	c.585G>A	c.(583-585)gcG>gcA	p.A195A	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GACACAGGTTCGCGCCCCCTA	0.706																																						uc003ufb.2		NaN																	0				pancreas(1)	1						c.(583-585)GCG>GCA		scavenger receptor cysteine rich domain							16.0	14.0	14.0					7																	76027118		2175	4258	6433	SO:0001819	synonymous_variant	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76027118C>T																												ENST00000275560.3:c.585G>A	7.37:g.76027118C>T						ZP3_uc003ufc.3_Intron	p.A195A	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN			6	933	-			195			SRCR 2.			Silent	SNP	ENST00000275560.3	37	c.585G>A	CCDS5585.1																																																																																				0.706	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3				4	30	0	0	0	0.000602	0	4	30		
AKAP9	10142	broad.mit.edu	37	7	91631200	91631200	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:91631200G>C	ENST00000359028.2	+	9	2230	c.2005G>C	c.(2005-2007)Gat>Cat	p.D669H	AKAP9_ENST00000356239.3_Missense_Mutation_p.D657H|AKAP9_ENST00000358100.2_Missense_Mutation_p.D669H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	669	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAACTTAAAGATAATTTAGG	0.323			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(1969-1971)GAT>CAT		A-kinase anchor protein 9 isoform 2							42.0	47.0	45.0					7																	91631200		2200	4290	6490	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91631200G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2005G>C	7.37:g.91631200G>C	ENSP00000351922:p.Asp669His					AKAP9_uc003ule.2_Missense_Mutation_p.D669H|AKAP9_uc003ulf.2_Missense_Mutation_p.D657H|AKAP9_uc003uli.2_Missense_Mutation_p.D282H	p.D657H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	2194	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		669			Glu-rich.|Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.1969G>C		.	.	.	.	.	.	.	.	.	.	G	10.35	1.325418	0.24080	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.43294	0.95;0.95;0.95	5.49	5.49	0.81192	.	0.336297	0.21696	N	0.070483	T	0.50684	0.1630	L	0.27053	0.805	0.39545	D	0.968873	P;P;B;D	0.76494	0.8;0.874;0.033;0.999	P;P;B;D	0.65773	0.467;0.667;0.059;0.938	T	0.53760	-0.8393	10	0.72032	D	0.01	.	15.2196	0.73299	0.0:0.2574:0.7426:0.0	.	669;657;657;669	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	H	657;669;669;669;669	ENSP00000348573:D657H;ENSP00000351922:D669H;ENSP00000350813:D669H	ENSP00000348573:D657H	D	+	1	0	AKAP9	91469136	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.178000	0.65037	2.758000	0.94735	0.650000	0.86243	GAT		0.323	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751		4	21	0	0	0	0.000602	0	4	21		
AKAP9	10142	broad.mit.edu	37	7	91722446	91722446	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:91722446C>G	ENST00000359028.2	+	39	9631	c.9406C>G	c.(9406-9408)Caa>Gaa	p.Q3136E	AKAP9_ENST00000356239.3_Missense_Mutation_p.Q3132E|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q3082E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3136					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGCAGTCTCAAATGCTGGA	0.378			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(9394-9396)CAA>GAA		A-kinase anchor protein 9 isoform 2							61.0	61.0	61.0					7																	91722446		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91722446C>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9406C>G	7.37:g.91722446C>G	ENSP00000351922:p.Gln3136Glu					AKAP9_uc003ulf.2_Missense_Mutation_p.Q3124E|AKAP9_uc003uli.2_Missense_Mutation_p.Q2755E|AKAP9_uc003ulj.2_Missense_Mutation_p.Q902E|AKAP9_uc003ull.2_Missense_Mutation_p.Q28E	p.Q3132E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		39	9619	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3136			Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.9394C>G		.	.	.	.	.	.	.	.	.	.	C	13.91	2.378913	0.42207	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03689	3.93;3.92;3.96;3.84	5.16	5.16	0.70880	.	0.416484	0.17593	N	0.168691	T	0.06188	0.0160	M	0.65975	2.015	0.26412	N	0.976241	B;P;P;P;P	0.42692	0.255;0.787;0.682;0.787;0.787	B;B;B;B;B	0.33454	0.057;0.164;0.079;0.164;0.164	T	0.33163	-0.9879	10	0.33940	T	0.23	.	18.1686	0.89737	0.0:1.0:0.0:0.0	.	407;3136;3136;3132;3124	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	E	3132;3136;3082;3136;978	ENSP00000348573:Q3132E;ENSP00000351922:Q3136E;ENSP00000350813:Q3082E;ENSP00000378042:Q978E	ENSP00000348573:Q3132E	Q	+	1	0	AKAP9	91560382	0.894000	0.30519	0.972000	0.41901	0.479000	0.33129	1.325000	0.33724	2.835000	0.97688	0.655000	0.94253	CAA		0.378	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751		6	36	0	0	0	0.00308	0	6	36		
ANKIB1	54467	broad.mit.edu	37	7	92027928	92027928	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:92027928G>C	ENST00000265742.3	+	20	3311	c.2935G>C	c.(2935-2937)Gac>Cac	p.D979H		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	979							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGGTTTCATGACATGAACCC	0.478																																						uc003ulw.2		NaN																	0				lung(1)	1						c.(2935-2937)GAC>CAC		ankyrin repeat and IBR domain containing 1							121.0	117.0	119.0					7																	92027928		2009	4182	6191	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92027928G>C	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2935G>C	7.37:g.92027928G>C	ENSP00000265742:p.Asp979His					ANKIB1_uc010lew.1_Missense_Mutation_p.D248H	p.D979H	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	3311	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		979					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2935G>C	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491159	0.84962	.	.	ENSG00000001629	ENST00000265742	T	0.14893	2.47	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.927	T	0.03034	-1.1080	10	0.87932	D	0	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	331;979	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	H	979	ENSP00000265742:D979H	ENSP00000265742:D979H	D	+	1	0	ANKIB1	91865864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.407000	0.80029	2.941000	0.99782	0.655000	0.94253	GAC		0.478	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1				20	96	0	0	0	0.003954	0	20	96		
PEX1	5189	broad.mit.edu	37	7	92118624	92118624	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:92118624C>A	ENST00000248633.4	-	23	3845	c.3750G>T	c.(3748-3750)tgG>tgT	p.W1250C	PEX1_ENST00000428214.1_Missense_Mutation_p.W1193C|AC007566.10_ENST00000441539.1_RNA|AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000438045.1_Missense_Mutation_p.W928C	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1250					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAAAATTCTTCCAGTCATCTT	0.378																																						uc003uly.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3748-3750)TGG>TGT		peroxin1							119.0	100.0	106.0					7																	92118624		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92118624C>A	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3750G>T	7.37:g.92118624C>A	ENSP00000248633:p.Trp1250Cys					PEX1_uc011khr.1_Missense_Mutation_p.W1042C|PEX1_uc010ley.2_Missense_Mutation_p.W1193C|PEX1_uc011khs.1_Missense_Mutation_p.W928C	p.W1250C	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		23	3846	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	1250					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.3750G>T	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998454	0.54147	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.94758	-3.44;-3.51;-3.47	5.32	4.43	0.53597	.	0.112285	0.64402	D	0.000004	D	0.95771	0.8624	M	0.63843	1.955	0.80722	D	1	B;D;D	0.69078	0.131;0.997;0.997	B;P;P	0.57371	0.04;0.819;0.819	D	0.95871	0.8891	10	0.62326	D	0.03	-2.1119	16.4879	0.84189	0.0:0.869:0.131:0.0	.	928;1042;1250	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	C	928;1250;1193	ENSP00000410438:W928C;ENSP00000248633:W1250C;ENSP00000394413:W1193C	ENSP00000248633:W1250C	W	-	3	0	PEX1	91956560	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	5.302000	0.65733	1.343000	0.45638	0.655000	0.94253	TGG		0.378	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3		NM_000466		5	25	1	0	3.59834e-05	0.001168	3.71589e-05	5	25		
PEX1	5189	broad.mit.edu	37	7	92147127	92147127	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:92147127C>T	ENST00000248633.4	-	5	797	c.702G>A	c.(700-702)gaG>gaA	p.E234E	PEX1_ENST00000428214.1_Silent_p.E234E|PEX1_ENST00000541751.1_5'Flank|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	234					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAACTGGAATCTCTGACTCGT	0.373																																						uc003uly.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(700-702)GAG>GAA		peroxin1							98.0	95.0	96.0					7																	92147127		2203	4300	6503	SO:0001819	synonymous_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92147127C>T	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.702G>A	7.37:g.92147127C>T						PEX1_uc011khr.1_Silent_p.E26E|PEX1_uc010ley.2_Silent_p.E234E|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	p.E234E	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	798	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	234					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	c.702G>A	CCDS5627.1																																																																																				0.373	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3		NM_000466		3	23	0	0	0	0.004672	0	3	23		
CALCR	799	broad.mit.edu	37	7	93055834	93055834	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:93055834C>T	ENST00000394441.1	-	13	1574	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	CALCR_ENST00000360249.4_Missense_Mutation_p.R436H|CALCR_ENST00000359558.2_Missense_Mutation_p.R454H|CALCR_ENST00000426151.1_Missense_Mutation_p.R420H|CALCR_ENST00000421592.1_Missense_Mutation_p.R436H	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	454					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GTTGGAGGGGCGCCTCCCCCA	0.562																																						uc003umv.1		NaN																	0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1360-1362)CGC>CAC		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						60.0	65.0	64.0					7																	93055834		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93055834C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1259G>A	7.37:g.93055834C>T	ENSP00000377959:p.Arg420His					CALCR_uc011kia.1_Missense_Mutation_p.R234H|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.R420H|CALCR_uc003umw.2_Missense_Mutation_p.R420H	p.R454H	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		15	1622	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		436			Cytoplasmic (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1361G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	9.476	1.096845	0.20552	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	4.92	-2.2	0.06994	.	.	.	.	.	T	0.20251	0.0487	L	0.31065	0.9	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.06405	0.002;0.001	T	0.21245	-1.0251	9	0.27785	T	0.31	.	4.0221	0.09670	0.2461:0.2624:0.4117:0.0799	.	454;420	F5H605;A4D1G6	.;.	H	454;436;436;420;420	ENSP00000352561:R454H;ENSP00000353385:R436H;ENSP00000399552:R436H;ENSP00000377959:R420H;ENSP00000389295:R420H	ENSP00000352561:R454H	R	-	2	0	CALCR	92893770	0.933000	0.31639	0.000000	0.03702	0.008000	0.06430	0.636000	0.24644	-0.555000	0.06142	-0.291000	0.09656	CGC		0.562	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2		NM_001742		10	79	0	0	0	0.010729	0	10	79		
LMTK2	22853	broad.mit.edu	37	7	97821789	97821789	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:97821789C>T	ENST00000297293.5	+	11	2305	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	671					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACTTTAAGTTCCAGTTTGGAT	0.413																																						uc003upd.1		NaN																	0				lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(2011-2013)TCC>TTC		lemur tyrosine kinase 2 precursor							77.0	86.0	83.0					7																	97821789		2202	4300	6502	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821789C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2012C>T	7.37:g.97821789C>T	ENSP00000297293:p.Ser671Phe						p.S671F	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			11	2305	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		671					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.2012C>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332821	0.60853	.	.	ENSG00000164715	ENST00000297293	T	0.79554	-1.28	5.91	4.07	0.47477	.	1.080400	0.06942	N	0.813048	D	0.83940	0.5363	M	0.62723	1.935	0.09310	N	1	D	0.57899	0.981	P	0.50231	0.635	T	0.69064	-0.5244	10	0.72032	D	0.01	.	10.5984	0.45352	0.0:0.7955:0.1336:0.0709	.	671	Q8IWU2	LMTK2_HUMAN	F	671	ENSP00000297293:S671F	ENSP00000297293:S671F	S	+	2	0	LMTK2	97659725	0.000000	0.05858	0.007000	0.13788	0.952000	0.60782	0.374000	0.20501	0.799000	0.34018	0.655000	0.94253	TCC		0.413	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1		NM_014916		17	99	0	0	0	0.007413	0	17	99		
CYP3A4	1576	broad.mit.edu	37	7	99364028	99364028	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:99364028C>T	ENST00000336411.2	-	9	1020	c.837G>A	c.(835-837)caG>caA	p.Q279Q	CYP3A4_ENST00000354593.2_Silent_p.Q129Q|RP11-757A13.1_ENST00000608397.1_RNA	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	279				Q -> HK (in Ref. 1; BAA00001/AAA35742). {ECO:0000305}.	alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	CTTTTGAATTCTGAGAGTCAA	0.448																																						uc003urv.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(835-837)CAG>CAA		cytochrome P450, family 3, subfamily A,	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						105.0	99.0	101.0					7																	99364028		2203	4300	6503	SO:0001819	synonymous_variant	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99364028C>T	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.837G>A	7.37:g.99364028C>T						CYP3A4_uc003urw.1_Silent_p.Q278Q|CYP3A4_uc011kiz.1_Silent_p.Q238Q|CYP3A4_uc011kja.1_Silent_p.Q230Q|CYP3A4_uc011kjb.1_Silent_p.Q129Q	p.Q279Q	NM_017460	NP_059488	P08684	CP3A4_HUMAN			9	941	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		279	Q -> HK (in Ref. 1; BAA00001/AAA35742).				P05184|Q16757|Q9UK50	Silent	SNP	ENST00000336411.2	37	c.837G>A	CCDS5674.1																																																																																				0.448	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1				5	32	0	0	0	0.001984	0	5	32		
ZSCAN21	7589	broad.mit.edu	37	7	99654714	99654714	+	Missense_Mutation	SNP	G	G	A	rs372435376		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:99654714G>A	ENST00000292450.4	+	2	249	c.85G>A	c.(85-87)Gag>Aag	p.E29K	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E29K|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E29K|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	29					positive regulation of transcription, DNA-templated (GO:0045893)|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)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGTAAAAGTCGAGGAGAAAGA	0.557																																						uc003uso.2		NaN																	0				ovary(3)	3						c.(85-87)GAG>AAG		zinc finger protein 38		G	LYS/GLU	0,4406		0,0,2203	127.0	131.0	130.0		85	2.1	0.0	7		130	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZSCAN21	NM_145914.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	29/474	99654714	1,13005	2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99654714G>A	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.85G>A	7.37:g.99654714G>A	ENSP00000292450:p.Glu29Lys					ZSCAN21_uc011kje.1_Missense_Mutation_p.E28K|ZSCAN21_uc003usn.1_Missense_Mutation_p.E28K	p.E29K	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	229	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		29					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.85G>A	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	8.044	0.764556	0.15914	0.0	1.16E-4	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.09073	3.75;3.02;3.75;3.82	4.91	2.13	0.27403	.	0.000000	0.40385	N	0.001113	T	0.04770	0.0129	L	0.29908	0.895	0.09310	N	1	B;P	0.42620	0.004;0.785	B;B	0.31290	0.001;0.127	T	0.36720	-0.9736	10	0.87932	D	0	.	6.8603	0.24064	0.2866:0.0:0.7134:0.0	.	29;29	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	K	29	ENSP00000441212:E29K;ENSP00000292450:E29K;ENSP00000390960:E29K;ENSP00000404207:E29K	ENSP00000292450:E29K	E	+	1	0	ZSCAN21	99492650	0.613000	0.27009	0.001000	0.08648	0.223000	0.24884	0.628000	0.24522	0.370000	0.24538	-0.136000	0.14681	GAG		0.557	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1		NM_145914		22	111	0	0	0	0.002299	0	22	111		
GATS	352954	broad.mit.edu	37	7	99869490	99869490	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:99869490G>C	ENST00000436886.2	-	1	365	c.117C>G	c.(115-117)atC>atG	p.I39M	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	39										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCAAGTTTGATCAGGCCCG	0.677																																						uc003uua.3		NaN																	0					0						c.(115-117)ATC>ATG		GATS, stromal antigen 3 opposite strand							80.0	90.0	87.0					7																	99869490		1934	4134	6068	SO:0001583	missense	352954							g.chr7:99869490G>C	AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"""stromal antigen 3 opposite strand"""					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.117C>G	7.37:g.99869490G>C	ENSP00000389760:p.Ile39Met					GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc010lgu.2_RNA	p.I39M	NM_178831	NP_849153	Q8NAP1	GATS_HUMAN			1	366	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		39					D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	Missense_Mutation	SNP	ENST00000436886.2	37	c.117C>G	CCDS43621.1	.	.	.	.	.	.	.	.	.	.	G	5.898	0.349794	0.11182	.	.	ENSG00000160844	ENST00000436886	.	.	.	0.87	0.87	0.19102	.	0.079450	0.46758	U	0.000268	T	0.25082	0.0609	N	0.24115	0.695	0.29907	N	0.823904	B	0.15141	0.012	B	0.09377	0.004	T	0.19712	-1.0297	9	0.66056	D	0.02	.	7.6234	0.28197	0.0:0.0:1.0:0.0	.	39	Q8NAP1	GATS_HUMAN	M	39	.	ENSP00000389760:I39M	I	-	3	3	GATS	99707426	1.000000	0.71417	0.995000	0.50966	0.089000	0.18198	3.307000	0.51888	0.765000	0.33221	0.173000	0.16961	ATC		0.677	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_178831		15	122	0	0	0	0.006122	0	15	122		
MOSPD3	64598	broad.mit.edu	37	7	100212805	100212805	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:100212805G>A	ENST00000393950.2	+	5	989	c.707G>A	c.(706-708)tGa>tAa	p.*236*	MOSPD3_ENST00000424091.2_Silent_p.*226*|MOSPD3_ENST00000223054.4_Silent_p.*236*|MOSPD3_ENST00000379527.2_Silent_p.*236*	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	0					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTCCGGACCTGAGCTCCGTGC	0.622																																						uc003uvq.2		NaN																	0				ovary(2)	2						c.(706-708)TGA>TAA		motile sperm domain containing 3 isoform a							91.0	85.0	87.0					7																	100212805		2203	4300	6503	SO:0001819	synonymous_variant	64598					integral to membrane	structural molecule activity	g.chr7:100212805G>A	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.707G>A	7.37:g.100212805G>A						MOSPD3_uc003uvr.2_Silent_p.*236*|MOSPD3_uc003uvs.2_Silent_p.*236*|MOSPD3_uc003uvt.2_Silent_p.*226*	p.*236*	NM_001040097	NP_001035186	O75425	MSPD3_HUMAN			6	909	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		236					A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	37	c.707G>A	CCDS5701.1																																																																																				0.622	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1		NM_023948		16	103	0	0	0	0.012319	0	16	103		
EPHB4	2050	broad.mit.edu	37	7	100404054	100404054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:100404054C>T	ENST00000358173.3	-	14	2940	c.2472G>A	c.(2470-2472)atG>atA	p.M824I	EPHB4_ENST00000360620.3_Missense_Mutation_p.M824I	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	824	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTGATTGCTCATGTCCCAGT	0.547																																					GBM(200;2113 3072 25865 52728)	uc003uwn.1		NaN																	0				lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15						c.(2470-2472)ATG>ATA		EPH receptor B4 precursor							184.0	140.0	155.0					7																	100404054		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100404054C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2472G>A	7.37:g.100404054C>T	ENSP00000350896:p.Met824Ile					EPHB4_uc003uwm.1_Missense_Mutation_p.M731I|EPHB4_uc010lhj.1_Missense_Mutation_p.M824I	p.M824I	NM_004444	NP_004435	P54760	EPHB4_HUMAN			14	2963	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		824			Cytoplasmic (Potential).|Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.2472G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681790	0.88542	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.82619	-1.63;-1.63	4.44	4.44	0.53790	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000017	D	0.86527	0.5954	L	0.38733	1.17	0.58432	D	0.999992	P;D	0.67145	0.954;0.996	D;D	0.79784	0.96;0.993	D	0.88246	0.2913	10	0.87932	D	0	.	14.5502	0.68059	0.0:1.0:0.0:0.0	.	824;824	Q96L35;P54760	.;EPHB4_HUMAN	I	824	ENSP00000353833:M824I;ENSP00000350896:M824I	ENSP00000350896:M824I	M	-	3	0	EPHB4	100241990	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.818000	0.86416	2.021000	0.59480	0.455000	0.32223	ATG		0.547	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1		NM_004444		18	78	0	0	0	0.012319	0	18	78		
PSMC2	5701	broad.mit.edu	37	7	103008184	103008184	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:103008184C>T	ENST00000435765.1	+	12	1483	c.1072C>T	c.(1072-1074)Cac>Tac	p.H358Y	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.H358Y|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.H221Y|SLC26A5_ENST00000393735.2_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	358					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						ATTTAAGATTCACGCTCGTTC	0.338																																						uc003vbs.2		NaN																	0					0						c.(1072-1074)CAC>TAC		proteasome 26S ATPase subunit 2							82.0	84.0	83.0					7																	103008184		2203	4300	6503	SO:0001583	missense	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103008184C>T	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1072C>T	7.37:g.103008184C>T	ENSP00000391211:p.His358Tyr					SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.H221Y	p.H358Y	NM_002803	NP_002794	P35998	PRS7_HUMAN			11	1142	+			358					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.1072C>T	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431622	0.83776	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.94758	-3.51;-3.51;-3.51	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.97331	0.9127	M	0.83223	2.63	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	D	0.98065	1.0395	10	0.87932	D	0	-22.2056	18.5675	0.91121	0.0:1.0:0.0:0.0	.	358	P35998	PRS7_HUMAN	Y	358;358;221	ENSP00000391211:H358Y;ENSP00000292644:H358Y;ENSP00000445546:H221Y	ENSP00000292644:H358Y	H	+	1	0	PSMC2	102795420	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.523000	0.81856	2.367000	0.80283	0.644000	0.83932	CAC		0.338	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1		NM_002803		13	48	0	0	0	0.001855	0	13	48		
LAMB1	3912	broad.mit.edu	37	7	107599732	107599732	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:107599732C>T	ENST00000222399.6	-	20	2882	c.2652G>A	c.(2650-2652)ttG>ttA	p.L884L	LAMB1_ENST00000393561.1_Silent_p.L908L	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	884	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CCTGGCAGTTCAAGCACTCCC	0.542																																						uc003vew.2		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(2650-2652)TTG>TTA		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						165.0	152.0	157.0					7																	107599732		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107599732C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2652G>A	7.37:g.107599732C>T						LAMB1_uc003vev.2_Silent_p.L908L	p.L884L	NM_002291	NP_002282	P07942	LAMB1_HUMAN			20	2987	-			884			Laminin EGF-like 8.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.2652G>A	CCDS5750.1																																																																																				0.542	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1		NM_002291		35	238	0	0	0	0.013114	0	35	238		
DOCK4	9732	broad.mit.edu	37	7	111509670	111509670	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:111509670G>A	ENST00000437633.1	-	21	2325	c.2069C>T	c.(2068-2070)aCa>aTa	p.T690I	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.T690I	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	690					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTCTGCTTCTGTGATCCGGTC	0.423																																						uc003vfx.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(2068-2070)ACA>ATA		dedicator of cytokinesis 4							164.0	146.0	152.0					7																	111509670		1999	4181	6180	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111509670G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2069C>T	7.37:g.111509670G>A	ENSP00000404179:p.Thr690Ile					DOCK4_uc003vfw.2_Missense_Mutation_p.T131I|DOCK4_uc003vfy.2_Missense_Mutation_p.T690I|DOCK4_uc003vga.1_Missense_Mutation_p.T295I	p.T690I	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			21	2338	-		Acute lymphoblastic leukemia(1;0.0441)	690					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.2069C>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.73|14.73	2.623744|2.623744	0.46840|0.46840	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.46451	.|0.87;0.87	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.181575	.|0.49305	.|D	.|0.000145	.|T	.|0.21387	.|0.0515	N|N	0.03324|0.03324	-0.35|-0.35	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.13145	.|0.004;0.0;0.004;0.007	.|B;B;B;B	.|0.12837	.|0.005;0.001;0.002;0.008	.|T	.|0.06409	.|-1.0828	.|10	.|0.42905	.|T	.|0.14	.|.	11.5936|11.5936	0.50959|0.50959	0.0802:0.0:0.9198:0.0|0.0802:0.0:0.9198:0.0	.|.	.|690;690;690;690	.|Q149N2;Q149N5;Q8N1I0;Q8N1I0-2	.|.;.;DOCK4_HUMAN;.	X|I	142;678|678;690;690;678;689	.|ENSP00000410746:T690I;ENSP00000404179:T690I	.|ENSP00000345432:T678I	Q|T	-|-	1|2	0|0	DOCK4|DOCK4	111296906|111296906	1.000000|1.000000	0.71417|0.71417	0.912000|0.912000	0.35992|0.35992	0.995000|0.995000	0.86356|0.86356	7.215000|7.215000	0.77966|0.77966	2.781000|2.781000	0.95711|0.95711	0.650000|0.650000	0.86243|0.86243	CAG|ACA		0.423	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4		NM_014705		12	47	0	0	0	0.00499	0	12	47		
PTPRZ1	5803	broad.mit.edu	37	7	121652246	121652246	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:121652246G>A	ENST00000393386.2	+	12	3557	c.3146G>A	c.(3145-3147)gGa>gAa	p.G1049E	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1049					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATAATATATGGAAATGAGACT	0.333																																						uc003vjy.2		NaN																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(3145-3147)GGA>GAA		protein tyrosine phosphatase, receptor-type,							88.0	92.0	90.0					7																	121652246		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652246G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3146G>A	7.37:g.121652246G>A	ENSP00000377047:p.Gly1049Glu					PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	p.G1049E	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	3541	+			1049			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.3146G>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	9.394	1.076330	0.20227	.	.	ENSG00000106278	ENST00000393386	T	0.47528	0.84	5.68	3.82	0.43975	.	0.245482	0.35615	N	0.003098	T	0.44435	0.1293	M	0.67953	2.075	0.80722	D	1	B	0.22541	0.071	B	0.20184	0.028	T	0.33059	-0.9883	10	0.42905	T	0.14	.	9.7141	0.40263	0.0698:0.2694:0.6608:0.0	.	1049	P23471	PTPRZ_HUMAN	E	1049	ENSP00000377047:G1049E	ENSP00000377047:G1049E	G	+	2	0	PTPRZ1	121439482	1.000000	0.71417	0.983000	0.44433	0.978000	0.69477	3.523000	0.53488	0.702000	0.31825	0.650000	0.86243	GGA		0.333	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1		NM_002851		4	20	0	0	0	0.000602	0	4	20		
TAS2R16	50833	broad.mit.edu	37	7	122635052	122635052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:122635052C>T	ENST00000249284.2	-	1	702	c.637G>A	c.(637-639)Ggt>Agt	p.G213S		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	213					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGCAGTGACCAGTGCTATGA	0.463																																						uc003vkl.1		NaN																	0				ovary(1)|skin(1)	2						c.(637-639)GGT>AGT		taste receptor T2R16							157.0	130.0	139.0					7																	122635052		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635052C>T	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.637G>A	7.37:g.122635052C>T	ENSP00000249284:p.Gly213Ser						p.G213S	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	703	-			213			Cytoplasmic (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.637G>A	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837269	0.32513	.	.	ENSG00000128519	ENST00000249284	T	0.01084	5.36	4.45	-1.22	0.09494	.	0.138557	0.45867	N	0.000326	T	0.00875	0.0029	N	0.25031	0.7	0.09310	N	1	P	0.43857	0.819	P	0.44477	0.451	T	0.51980	-0.8636	10	0.23302	T	0.38	.	2.7838	0.05368	0.3374:0.3522:0.0:0.3104	.	213	Q9NYV7	T2R16_HUMAN	S	213	ENSP00000249284:G213S	ENSP00000249284:G213S	G	-	1	0	TAS2R16	122422288	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.502000	0.06390	-0.040000	0.13580	0.655000	0.94253	GGT		0.463	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1		NM_016945		7	44	0	0	0	0.006214	0	7	44		
FLNC	2318	broad.mit.edu	37	7	128490515	128490515	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:128490515G>A	ENST00000325888.8	+	32	5637	c.5376G>A	c.(5374-5376)gcG>gcA	p.A1792A	FLNC_ENST00000346177.6_Silent_p.A1759A|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1792					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCCCTTCGCGGTGCAGAAAG	0.607																																						uc003vnz.3		NaN																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(5374-5376)GCG>GCA		gamma filamin isoform a							92.0	99.0	97.0					7																	128490515		1971	4162	6133	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128490515G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5376G>A	7.37:g.128490515G>A						FLNC_uc003voa.3_Silent_p.A1759A	p.A1792A	NM_001458	NP_001449	Q14315	FLNC_HUMAN			32	5585	+			1792			Filamin 16.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.5376G>A	CCDS43644.1																																																																																				0.607	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3				27	142	0	0	0	0.010818	0	27	142		
CPA2	1358	broad.mit.edu	37	7	129912983	129912983	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:129912983C>T	ENST00000222481.4	+	5	507	c.452C>T	c.(451-453)tCt>tTt	p.S151F		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	151					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AATATTGGCTCTTCTTTTGAG	0.473																																						uc003vpq.2		NaN																	0				ovary(1)	1						c.(451-453)TCT>TTT		carboxypeptidase A2 (pancreatic) precursor							91.0	82.0	85.0					7																	129912983		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129912983C>T	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.452C>T	7.37:g.129912983C>T	ENSP00000222481:p.Ser151Phe					CPA2_uc011kpc.1_Missense_Mutation_p.S151F	p.S151F	NM_001869	NP_001860	P48052	CBPA2_HUMAN			5	471	+	Melanoma(18;0.0435)		151					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.452C>T	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951368	0.34471	.	.	ENSG00000158516	ENST00000222481	T	0.11169	2.8	5.76	-0.0701	0.13748	Peptidase M14, carboxypeptidase A (3);	1.815830	0.02269	N	0.068278	T	0.15998	0.0385	M	0.62088	1.915	0.09310	N	1	P;B	0.41524	0.753;0.012	B;B	0.40702	0.338;0.051	T	0.35201	-0.9798	10	0.49607	T	0.09	.	8.2605	0.31781	0.2894:0.5422:0.1684:0.0	.	149;151	B4DDX9;P48052	.;CBPA2_HUMAN	F	151	ENSP00000222481:S151F	ENSP00000222481:S151F	S	+	2	0	CPA2	129700219	0.000000	0.05858	0.055000	0.19348	0.915000	0.54546	-0.314000	0.08092	-0.016000	0.14127	0.655000	0.94253	TCT		0.473	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2		NM_001869		7	53	0	0	0	0.004482	0	7	53		
OR2F2	135948	broad.mit.edu	37	7	143632802	143632802	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:143632802G>A	ENST00000408955.2	+	1	544	c.477G>A	c.(475-477)caG>caA	p.Q159Q		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CTCTTGTGCAGACTGCTATCA	0.527																																						uc011ktv.1		NaN																	0				ovary(3)|skin(1)	4						c.(475-477)CAG>CAA		olfactory receptor, family 2, subfamily F,							139.0	123.0	128.0					7																	143632802		2203	4300	6503	SO:0001819	synonymous_variant	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632802G>A		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.477G>A	7.37:g.143632802G>A							p.Q159Q	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			1	477	+	Melanoma(164;0.0903)		159			Extracellular (Potential).		A4D2G0|Q6IFP8	Silent	SNP	ENST00000408955.2	37	c.477G>A	CCDS43666.1																																																																																				0.527	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1				14	93	0	0	0	0.00499	0	14	93		
GIMAP6	474344	broad.mit.edu	37	7	150327201	150327201	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:150327201G>C	ENST00000328902.5	-	2	246	c.30C>G	c.(28-30)ccC>ccG	p.P10P	GIMAP6_ENST00000493969.1_Silent_p.P10P	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	10						cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATTCTCCTGGGGAATTTGTT	0.423																																						uc003whn.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(28-30)CCC>CCG		GTPase, IMAP family member 6							125.0	130.0	128.0					7																	150327201		2203	4300	6503	SO:0001819	synonymous_variant	474344						GTP binding	g.chr7:150327201G>C	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.30C>G	7.37:g.150327201G>C						GIMAP6_uc003whm.2_Missense_Mutation_p.P5R	p.P10P	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	454	-			10					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Silent	SNP	ENST00000328902.5	37	c.30C>G	CCDS34778.1																																																																																				0.423	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1		NM_024711		20	136	0	0	0	0.012319	0	20	136		
GIMAP5	55340	broad.mit.edu	37	7	150439547	150439547	+	Missense_Mutation	SNP	C	C	G	rs373837681		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:150439547C>G	ENST00000358647.3	+	3	687	c.320C>G	c.(319-321)tCt>tGt	p.S107C	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	107	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)	p.S107C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACCTGCTCTCTGCCCCGGGG	0.582																																						uc003whr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(319-321)TCT>TGT		GTPase, IMAP family member 5		C	CYS/SER,CYS/SER	1,4405	2.1+/-5.4	0,1,2202	86.0	85.0	85.0		932,320	1.9	0.3	7		85	0,8600		0,0,4300	no	missense,missense	GIMAP5,GIMAP1-GIMAP5	NM_001199577.1,NM_018384.4	112,112	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign,benign	311/512,107/308	150439547	1,13005	2203	4300	6503	SO:0001583	missense	55340					integral to membrane|mitochondrial outer membrane	GTP binding	g.chr7:150439547C>G	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.320C>G	7.37:g.150439547C>G	ENSP00000351473:p.Ser107Cys					GIMAP5_uc010lpu.2_5'UTR	p.S107C	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	672	+			107			Cytoplasmic (Potential).		D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.320C>G	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367886	0.42003	2.27E-4	0.0	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.07021	3.23	3.82	1.87	0.25490	AIG1 (1);	0.348569	0.30911	N	0.008621	T	0.07503	0.0189	L	0.33668	1.02	0.27109	N	0.962421	P	0.40515	0.719	B	0.40702	0.338	T	0.15407	-1.0438	10	0.48119	T	0.1	.	9.7886	0.40692	0.0:0.5652:0.4348:0.0	.	107	Q96F15	GIMA5_HUMAN	C	107;143	ENSP00000351473:S107C	ENSP00000351473:S107C	S	+	2	0	GIMAP5	150070480	0.000000	0.05858	0.339000	0.25562	0.802000	0.45316	0.552000	0.23376	0.347000	0.23924	0.655000	0.94253	TCT		0.582	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2		NM_018384		12	117	0	0	0	0.00499	0	12	117		
RP1L1	94137	broad.mit.edu	37	8	10468839	10468839	+	Silent	SNP	G	G	A	rs373203833		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:10468839G>A	ENST00000382483.3	-	4	2992	c.2769C>T	c.(2767-2769)tcC>tcT	p.S923S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	923					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTTCTCCTCGGACAGCCCCC	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		14086	0.0		0.001	False		,,,				2504	0.0					uc003wtc.2		NaN																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(2767-2769)TCC>TCT		retinitis pigmentosa 1-like 1		G		0,3932		0,0,1966	21.0	26.0	25.0		2769	-2.0	0.0	8		25	1,8263		0,1,4131	no	coding-synonymous	RP1L1	NM_178857.5		0,1,6097	AA,AG,GG		0.0121,0.0,0.0082		923/2401	10468839	1,12195	1966	4132	6098	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10468839G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2769C>T	8.37:g.10468839G>A							p.S923S	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2998	-			923					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.2769C>T	CCDS43708.1																																																																																				0.697	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1				7	44	0	0	0	0.00308	0	7	44		
XPO7	23039	broad.mit.edu	37	8	21848409	21848409	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:21848409C>T	ENST00000252512.9	+	18	2120	c.2020C>T	c.(2020-2022)Cgt>Tgt	p.R674C	XPO7_ENST00000434536.1_Missense_Mutation_p.R683C|XPO7_ENST00000433566.4_Missense_Mutation_p.R675C	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	674					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGCACTTGGGCGTCTCCTCAT	0.418																																						uc003xaa.3		NaN																	0				ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(2020-2022)CGT>TGT		exportin 7 isoform b							214.0	209.0	211.0					8																	21848409		1906	4130	6036	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21848409C>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.2020C>T	8.37:g.21848409C>T	ENSP00000252512:p.Arg674Cys					XPO7_uc010lti.2_Missense_Mutation_p.R683C|XPO7_uc010ltk.2_Missense_Mutation_p.R675C	p.R674C	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	18	2122	+			674					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.2020C>T	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897763	0.91962	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.68331	-0.32;-0.32;-0.32	5.94	5.94	0.96194	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82435	0.5036	M	0.74881	2.28	0.80722	D	1	D;P;P	0.89917	1.0;0.868;0.868	D;B;B	0.91635	0.999;0.369;0.369	T	0.79943	-0.1590	10	0.39692	T	0.17	-8.4213	19.9641	0.97260	0.0:1.0:0.0:0.0	.	675;683;674	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	C	683;674;675	ENSP00000404853:R683C;ENSP00000252512:R674C;ENSP00000410249:R675C	ENSP00000252512:R674C	R	+	1	0	XPO7	21904355	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.853000	0.69496	2.819000	0.97034	0.650000	0.86243	CGT		0.418	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1		NM_015024		23	173	0	0	0	0.008361	0	23	173		
FAM160B2	64760	broad.mit.edu	37	8	21958231	21958231	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:21958231G>A	ENST00000289921.7	+	11	1514	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	490										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						ACCAGAGCCTGAGAGCTATGA	0.617																																						uc011kyx.1		NaN																	0					0						c.(1468-1470)GAG>AAG		retinoic acid induced 16							99.0	111.0	107.0					8																	21958231		2037	4186	6223	SO:0001583	missense	64760							g.chr8:21958231G>A	AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1468G>A	8.37:g.21958231G>A	ENSP00000289921:p.Glu490Lys					FAM160B2_uc011kyy.1_RNA	p.E490K	NM_022749	NP_073586	Q86V87	F16B2_HUMAN			11	1519	+			490					B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	ENST00000289921.7	37	c.1468G>A	CCDS6021.2	.	.	.	.	.	.	.	.	.	.	.	20.5	4.008496	0.75046	.	.	ENSG00000158863	ENST00000289921	T	0.16073	2.37	5.59	5.59	0.84812	.	0.221878	0.45867	D	0.000334	T	0.23965	0.0580	L	0.55481	1.735	0.49389	D	0.999789	B	0.31790	0.34	B	0.37047	0.24	T	0.01541	-1.1329	10	0.52906	T	0.07	-28.2648	17.0973	0.86638	0.0:0.0:1.0:0.0	.	490	Q86V87	F16B2_HUMAN	K	490	ENSP00000289921:E490K	ENSP00000289921:E490K	E	+	1	0	FAM160B2	22014176	1.000000	0.71417	0.972000	0.41901	0.640000	0.38277	8.448000	0.90335	2.645000	0.89757	0.655000	0.94253	GAG		0.617	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2				29	176	0	0	0	0.003271	0	29	176		
PRKDC	5591	broad.mit.edu	37	8	48690357	48690357	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:48690357C>T	ENST00000314191.2	-	85	11985	c.11929G>A	c.(11929-11931)Ggc>Agc	p.G3977S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.G3946S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3978	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TACATAAGGCCCGTTTCTTTC	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NaN																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(11932-11934)GGC>AGC	NHEJ	protein kinase, DNA-activated, catalytic							130.0	137.0	134.0					8																	48690357		2066	4230	6296	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48690357C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11929G>A	8.37:g.48690357C>T	ENSP00000313420:p.Gly3977Ser					PRKDC_uc003xqj.2_Missense_Mutation_p.G3947S|PRKDC_uc011ldh.1_Intron	p.G3978S	NM_006904	NP_008835	P78527	PRKDC_HUMAN			85	11989	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3978			PI3K/PI4K.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.11932G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.389284|4.389284	0.82902|0.82902	.|.	.|.	ENSG00000253729|ENSG00000253729	ENST00000536429|ENST00000314191;ENST00000338368	.|D;D	.|0.87029	.|-2.2;-2.2	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.105026|0.105026	0.64402|0.64402	D|D	0.000004|0.000004	D|D	0.95452|0.95452	0.8523|0.8523	M|M	0.93550|0.93550	3.43|3.43	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.997	.|D;D	.|0.80764	.|0.994;0.99	D|D	0.95756|0.95756	0.8796|0.8796	6|10	.|0.56958	.|D	.|0.05	.|.	19.5825|19.5825	0.95473|0.95473	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3946;3978	.|E7EUY0;P78527	.|.;PRKDC_HUMAN	E|S	53|3977;3946	.|ENSP00000313420:G3977S;ENSP00000345182:G3946S	.|ENSP00000313420:G3977S	G|G	-|-	2|1	0|0	PRKDC|PRKDC	48852910|48852910	1.000000|1.000000	0.71417|0.71417	0.745000|0.745000	0.31077|0.31077	0.003000|0.003000	0.03518|0.03518	5.743000|5.743000	0.68655|0.68655	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GGG|GGC		0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640		13	102	0	0	0	0.001855	0	13	102		
PRKDC	5591	broad.mit.edu	37	8	48772207	48772207	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:48772207C>T	ENST00000314191.2	-	47	6225	c.6169G>A	c.(6169-6171)Gac>Aac	p.D2057N	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.D2057N	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2058					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGTCTAGGGTCTTGGGAGCTG	0.443								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NaN																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(6172-6174)GAC>AAC	NHEJ	protein kinase, DNA-activated, catalytic							126.0	125.0	125.0					8																	48772207		1895	4120	6015	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48772207C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6169G>A	8.37:g.48772207C>T	ENSP00000313420:p.Asp2057Asn					PRKDC_uc003xqj.2_Missense_Mutation_p.D2058N|PRKDC_uc011ldh.1_Intron	p.D2058N	NM_006904	NP_008835	P78527	PRKDC_HUMAN			47	6229	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2058					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.6172G>A		.	.	.	.	.	.	.	.	.	.	C	14.14	2.446404	0.43429	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.34072	1.38;1.38	5.9	4.07	0.47477	NUC194 (1);Armadillo-type fold (1);	0.302720	0.35407	N	0.003236	T	0.29061	0.0722	L	0.39898	1.24	0.43385	D	0.995498	B;B	0.19445	0.036;0.016	B;B	0.22152	0.026;0.038	T	0.04551	-1.0943	10	0.30078	T	0.28	.	10.7204	0.46036	0.0:0.7968:0.1324:0.0708	.	2057;2058	E7EUY0;P78527	.;PRKDC_HUMAN	N	2057	ENSP00000313420:D2057N;ENSP00000345182:D2057N	ENSP00000313420:D2057N	D	-	1	0	PRKDC	48934760	1.000000	0.71417	0.982000	0.44146	0.920000	0.55202	2.861000	0.48380	0.788000	0.33755	0.561000	0.74099	GAC		0.443	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640		23	173	0	0	0	0.012213	0	23	173		
LYN	4067	broad.mit.edu	37	8	56922538	56922538	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:56922538G>C	ENST00000519728.1	+	13	1704	c.1408G>C	c.(1408-1410)Gat>Cat	p.D470H	LYN_ENST00000520220.2_Missense_Mutation_p.D449H	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	470	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	GAACTGCCCAGATGAGCTCTA	0.483																																						uc003xsk.3		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1408-1410)GAT>CAT		Yamaguchi sarcoma viral (v-yes-1) oncogene							81.0	74.0	76.0					8																	56922538		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56922538G>C	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1408G>C	8.37:g.56922538G>C	ENSP00000428924:p.Asp470His					LYN_uc003xsl.3_Missense_Mutation_p.D449H	p.D470H	NM_002350	NP_002341	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		13	1690	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	470			Protein kinase.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.1408G>C	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677107	0.47886	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	D;D	0.83335	-1.71;-1.71	6.07	5.19	0.71726	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.531055	0.22128	N	0.064230	D	0.84665	0.5522	M	0.72894	2.215	0.09310	N	1	P;B	0.36768	0.569;0.021	B;B	0.41723	0.365;0.092	T	0.80331	-0.1427	10	0.66056	D	0.02	.	15.6695	0.77262	0.0662:0.0:0.9338:0.0	.	540;470	Q6NUK7;P07948	.;LYN_HUMAN	H	470;449	ENSP00000428924:D470H;ENSP00000428424:D449H	ENSP00000428924:D470H	D	+	1	0	LYN	57085092	0.451000	0.25705	0.701000	0.30321	0.978000	0.69477	3.821000	0.55700	2.884000	0.98904	0.655000	0.94253	GAT		0.483	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1		NM_002350		10	73	0	0	0	0.008291	0	10	73		
ASPH	444	broad.mit.edu	37	8	62438579	62438579	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:62438579C>T	ENST00000379454.4	-	22	2044	c.1857G>A	c.(1855-1857)ctG>ctA	p.L619L	ASPH_ENST00000541428.1_Silent_p.L590L	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	619					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTTTTTCCCTCAGGTTTTCAT	0.493																																						uc003xuj.2		NaN																	0				ovary(3)	3						c.(1855-1857)CTG>CTA		aspartate beta-hydroxylase isoform a	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						137.0	123.0	127.0					8																	62438579		2203	4300	6503	SO:0001819	synonymous_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62438579C>T	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1857G>A	8.37:g.62438579C>T						ASPH_uc011leg.1_Silent_p.L590L	p.L619L	NM_004318	NP_004309	Q12797	ASPH_HUMAN			22	2126	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	619			Lumenal (Potential).		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	ENST00000379454.4	37	c.1857G>A	CCDS34898.1																																																																																				0.493	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3		NM_004318		7	55	0	0	0	0.004482	0	7	55		
VCPIP1	80124	broad.mit.edu	37	8	67547599	67547599	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:67547599C>T	ENST00000310421.4	-	3	3064	c.2806G>A	c.(2806-2808)Gat>Aat	p.D936N		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	936					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGCTTGCCATCAGCCATACCT	0.323																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2		NaN																	0				lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(2806-2808)GAT>AAT		valosin containing protein (p97)/p47 complex							48.0	45.0	46.0					8																	67547599		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67547599C>T	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2806G>A	8.37:g.67547599C>T	ENSP00000309031:p.Asp936Asn						p.D936N	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		3	3065	-		Lung NSC(129;0.142)|all_lung(136;0.227)	936					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.2806G>A	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895093	0.72639	.	.	ENSG00000175073	ENST00000310421	T	0.42131	0.98	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.65852	0.2731	M	0.67953	2.075	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.65759	-0.6090	10	0.87932	D	0	-17.2575	20.3539	0.98825	0.0:1.0:0.0:0.0	.	936	Q96JH7	VCIP1_HUMAN	N	936	ENSP00000309031:D936N	ENSP00000309031:D936N	D	-	1	0	VCPIP1	67710153	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	GAT		0.323	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1				6	36	0	0	0	0.006214	0	6	36		
SULF1	23213	broad.mit.edu	37	8	70515500	70515500	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:70515500G>A	ENST00000260128.4	+	11	1852	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.D379N|SULF1_ENST00000458141.2_Missense_Mutation_p.D379N|SULF1_ENST00000419716.3_Missense_Mutation_p.D379N	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	379					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CACACCTCCTGATGTGGACGG	0.542																																						uc010lza.1		NaN																	0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(1135-1137)GAT>AAT		sulfatase 1 precursor							182.0	153.0	163.0					8																	70515500		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70515500G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1135G>A	8.37:g.70515500G>A	ENSP00000260128:p.Asp379Asn					SULF1_uc003xyd.2_Missense_Mutation_p.D379N|SULF1_uc003xye.2_Missense_Mutation_p.D379N|SULF1_uc003xyf.2_Missense_Mutation_p.D379N|SULF1_uc003xyg.2_Missense_Mutation_p.D379N|SULF1_uc003xyh.1_RNA	p.D379N	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		11	1852	+	Breast(64;0.0654)		379					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1135G>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672653	0.88348	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08	6.17	6.17	0.99709	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	L	0.58354	1.805	0.80722	D	1	B	0.20550	0.046	B	0.30943	0.122	D	0.92087	0.5677	10	0.54805	T	0.06	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	379	Q8IWU6	SULF1_HUMAN	N	379	ENSP00000403040:D379N;ENSP00000260128:D379N;ENSP00000385704:D379N;ENSP00000390315:D379N	ENSP00000260128:D379N	D	+	1	0	SULF1	70678054	1.000000	0.71417	0.986000	0.45419	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAT		0.542	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2		NM_015170		29	110	0	0	0	0.007291	0	29	110		
SLCO5A1	81796	broad.mit.edu	37	8	70585257	70585257	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:70585257G>A	ENST00000260126.4	-	10	3100	c.2394C>T	c.(2392-2394)ttC>ttT	p.F798F	SLCO5A1_ENST00000530307.1_Silent_p.F743F|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	798						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCTGGGTGCTGAAAGCTGGGC	0.577																																						uc003xyl.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2392-2394)TTC>TTT		solute carrier organic anion transporter family,							104.0	96.0	99.0					8																	70585257		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70585257G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2394C>T	8.37:g.70585257G>A						SLCO5A1_uc010lzb.2_Silent_p.F743F|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	p.F798F	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		10	3101	-	Breast(64;0.0654)		798			Cytoplasmic (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.2394C>T	CCDS6205.1																																																																																				0.577	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3		NM_030958		11	135	0	0	0	0.001368	0	11	135		
SBSPON	157869	broad.mit.edu	37	8	73979650	73979650	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:73979650G>C	ENST00000297354.6	-	5	925	c.721C>G	c.(721-723)Caa>Gaa	p.Q241E	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	241					immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										CAAGTTCCTTGACACCGAGGA	0.373																																						uc003xzf.2		NaN																	0					0						c.(721-723)CAA>GAA		RPE-spondin precursor							103.0	99.0	100.0					8																	73979650		1839	4093	5932	SO:0001583	missense	157869				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:73979650G>C		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.721C>G	8.37:g.73979650G>C	ENSP00000297354:p.Gln241Glu						p.Q241E	NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN			5	926	-			241					A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	c.721C>G	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496653	0.64186	.	.	ENSG00000164764	ENST00000297354	T	0.21191	2.02	5.99	5.99	0.97316	.	0.453195	0.27043	N	0.021210	T	0.23649	0.0572	L	0.46157	1.445	0.44908	D	0.997924	P	0.38370	0.628	B	0.34489	0.184	T	0.01444	-1.1353	10	0.59425	D	0.04	-17.7541	20.1224	0.97967	0.0:0.0:1.0:0.0	.	241	Q8IVN8	RPESP_HUMAN	E	241	ENSP00000297354:Q241E	ENSP00000297354:Q241E	Q	-	1	0	C8orf84	74142204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.844000	0.48246	2.846000	0.97976	0.644000	0.83932	CAA		0.373	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2		NM_153225		6	80	0	0	0	0.004482	0	6	80		
JPH1	56704	broad.mit.edu	37	8	75227753	75227753	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:75227753G>C	ENST00000342232.4	-	2	522	c.482C>G	c.(481-483)aCc>aGc	p.T161S		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	161					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGCCAGCGAGGTACGCAGCGG	0.731																																						uc003yae.2		NaN																	0				ovary(1)	1						c.(481-483)ACC>AGC		junctophilin 1							16.0	16.0	16.0					8																	75227753		2121	4141	6262	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227753G>C	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.482C>G	8.37:g.75227753G>C	ENSP00000344488:p.Thr161Ser					JPH1_uc003yaf.2_Missense_Mutation_p.T161S|JPH1_uc003yag.1_Missense_Mutation_p.T25S	p.T161S	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	522	-	Breast(64;0.00576)		161			Cytoplasmic (Potential).		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.482C>G	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	G	33	5.214299	0.95104	.	.	ENSG00000104369	ENST00000342232	T	0.60672	0.17	4.3	2.48	0.30137	.	0.052668	0.85682	D	0.000000	T	0.53948	0.1828	M	0.71036	2.16	0.58432	D	0.999998	B	0.31730	0.337	B	0.33121	0.158	T	0.51725	-0.8669	10	0.48119	T	0.1	.	9.1603	0.37019	0.081:0.1476:0.7714:0.0	.	161	Q9HDC5	JPH1_HUMAN	S	161	ENSP00000344488:T161S	ENSP00000344488:T161S	T	-	2	0	JPH1	75390308	1.000000	0.71417	0.989000	0.46669	0.970000	0.65996	7.688000	0.84153	0.433000	0.26313	0.563000	0.77884	ACC		0.731	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1				5	48	0	0	0	0.00308	0	5	48		
E2F5	1875	broad.mit.edu	37	8	86121423	86121423	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:86121423C>T	ENST00000416274.2	+	6	696	c.662C>T	c.(661-663)tCa>tTa	p.S221L	E2F5_ENST00000521429.1_Missense_Mutation_p.S48L|E2F5_ENST00000256117.5_Missense_Mutation_p.S222L|E2F5_ENST00000517476.1_Missense_Mutation_p.S60L|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000418930.2_Missense_Mutation_p.S221L	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	221					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						AAGAGTCATTCAGGACCTATC	0.393																																						uc003ycz.3		NaN																	0				ovary(1)	1						c.(661-663)TCA>TTA		E2F transcription factor 5 isoform 1							127.0	126.0	126.0					8																	86121423		1906	4108	6014	SO:0001583	missense	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86121423C>T	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.662C>T	8.37:g.86121423C>T	ENSP00000398124:p.Ser221Leu					E2F5_uc003yda.3_Missense_Mutation_p.S221L|E2F5_uc010mab.2_Missense_Mutation_p.S60L|E2F5_uc003ydb.3_Missense_Mutation_p.S40L	p.S221L	NM_001951	NP_001942	Q15329	E2F5_HUMAN			6	699	+			221					E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.662C>T	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867419	0.72065	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	6.13	6.13	0.99165	.	0.291462	0.34435	N	0.003975	D	0.85323	0.5670	L	0.47716	1.5	0.80722	D	1	P;P;B	0.35700	0.465;0.516;0.382	B;B;B	0.34242	0.178;0.135;0.064	D	0.83705	0.0184	10	0.49607	T	0.09	-6.431	20.8599	0.99761	0.0:1.0:0.0:0.0	.	48;221;221	E5RHD4;Q15329-2;Q15329	.;.;E2F5_HUMAN	L	221;222;221;60;48;57	ENSP00000414312:S221L;ENSP00000256117:S222L;ENSP00000398124:S221L;ENSP00000429120:S60L;ENSP00000428606:S48L;ENSP00000429669:S57L	ENSP00000256117:S222L	S	+	2	0	E2F5	86308675	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.589000	0.61006	2.937000	0.99478	0.650000	0.86243	TCA		0.393	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1		NM_001951		5	38	0	0	0	0.001984	0	5	38		
DECR1	1666	broad.mit.edu	37	8	91029411	91029411	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:91029411C>G	ENST00000220764.2	+	2	217	c.129C>G	c.(127-129)ttC>ttG	p.F43L	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000522161.1_Missense_Mutation_p.F34L	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	43					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AATCTAAATTCTTTTCACCTC	0.333																																						uc003yek.1		NaN																	0					0						c.(127-129)TTC>TTG		2,4-dienoyl CoA reductase 1 precursor							76.0	79.0	78.0					8																	91029411		2203	4300	6503	SO:0001583	missense	1666				fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	g.chr8:91029411C>G	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.129C>G	8.37:g.91029411C>G	ENSP00000220764:p.Phe43Leu					DECR1_uc011lgc.1_Missense_Mutation_p.F34L|DECR1_uc011lgd.1_Intron	p.F43L	NM_001359	NP_001350	Q16698	DECR_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		2	270	+			43					B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	ENST00000220764.2	37	c.129C>G	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204264	0.58234	.	.	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761	D;D;D;D	0.84589	-1.64;-1.87;-1.78;-1.85	5.88	4.1	0.47936	.	0.000000	0.85682	D	0.000000	D	0.83298	0.5224	M	0.68317	2.08	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.11329	0.003;0.006	T	0.79361	-0.1835	10	0.62326	D	0.03	.	12.4382	0.55610	0.0:0.8646:0.0:0.1354	.	34;43	B7Z6B8;Q16698	.;DECR_HUMAN	L	43;21;34;34	ENSP00000220764:F43L;ENSP00000430561:F21L;ENSP00000429779:F34L;ENSP00000427936:F34L	ENSP00000220764:F43L	F	+	3	2	DECR1	91098587	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	3.431000	0.52814	0.836000	0.34901	0.655000	0.94253	TTC		0.333	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1				6	32	0	0	0	0.001168	0	6	32		
TMEM67	91147	broad.mit.edu	37	8	94767349	94767349	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:94767349G>C	ENST00000453321.3	+	1	265	c.207G>C	c.(205-207)caG>caC	p.Q69H	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	69					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GAGCTAACCAGAGGCAAGATG	0.557																																						uc011lgk.1		NaN																	0				ovary(2)	2						c.(205-207)CAG>CAC		meckelin isoform 1							94.0	92.0	92.0					8																	94767349		2203	4300	6503	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94767349G>C	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.207G>C	8.37:g.94767349G>C	ENSP00000389998:p.Gln69His					TMEM67_uc010mau.2_Missense_Mutation_p.Q69H|TMEM67_uc010mav.2_Missense_Mutation_p.Q69H|TMEM67_uc010mat.1_5'UTR|TMEM67_uc010maw.2_Missense_Mutation_p.Q69H|TMEM67_uc003yga.3_5'UTR	p.Q69H	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		1	278	+	Breast(36;4.14e-07)		69					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.207G>C	CCDS6258.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.75|17.75	3.465290|3.465290	0.63513|0.63513	.|.	.|.	ENSG00000164953|ENSG00000164953	ENST00000521517|ENST00000453321;ENST00000453906	.|T;T	.|0.63417	.|-0.04;-0.04	5.35|5.35	4.47|4.47	0.54385|0.54385	.|Growth factor, receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74419|0.74419	0.3714|0.3714	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.978;0.991;0.999	T|T	0.72070|0.72070	-0.4401|-0.4401	5|10	.|0.15066	.|T	.|0.55	-7.4747|-7.4747	11.2067|11.2067	0.48773|0.48773	0.0861:0.0:0.9139:0.0|0.0861:0.0:0.9139:0.0	.|.	.|69;69;69	.|Q5HYA8;F8WCQ6;E5RH38	.|MKS3_HUMAN;.;.	Q|H	67|69	.|ENSP00000389998:Q69H;ENSP00000403035:Q69H	.|ENSP00000314488:Q59H	E|Q	+|+	1|3	0|2	TMEM67|TMEM67	94836525|94836525	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.588000|0.588000	0.36517|0.36517	2.612000|2.612000	0.46343|0.46343	1.483000|1.483000	0.48342|0.48342	0.585000|0.585000	0.79938|0.79938	GAG|CAG		0.557	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2		NM_153704		19	196	0	0	0	0.003954	0	19	196		
INTS8	55656	broad.mit.edu	37	8	95892357	95892357	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:95892357C>T	ENST00000523731.1	+	27	3016	c.2883C>T	c.(2881-2883)atC>atT	p.I961I	CCNE2_ENST00000520509.1_3'UTR|INTS8_ENST00000447247.1_Silent_p.I944I	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	961					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TCAAAGCCATCGGCCAGACAG	0.388																																						uc003yhb.2		NaN																	0					0						c.(2881-2883)ATC>ATT		integrator complex subunit 8							99.0	97.0	98.0					8																	95892357		2203	4300	6503	SO:0001819	synonymous_variant	55656				snRNA processing	integrator complex	protein binding	g.chr8:95892357C>T	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2883C>T	8.37:g.95892357C>T						INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.I771I	p.I961I	NM_017864	NP_060334	Q75QN2	INT8_HUMAN			27	3009	+	Breast(36;1.05e-06)		961					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Silent	SNP	ENST00000523731.1	37	c.2883C>T	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.405900	0.01155	.	.	ENSG00000164941	ENST00000520526	.	.	.	6.02	-4.12	0.03916	.	.	.	.	.	T	0.54759	0.1878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55114	-0.8191	4	.	.	.	-20.9323	10.9733	0.47450	0.1098:0.1157:0.0:0.7744	.	.	.	.	L	766	.	.	S	+	2	0	INTS8	95961533	0.953000	0.32496	0.934000	0.37439	0.139000	0.21198	0.010000	0.13242	-0.652000	0.05408	-0.768000	0.03414	TCG		0.388	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1		NM_017864		5	76	0	0	0	0.00308	0	5	76		
TSPYL5	85453	broad.mit.edu	37	8	98288992	98288992	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:98288992C>T	ENST00000322128.3	-	1	1184	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	361					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)		p.E361*(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TTGTCAGACTCAATGGAGCTG	0.478																																						uc003yhy.2		NaN																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1081-1083)GAG>AAG		TSPY-like 5							144.0	150.0	148.0					8																	98288992		2203	4300	6503	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98288992C>T	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.1081G>A	8.37:g.98288992C>T	ENSP00000322802:p.Glu361Lys						p.E361K	NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN			1	1185	-	Breast(36;2.56e-06)		361					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.1081G>A	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007708	0.75046	.	.	ENSG00000180543	ENST00000322128	T	0.33654	1.4	4.3	3.43	0.39272	.	0.000000	0.33309	N	0.005047	T	0.49795	0.1578	M	0.70787	2.145	0.31372	N	0.68002	P	0.42961	0.795	P	0.55713	0.782	T	0.58008	-0.7712	10	0.72032	D	0.01	-20.8415	8.0702	0.30685	0.0:0.8917:0.0:0.1083	.	361	Q86VY4	TSYL5_HUMAN	K	361	ENSP00000322802:E361K	ENSP00000322802:E361K	E	-	1	0	TSPYL5	98358168	0.863000	0.29885	0.996000	0.52242	0.996000	0.88848	1.589000	0.36644	1.418000	0.47098	0.563000	0.77884	GAG		0.478	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1		NM_033512		19	153	0	0	0	0.010504	0	19	153		
POP1	10940	broad.mit.edu	37	8	99135698	99135698	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:99135698C>G	ENST00000401707.2	+	2	214	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	POP1_ENST00000349693.3_Missense_Mutation_p.Q45E	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	45					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTTCCAAGCTCAAAAACAAGG	0.488																																						uc003yij.3		NaN																	0				ovary(1)|breast(1)	2						c.(133-135)CAA>GAA		processing of precursor 1							84.0	74.0	77.0					8																	99135698		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99135698C>G	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.133C>G	8.37:g.99135698C>G	ENSP00000385787:p.Gln45Glu					POP1_uc011lgv.1_Missense_Mutation_p.Q45E|POP1_uc003yik.2_Missense_Mutation_p.Q45E	p.Q45E	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		2	233	+	Breast(36;1.78e-06)		45					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.133C>G	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	C	9.782	1.175697	0.21704	.	.	ENSG00000104356	ENST00000522319;ENST00000401707;ENST00000349693	T;T;T	0.44083	0.93;1.27;1.27	4.87	3.03	0.35002	.	0.437376	0.20244	N	0.096240	T	0.27384	0.0672	L	0.32530	0.975	0.09310	N	1	P	0.39782	0.688	B	0.33750	0.169	T	0.12066	-1.0562	10	0.62326	D	0.03	-10.7104	7.8071	0.29209	0.0:0.7485:0.1628:0.0887	.	45	Q99575	POP1_HUMAN	E	45	ENSP00000428945:Q45E;ENSP00000385787:Q45E;ENSP00000339529:Q45E	ENSP00000339529:Q45E	Q	+	1	0	POP1	99204874	0.009000	0.17119	0.189000	0.23252	0.711000	0.40976	0.720000	0.25896	0.561000	0.29186	0.551000	0.68910	CAA		0.488	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1		NM_015029		4	22	0	0	0	0.000602	0	4	22		
POP1	10940	broad.mit.edu	37	8	99170408	99170408	+	Missense_Mutation	SNP	C	C	T	rs372595102	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:99170408C>T	ENST00000401707.2	+	16	3065	c.2984C>T	c.(2983-2985)tCc>tTc	p.S995F	POP1_ENST00000349693.3_Missense_Mutation_p.S995F	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	995					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GATATGCTGTCCAGCCAGCCT	0.547													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14317	0.0		0.0	False		,,,				2504	0.0					uc003yij.3		NaN																	0				ovary(1)|breast(1)	2						c.(2983-2985)TCC>TTC		processing of precursor 1		C	PHE/SER,PHE/SER,PHE/SER	1,4405	2.1+/-5.4	0,1,2202	77.0	75.0	76.0		2984,2984,2984	-2.1	0.0	8		76	0,8600		0,0,4300	no	missense,missense,missense	POP1	NM_001145860.1,NM_001145861.1,NM_015029.2	155,155,155	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	995/1025,995/1025,995/1025	99170408	1,13005	2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99170408C>T	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2984C>T	8.37:g.99170408C>T	ENSP00000385787:p.Ser995Phe					POP1_uc011lgv.1_Missense_Mutation_p.S995F|POP1_uc003yik.2_Missense_Mutation_p.S995F	p.S995F	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		16	3084	+	Breast(36;1.78e-06)		995					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.2984C>T	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	C	2.690	-0.273273	0.05716	2.27E-4	0.0	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.15834	2.39;2.39	5.67	-2.14	0.07123	.	0.947808	0.08930	N	0.873111	T	0.15003	0.0362	M	0.72118	2.19	0.09310	N	1	B	0.32188	0.359	B	0.30495	0.116	T	0.25882	-1.0119	10	0.30854	T	0.27	0.0157	2.1661	0.03837	0.2168:0.206:0.3859:0.1913	.	995	Q99575	POP1_HUMAN	F	995	ENSP00000385787:S995F;ENSP00000339529:S995F	ENSP00000339529:S995F	S	+	2	0	POP1	99239584	0.000000	0.05858	0.002000	0.10522	0.810000	0.45777	0.945000	0.29056	-0.830000	0.04262	-0.312000	0.09012	TCC		0.547	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1		NM_015029		20	167	0	0	0	0.007413	0	20	167		
KCNS2	3788	broad.mit.edu	37	8	99440621	99440621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:99440621G>C	ENST00000287042.4	+	2	764	c.414G>C	c.(412-414)caG>caC	p.Q138H	KCNS2_ENST00000521839.1_Missense_Mutation_p.Q138H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	138					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGGACGAGCAGAGTGACCAGG	0.577																																					Pancreas(138;844 2489 9202 24627)	uc003yin.2		NaN																	0				ovary(1)	1						c.(412-414)CAG>CAC		potassium voltage-gated channel,							98.0	106.0	103.0					8																	99440621		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440621G>C	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.414G>C	8.37:g.99440621G>C	ENSP00000287042:p.Gln138His						p.Q138H	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	764	+	Breast(36;2.4e-06)		138			Cytoplasmic (Potential).		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.414G>C	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464235	0.26335	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96587	-4.06;-4.06	5.31	4.43	0.53597	.	0.201868	0.40064	N	0.001184	D	0.91109	0.7201	L	0.29908	0.895	0.35266	D	0.779993	B	0.21309	0.054	B	0.17433	0.018	D	0.88552	0.3117	10	0.48119	T	0.1	.	5.4796	0.16717	0.2138:0.1632:0.6229:0.0	.	138	Q9ULS6	KCNS2_HUMAN	H	138	ENSP00000287042:Q138H;ENSP00000430712:Q138H	ENSP00000287042:Q138H	Q	+	3	2	KCNS2	99509797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.679000	0.25291	2.470000	0.83445	0.563000	0.77884	CAG		0.577	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1		NM_020697		5	57	0	0	0	0.001984	0	5	57		
RGS22	26166	broad.mit.edu	37	8	101014551	101014551	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:101014551C>G	ENST00000360863.6	-	18	2863	c.2669G>C	c.(2668-2670)aGa>aCa	p.R890T	RGS22_ENST00000523437.1_Missense_Mutation_p.R878T|RGS22_ENST00000519421.1_5'UTR|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000523287.1_Missense_Mutation_p.R709T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	890	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTAAGTTATTCTCCGGAACTG	0.323																																						uc003yjb.1		NaN																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(2668-2670)AGA>ACA		regulator of G-protein signaling 22							87.0	78.0	81.0					8																	101014551		1819	4082	5901	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101014551C>G	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2669G>C	8.37:g.101014551C>G	ENSP00000354109:p.Arg890Thr					RGS22_uc003yja.1_Missense_Mutation_p.R709T|RGS22_uc003yjc.1_Missense_Mutation_p.R878T|RGS22_uc011lgz.1_RNA	p.R890T	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		18	2864	-			890			RGS 1.		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.2669G>C	CCDS43758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.53|11.53	1.666764|1.666764	0.29604|0.29604	.|.	.|.	ENSG00000132554|ENSG00000132554	ENST00000427793|ENST00000360863;ENST00000523287;ENST00000523437;ENST00000517828	.|T;T;T;T	.|0.22336	.|1.96;1.96;1.96;1.96	5.4|5.4	4.52|4.52	0.55395|0.55395	.|Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	.|0.182580	.|0.45867	.|D	.|0.000329	T|T	0.26304|0.26304	0.0642|0.0642	M|M	0.76002|0.76002	2.32|2.32	0.33721|0.33721	D|D	0.617043|0.617043	.|B;B;B	.|0.30686	.|0.062;0.062;0.29	.|B;B;B	.|0.31495	.|0.119;0.119;0.131	T|T	0.42464|0.42464	-0.9450|-0.9450	6|10	0.87932|0.72032	D|D	0|0.01	.|.	10.4769|10.4769	0.44670|0.44670	0.0:0.786:0.1362:0.0778|0.0:0.786:0.1362:0.0778	.|.	.|878;890;709	.|A8K944;Q8NE09;G3V112	.|.;RGS22_HUMAN;.	Q|T	878|890;709;878;205	.|ENSP00000354109:R890T;ENSP00000429382:R709T;ENSP00000428212:R878T;ENSP00000427754:R205T	ENSP00000389751:E878Q|ENSP00000354109:R890T	E|R	-|-	1|2	0|0	RGS22|RGS22	101083727|101083727	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.279000|0.279000	0.26890|0.26890	2.098000|2.098000	0.41757|0.41757	1.404000|1.404000	0.46819|0.46819	-0.156000|-0.156000	0.13503|0.13503	GAA|AGA		0.323	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1		NM_015668		6	29	0	0	0	0.00308	0	6	29		
PKHD1L1	93035	broad.mit.edu	37	8	110510690	110510690	+	Splice_Site	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:110510690G>C	ENST00000378402.5	+	66	10703		c.e66-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTCCAAACAGAGCTCATTAA	0.423										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.e66-1		fibrocystin L precursor							115.0	105.0	108.0					8																	110510690		1829	4089	5918	SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110510690G>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10600-1G>C	8.37:g.110510690G>C		HNSCC(38;0.096)					p.S3534_splice	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		66	10704	+								Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37	c.10600_splice	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597337	0.66332	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4374	0.67290	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKHD1L1	110579866	1.000000	0.71417	0.981000	0.43875	0.938000	0.57974	6.668000	0.74457	2.679000	0.91253	0.655000	0.94253	.		0.423	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531	Intron	11	39	0	0	0	0.008291	0	11	39		
COL14A1	7373	broad.mit.edu	37	8	121383405	121383405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:121383405C>T	ENST00000297848.3	+	48	5596	c.5326C>T	c.(5326-5328)Cag>Tag	p.Q1776*	COL14A1_ENST00000247781.3_Nonsense_Mutation_p.Q1681*	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCATCCAGATCAGCCAGAGTT	0.522																																						uc003yox.2		NaN																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(5326-5328)CAG>TAG		collagen, type XIV, alpha 1 precursor							131.0	125.0	127.0					8																	121383405		2203	4300	6503	SO:0001587	stop_gained	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121383405C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.5326C>T	8.37:g.121383405C>T	ENSP00000297848:p.Gln1776*						p.Q1776*	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		48	5591	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1776			Triple-helical region 2 (COL1).			Nonsense_Mutation	SNP	ENST00000297848.3	37	c.5326C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	45	11.540236	0.99574	.	.	ENSG00000187955	ENST00000297848;ENST00000247781	.	.	.	5.34	4.46	0.54185	.	0.119023	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.335	0.66584	0.0:0.8521:0.1479:0.0	.	.	.	.	X	1776;1681	.	ENSP00000247781:Q1681X	Q	+	1	0	COL14A1	121452586	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.008000	0.40893	1.481000	0.48307	0.655000	0.94253	CAG		0.522	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2		NM_021110		18	199	0	0	0	0.004656	0	18	199		
MTBP	27085	broad.mit.edu	37	8	121514760	121514760	+	Silent	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:121514760A>G	ENST00000305949.1	+	15	1683	c.1638A>G	c.(1636-1638)tcA>tcG	p.S546S		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	546	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTAATTCCTCAAGTCTAATGG	0.299																																						uc003ypc.1		NaN																	0				skin(2)|ovary(1)	3						c.(1636-1638)TCA>TCG		Mdm2, transformed 3T3 cell double minute 2, p53							54.0	56.0	55.0					8																	121514760		2203	4296	6499	SO:0001819	synonymous_variant	27085				cell cycle arrest			g.chr8:121514760A>G		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1638A>G	8.37:g.121514760A>G							p.S546S	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		15	1683	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		546			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Silent	SNP	ENST00000305949.1	37	c.1638A>G	CCDS6333.1																																																																																				0.299	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1		NM_022045		3	14	0	0	0	0.004672	0	3	14		
RNF139	11236	broad.mit.edu	37	8	125487428	125487428	+	Silent	SNP	C	C	G	rs147204700		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:125487428C>G	ENST00000303545.3	+	1	450	c.78C>G	c.(76-78)ctC>ctG	p.L26L	RNF139-AS1_ENST00000499418.2_lincRNA	NM_007218.3	NP_009149.2			ring finger protein 139											breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGTGGCGCTCCGGGTGCCCT	0.662																																						uc003yrc.2		NaN																	0				kidney(1)	1						c.(76-78)CTC>CTG		ring finger protein 139							50.0	54.0	53.0					8																	125487428		2203	4300	6503	SO:0001819	synonymous_variant	11236	Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125487428C>G	AF064801	CCDS6350.1	8q24	2013-01-09			ENSG00000170881	ENSG00000170881		"""RING-type (C3HC4) zinc fingers"""	17023	protein-coding gene	gene with protein product		603046				9689122	Standard	NM_007218		Approved	TRC8, RCA1, HRCA1	uc003yrc.3	Q8WU17	OTTHUMG00000165072	ENST00000303545.3:c.78C>G	8.37:g.125487428C>G						uc003yrb.2_5'Flank	p.L26L	NM_007218	NP_009149	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	421	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		26						Silent	SNP	ENST00000303545.3	37	c.78C>G	CCDS6350.1																																																																																				0.662	RNF139-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381692.1		NM_007218		12	102	0	0	0	0.00245	0	12	102		
RNF139	11236	broad.mit.edu	37	8	125487452	125487452	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:125487452C>G	ENST00000303545.3	+	1	474	c.102C>G	c.(100-102)atC>atG	p.I34M	RNF139-AS1_ENST00000499418.2_lincRNA	NM_007218.3	NP_009149.2			ring finger protein 139											breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTACATCATCGACGCCATCT	0.637																																						uc003yrc.2		NaN																	0				kidney(1)	1						c.(100-102)ATC>ATG		ring finger protein 139							76.0	79.0	78.0					8																	125487452		2203	4300	6503	SO:0001583	missense	11236	Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125487452C>G	AF064801	CCDS6350.1	8q24	2013-01-09			ENSG00000170881	ENSG00000170881		"""RING-type (C3HC4) zinc fingers"""	17023	protein-coding gene	gene with protein product		603046				9689122	Standard	NM_007218		Approved	TRC8, RCA1, HRCA1	uc003yrc.3	Q8WU17	OTTHUMG00000165072	ENST00000303545.3:c.102C>G	8.37:g.125487452C>G	ENSP00000304051:p.Ile34Met					uc003yrb.2_5'Flank	p.I34M	NM_007218	NP_009149	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	445	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		34						Missense_Mutation	SNP	ENST00000303545.3	37	c.102C>G	CCDS6350.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455787	0.63401	.	.	ENSG00000170881	ENST00000303545	T	0.26660	1.72	4.44	4.44	0.53790	.	0.144445	0.45361	D	0.000377	T	0.40546	0.1121	L	0.58101	1.795	0.41025	D	0.985119	D	0.54772	0.968	P	0.57679	0.825	T	0.16335	-1.0406	10	0.39692	T	0.17	-8.8388	14.1222	0.65195	0.0:1.0:0.0:0.0	.	34	Q8WU17	RN139_HUMAN	M	34	ENSP00000304051:I34M	ENSP00000304051:I34M	I	+	3	3	RNF139	125556633	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	2.597000	0.46214	2.305000	0.77605	0.561000	0.74099	ATC		0.637	RNF139-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381692.1		NM_007218		20	169	0	0	0	0.004656	0	20	169		
RNF139	11236	broad.mit.edu	37	8	125487527	125487527	+	Silent	SNP	C	C	G	rs142523795		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:125487527C>G	ENST00000303545.3	+	1	549	c.177C>G	c.(175-177)ctC>ctG	p.L59L	RNF139-AS1_ENST00000499418.2_lincRNA	NM_007218.3	NP_009149.2			ring finger protein 139											breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCTCCGGCTCTTTGGTAAGG	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15127	0.0		0.0	False		,,,				2504	0.0					uc003yrc.2		NaN																	0				kidney(1)	1						c.(175-177)CTC>CTG		ring finger protein 139		C		1,4405	2.1+/-5.4	0,1,2202	70.0	72.0	71.0		177	2.5	1.0	8	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	RNF139	NM_007218.3		0,1,6502	GG,GC,CC		0.0,0.0227,0.0077		59/665	125487527	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11236	Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125487527C>G	AF064801	CCDS6350.1	8q24	2013-01-09			ENSG00000170881	ENSG00000170881		"""RING-type (C3HC4) zinc fingers"""	17023	protein-coding gene	gene with protein product		603046				9689122	Standard	NM_007218		Approved	TRC8, RCA1, HRCA1	uc003yrc.3	Q8WU17	OTTHUMG00000165072	ENST00000303545.3:c.177C>G	8.37:g.125487527C>G						uc003yrb.2_5'Flank	p.L59L	NM_007218	NP_009149	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	520	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		59			Helical; (Potential).			Silent	SNP	ENST00000303545.3	37	c.177C>G	CCDS6350.1																																																																																				0.627	RNF139-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381692.1		NM_007218		16	167	0	0	0	0.010504	0	16	167		
EFR3A	23167	broad.mit.edu	37	8	132982779	132982779	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:132982779G>C	ENST00000254624.5	+	10	1273	c.1048G>C	c.(1048-1050)Gaa>Caa	p.E350Q	EFR3A_ENST00000519656.1_Missense_Mutation_p.E314Q|EFR3A_ENST00000334503.4_Missense_Mutation_p.E350Q	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	350						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.S348fs*15(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCTCAGCGTTGAATTCGAAGC	0.393																																						uc003yte.2		NaN																	1	Deletion - Frameshift(1)	p.S348fs*15(1)	breast(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1048-1050)GAA>CAA		EFR3 homolog A							101.0	94.0	96.0					8																	132982779		2203	4300	6503	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132982779G>C	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1048G>C	8.37:g.132982779G>C	ENSP00000254624:p.Glu350Gln						p.E350Q	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		10	1249	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		350					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.1048G>C	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729667	0.69074	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.30448	1.53;1.53;1.53	5.54	4.66	0.58398	Armadillo-like helical (1);Armadillo-type fold (1);	0.091882	0.64402	D	0.000001	T	0.28067	0.0692	N	0.22421	0.69	0.42212	D	0.991819	B	0.28512	0.214	B	0.37015	0.239	T	0.14476	-1.0471	10	0.59425	D	0.04	-22.1328	14.883	0.70547	0.0:0.0:0.8556:0.1444	.	350	Q14156	EFR3A_HUMAN	Q	350;350;350;314	ENSP00000254624:E350Q;ENSP00000334769:E350Q;ENSP00000428086:E314Q	ENSP00000254624:E350Q	E	+	1	0	EFR3A	133051961	1.000000	0.71417	0.949000	0.38748	0.981000	0.71138	9.473000	0.97714	1.337000	0.45525	0.591000	0.81541	GAA		0.393	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1		NM_015137		3	30	0	0	0	0.004672	0	3	30		
PHF20L1	51105	broad.mit.edu	37	8	133848934	133848934	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:133848934G>C	ENST00000395386.2	+	16	2358	c.2059G>C	c.(2059-2061)Gag>Cag	p.E687Q	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.E74Q|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.E662Q	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	687							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATGTATTTGTGAGATGGATGA	0.408																																						uc003ytt.2		NaN																	0				ovary(2)	2						c.(2059-2061)GAG>CAG		PHD finger protein 20-like 1 isoform 1							185.0	177.0	180.0					8																	133848934		1969	4152	6121	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133848934G>C	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2059G>C	8.37:g.133848934G>C	ENSP00000378784:p.Glu687Gln					PHF20L1_uc011lja.1_Missense_Mutation_p.E661Q	p.E687Q	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		16	2384	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		687			PHD-type.		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.2059G>C	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795033	0.90453	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T;T	0.62788	-0.0;-0.0;-0.0	5.05	5.05	0.67936	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.56097	U	0.000040	T	0.78805	0.4341	M	0.71871	2.18	0.53005	D	0.999969	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.80446	-0.1379	10	0.59425	D	0.04	-16.8459	17.7399	0.88404	0.0:0.0:1.0:0.0	.	662;687	F8W9L8;A8MW92	.;P20L1_HUMAN	Q	687;74;662	ENSP00000378784:E687Q;ENSP00000220847:E74Q;ENSP00000378788:E662Q	ENSP00000220847:E74Q	E	+	1	0	PHF20L1	133918116	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	9.009000	0.93606	2.503000	0.84419	0.544000	0.68410	GAG		0.408	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3		NM_016018		6	54	0	0	0	0.004482	0	6	54		
WISP1	8840	broad.mit.edu	37	8	134225348	134225348	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:134225348G>A	ENST00000250160.6	+	2	417	c.311G>A	c.(310-312)aGc>aAc	p.S104N	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Missense_Mutation_p.S104N|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Missense_Mutation_p.S104N	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	104	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGTGACTACAGCGGGGACCGC	0.612																																						uc003yub.2		NaN																	0				central_nervous_system(1)|kidney(1)	2						c.(310-312)AGC>AAC		WNT1 inducible signaling pathway protein 1							61.0	62.0	62.0					8																	134225348		2203	4300	6503	SO:0001583	missense	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134225348G>A	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.311G>A	8.37:g.134225348G>A	ENSP00000250160:p.Ser104Asn					WISP1_uc003yuc.2_Missense_Mutation_p.S104N|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Missense_Mutation_p.S104N|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_RNA	p.S104N	NM_003882	NP_003873	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		2	387	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		104			IGFBP N-terminal.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.311G>A	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544183	0.86022	.	.	ENSG00000104415	ENST00000250160;ENST00000517423;ENST00000220856	T;T;T	0.64260	-0.09;-0.09;-0.09	5.27	5.27	0.74061	Insulin-like growth factor-binding protein, IGFBP (2);	0.000000	0.85682	D	0.000000	T	0.81781	0.4895	M	0.86864	2.845	0.80722	D	1	D;P;P	0.89917	1.0;0.519;0.935	D;B;P	0.83275	0.996;0.181;0.494	T	0.82155	-0.0597	10	0.36615	T	0.2	-19.7434	17.8633	0.88789	0.0:0.0:1.0:0.0	.	104;104;104	E7EMM5;O95388-2;O95388	.;.;WISP1_HUMAN	N	104	ENSP00000250160:S104N;ENSP00000427744:S104N;ENSP00000220856:S104N	ENSP00000220856:S104N	S	+	2	0	WISP1	134294530	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.794000	0.85869	2.460000	0.83146	0.542000	0.68232	AGC		0.612	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2		NM_003882		32	252	0	0	0	0.00361	0	32	252		
PTK2	5747	broad.mit.edu	37	8	141810664	141810664	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:141810664C>A	ENST00000522684.1	-	12	1216	c.987G>T	c.(985-987)gtG>gtT	p.V329V	PTK2_ENST00000517887.1_Silent_p.V373V|PTK2_ENST00000519419.1_Silent_p.V373V|PTK2_ENST00000538769.1_5'Flank|PTK2_ENST00000340930.3_Silent_p.V329V|PTK2_ENST00000395218.2_Silent_p.V329V|PTK2_ENST00000521059.1_Silent_p.V329V|PTK2_ENST00000535192.1_Silent_p.V329V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	329	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATGGTGCCGTCACTGTCAGAG	0.468																																						uc003yvu.2		NaN																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(985-987)GTG>GTT		PTK2 protein tyrosine kinase 2 isoform a							106.0	95.0	99.0					8																	141810664		2203	4300	6503	SO:0001819	synonymous_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141810664C>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.987G>T	8.37:g.141810664C>A						PTK2_uc011ljq.1_5'UTR|PTK2_uc003yvp.2_5'UTR|PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Silent_p.V228V|PTK2_uc003yvs.2_Silent_p.V329V|PTK2_uc003yvt.2_Silent_p.V351V|PTK2_uc003yvv.2_Silent_p.V216V|PTK2_uc011ljr.1_Silent_p.V329V	p.V329V	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		12	1217	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	329			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	37	c.987G>T	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365375	0.24684	.	.	ENSG00000169398	ENST00000519654	.	.	.	6.02	5.14	0.70334	.	.	.	.	.	T	0.73651	0.3614	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73442	-0.3981	4	.	.	.	.	17.3492	0.87318	0.0:0.875:0.125:0.0	.	.	.	.	Y	340	.	.	D	-	1	0	PTK2	141879846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.004000	0.29822	1.547000	0.49401	0.655000	0.94253	GAC		0.468	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5		NM_005607		6	66	1	0	3.59834e-05	0.001168	3.71589e-05	6	66		
EEF1D	1936	broad.mit.edu	37	8	144668986	144668986	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144668986C>T	ENST00000529272.1	-	2	430	c.30G>A	c.(28-30)aaG>aaA	p.K10K	EEF1D_ENST00000317198.6_Silent_p.K10K|EEF1D_ENST00000423316.2_Silent_p.K376K|EEF1D_ENST00000419152.2_Silent_p.K10K|EEF1D_ENST00000442189.2_Silent_p.K376K|EEF1D_ENST00000524624.1_Silent_p.K10K|EEF1D_ENST00000528610.1_Silent_p.K10K|EEF1D_ENST00000531621.1_Silent_p.K10K|EEF1D_ENST00000532741.1_Silent_p.K426K|EEF1D_ENST00000532400.1_Silent_p.K10K|EEF1D_ENST00000526838.1_Silent_p.K10K|EEF1D_ENST00000395119.3_Silent_p.K10K			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	10					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGAACCAGATCTTCTCATGTG	0.547																																						uc011lki.1		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(28-30)AAG>AAA		eukaryotic translation elongation factor 1 delta							130.0	129.0	129.0					8																	144668986		2203	4300	6503	SO:0001819	synonymous_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144668986C>T	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.30G>A	8.37:g.144668986C>T						EEF1D_uc003yyp.1_Silent_p.K376K|EEF1D_uc003yyq.1_Silent_p.K426K|EEF1D_uc011lkj.1_Silent_p.K375K|EEF1D_uc003yyr.2_Silent_p.K376K|EEF1D_uc003yyt.2_Silent_p.K376K|EEF1D_uc011lkk.1_Silent_p.K10K|EEF1D_uc003yys.2_Silent_p.K10K|EEF1D_uc003yyv.2_Silent_p.K10K|EEF1D_uc003yyu.2_Silent_p.K10K|EEF1D_uc011lkl.1_Silent_p.K10K	p.K10K	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		2	299	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		10					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	c.30G>A	CCDS6405.1																																																																																				0.547	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2		NM_032378		13	251	0	0	0	0.00499	0	13	251		
ZNF623	9831	broad.mit.edu	37	8	144733392	144733392	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144733392G>C	ENST00000501748.2	+	1	1439	c.1350G>C	c.(1348-1350)caG>caC	p.Q450H	ZNF623_ENST00000526926.1_Missense_Mutation_p.Q410H|ZNF623_ENST00000458270.2_Missense_Mutation_p.Q410H	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	450					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)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCTGCACCAGATTATTCACA	0.463																																						uc003yzd.2		NaN																	0					0						c.(1348-1350)CAG>CAC		zinc finger protein 623 isoform 1							101.0	96.0	98.0					8																	144733392		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144733392G>C	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1350G>C	8.37:g.144733392G>C	ENSP00000445979:p.Gln450His					ZNF623_uc011lkp.1_Missense_Mutation_p.Q410H|ZNF623_uc003yzc.2_Missense_Mutation_p.Q410H	p.Q450H	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	1439	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		450			C2H2-type 12.		A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.1350G>C	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423456	0.62733	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.36520	1.25;1.25;2.21	4.65	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50051	0.1593	L	0.41573	1.285	0.30873	N	0.732218	D	0.76494	0.999	D	0.66196	0.942	T	0.52586	-0.8556	9	0.54805	T	0.06	-10.357	15.3855	0.74695	0.0:0.0:1.0:0.0	.	450	O75123	ZN623_HUMAN	H	410;410;410;450;450	ENSP00000435232:Q410H;ENSP00000411139:Q410H;ENSP00000445979:Q450H	ENSP00000330358:Q410H	Q	+	3	2	ZNF623	144804535	0.019000	0.18553	0.752000	0.31206	0.828000	0.46876	1.921000	0.40035	2.289000	0.77006	0.491000	0.48974	CAG		0.463	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3		NM_014789		13	96	0	0	0	0.00499	0	13	96		
EPPK1	83481	broad.mit.edu	37	8	144947098	144947098	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144947098C>T	ENST00000525985.1	-	2	395	c.324G>A	c.(322-324)ctG>ctA	p.L108L				P58107	EPIPL_HUMAN	epiplakin 1	108						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTTCTCCTTCAGCTCCAGCC	0.677																																						uc003zaa.1		NaN																	0				pancreas(1)|skin(1)	2						c.(322-324)CTG>CTA		epiplakin 1							22.0	27.0	25.0					8																	144947098		2034	4183	6217	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144947098C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.324G>A	8.37:g.144947098C>T							p.L108L	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	337	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		108			Plectin 2.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.324G>A																																																																																					0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308		5	78	0	0	0	0.001168	0	5	78		
PLEC	5339	broad.mit.edu	37	8	144995185	144995185	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144995185G>T	ENST00000322810.4	-	32	9384	c.9215C>A	c.(9214-9216)gCa>gAa	p.A3072E	PLEC_ENST00000436759.2_Missense_Mutation_p.A2962E|PLEC_ENST00000357649.2_Missense_Mutation_p.A2939E|PLEC_ENST00000354589.3_Missense_Mutation_p.A2935E|PLEC_ENST00000527096.1_Missense_Mutation_p.A2958E|PLEC_ENST00000345136.3_Missense_Mutation_p.A2935E|PLEC_ENST00000356346.3_Missense_Mutation_p.A2921E|PLEC_ENST00000354958.2_Missense_Mutation_p.A2913E|PLEC_ENST00000398774.2_Missense_Mutation_p.A2903E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3072	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGCTGCTCTGCCGTGAAGTA	0.597																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(9214-9216)GCA>GAA		plectin isoform 1							56.0	63.0	61.0					8																	144995185		2179	4284	6463	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144995185G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9215C>A	8.37:g.144995185G>T	ENSP00000323856:p.Ala3072Glu					PLEC_uc003zab.1_Missense_Mutation_p.A2935E|PLEC_uc003zac.1_Missense_Mutation_p.A2939E|PLEC_uc003zad.2_Missense_Mutation_p.A2935E|PLEC_uc003zae.1_Missense_Mutation_p.A2903E|PLEC_uc003zag.1_Missense_Mutation_p.A2913E|PLEC_uc003zah.2_Missense_Mutation_p.A2921E|PLEC_uc003zaj.2_Missense_Mutation_p.A2962E	p.A3072E	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	9385	-			3072			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9215C>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	7.611	0.674712	0.14841	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.72835	-0.66;-0.66;-0.69;-0.69;-0.68;-0.66;-0.66;-0.66;-0.66	4.82	1.21	0.21127	.	0.282341	0.27509	N	0.019041	T	0.23766	0.0575	N	0.00067	-2.295	0.21386	N	0.999705	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	T	0.46624	-0.9178	10	0.02654	T	1	.	12.591	0.56443	0.0:0.0:0.4446:0.5554	.	2962;2921;2913;3072;2903;2935;2939;2935	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	E	2935;2939;2935;2903;3072;2913;2921;2962;2958	ENSP00000344848:A2935E;ENSP00000350277:A2939E;ENSP00000346602:A2935E;ENSP00000381756:A2903E;ENSP00000323856:A3072E;ENSP00000347044:A2913E;ENSP00000348702:A2921E;ENSP00000388180:A2962E;ENSP00000434583:A2958E	ENSP00000323856:A3072E	A	-	2	0	PLEC	145067173	0.989000	0.36119	0.002000	0.10522	0.612000	0.37316	2.542000	0.45744	0.498000	0.27948	0.448000	0.29417	GCA		0.597	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		64	160	1	0	3.76054e-38	0.00361	4.07156e-38	64	160		
PLEC	5339	broad.mit.edu	37	8	144998327	144998327	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144998327C>T	ENST00000322810.4	-	31	6350	c.6181G>A	c.(6181-6183)Gag>Aag	p.E2061K	PLEC_ENST00000436759.2_Missense_Mutation_p.E1951K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1928K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1924K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1947K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1924K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1910K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1902K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1892K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2061	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCTCCTCCTCCACCTGCCGC	0.697																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6181-6183)GAG>AAG		plectin isoform 1							15.0	18.0	17.0					8																	144998327		2179	4256	6435	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144998327C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6181G>A	8.37:g.144998327C>T	ENSP00000323856:p.Glu2061Lys					PLEC_uc003zab.1_Missense_Mutation_p.E1924K|PLEC_uc003zac.1_Missense_Mutation_p.E1928K|PLEC_uc003zad.2_Missense_Mutation_p.E1924K|PLEC_uc003zae.1_Missense_Mutation_p.E1892K|PLEC_uc003zag.1_Missense_Mutation_p.E1902K|PLEC_uc003zah.2_Missense_Mutation_p.E1910K|PLEC_uc003zaj.2_Missense_Mutation_p.E1951K	p.E2061K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6351	-			2061			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.6181G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638520	0.67130	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06	4.28	4.28	0.50868	.	0.000000	0.64402	U	0.000011	D	0.95481	0.8532	M	0.69823	2.125	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.997;0.999;0.999;0.998;0.999	D;D;D;D;D;D;D;D	0.83275	0.996;0.991;0.991;0.98;0.996;0.996;0.994;0.996	D	0.96035	0.9020	10	0.72032	D	0.01	.	16.5144	0.84295	0.0:1.0:0.0:0.0	.	1951;1910;1902;2061;1892;1924;1928;1924	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	1924;1928;1924;1892;2061;1902;1910;1951;1947	ENSP00000344848:E1924K;ENSP00000350277:E1928K;ENSP00000346602:E1924K;ENSP00000381756:E1892K;ENSP00000323856:E2061K;ENSP00000347044:E1902K;ENSP00000348702:E1910K;ENSP00000388180:E1951K;ENSP00000434583:E1947K	ENSP00000323856:E2061K	E	-	1	0	PLEC	145070315	0.997000	0.39634	1.000000	0.80357	0.967000	0.64934	4.648000	0.61425	2.220000	0.72140	0.549000	0.68633	GAG		0.697	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		8	78	0	0	0	0.006214	0	8	78		
PLEC	5339	broad.mit.edu	37	8	145007044	145007044	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145007044C>G	ENST00000322810.4	-	14	2234	c.2065G>C	c.(2065-2067)Gag>Cag	p.E689Q	PLEC_ENST00000436759.2_Missense_Mutation_p.E579Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E556Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E552Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E575Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E552Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E538Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E530Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E520Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	689	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCTGCGCCTCCACGCTGGGC	0.677																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(2065-2067)GAG>CAG		plectin isoform 1							21.0	24.0	23.0					8																	145007044		2074	4200	6274	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145007044C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2065G>C	8.37:g.145007044C>G	ENSP00000323856:p.Glu689Gln					PLEC_uc003zab.1_Missense_Mutation_p.E552Q|PLEC_uc003zac.1_Missense_Mutation_p.E556Q|PLEC_uc003zad.2_Missense_Mutation_p.E552Q|PLEC_uc003zae.1_Missense_Mutation_p.E520Q|PLEC_uc003zag.1_Missense_Mutation_p.E530Q|PLEC_uc003zah.2_Missense_Mutation_p.E538Q|PLEC_uc003zaj.2_Missense_Mutation_p.E579Q	p.E689Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			14	2235	-			689			Spectrin 1.|Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.2065G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392486	0.62066	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51	5.12	5.12	0.69794	.	0.000000	0.64402	U	0.000006	D	0.95188	0.8440	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D;D	0.60575	0.988;0.988;0.988;0.98;0.988;0.988;0.988;0.988	P;P;P;P;P;P;P;P	0.54140	0.743;0.743;0.743;0.557;0.743;0.743;0.743;0.743	D	0.95733	0.8776	10	0.87932	D	0	.	17.3215	0.87238	0.0:1.0:0.0:0.0	.	579;538;530;689;520;552;556;552	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	552;556;552;520;689;530;538;579;575;596	ENSP00000344848:E552Q;ENSP00000350277:E556Q;ENSP00000346602:E552Q;ENSP00000381756:E520Q;ENSP00000323856:E689Q;ENSP00000347044:E530Q;ENSP00000348702:E538Q;ENSP00000388180:E579Q;ENSP00000434583:E575Q;ENSP00000437303:E596Q	ENSP00000323856:E689Q	E	-	1	0	PLEC	145079032	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.389000	0.79806	2.390000	0.81377	0.643000	0.83706	GAG		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		5	77	0	0	0	0.001984	0	5	77		
PLEC	5339	broad.mit.edu	37	8	145007080	145007080	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145007080C>T	ENST00000322810.4	-	14	2198	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N	PLEC_ENST00000436759.2_Missense_Mutation_p.D567N|PLEC_ENST00000357649.2_Missense_Mutation_p.D544N|PLEC_ENST00000354589.3_Missense_Mutation_p.D540N|PLEC_ENST00000527096.1_Missense_Mutation_p.D563N|PLEC_ENST00000345136.3_Missense_Mutation_p.D540N|PLEC_ENST00000356346.3_Missense_Mutation_p.D526N|PLEC_ENST00000354958.2_Missense_Mutation_p.D518N|PLEC_ENST00000398774.2_Missense_Mutation_p.D508N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	677	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCAGCGCCATCCACACGGTGC	0.662																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(2029-2031)GAT>AAT		plectin isoform 1							24.0	28.0	26.0					8																	145007080		2075	4212	6287	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145007080C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2029G>A	8.37:g.145007080C>T	ENSP00000323856:p.Asp677Asn					PLEC_uc003zab.1_Missense_Mutation_p.D540N|PLEC_uc003zac.1_Missense_Mutation_p.D544N|PLEC_uc003zad.2_Missense_Mutation_p.D540N|PLEC_uc003zae.1_Missense_Mutation_p.D508N|PLEC_uc003zag.1_Missense_Mutation_p.D518N|PLEC_uc003zah.2_Missense_Mutation_p.D526N|PLEC_uc003zaj.2_Missense_Mutation_p.D567N	p.D677N	NM_201380	NP_958782	Q15149	PLEC_HUMAN			14	2199	-			677			Spectrin 1.|Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.2029G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043789	0.55003	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	5.12	5.12	0.69794	.	0.079607	0.47852	U	0.000215	D	0.88016	0.6324	L	0.43923	1.385	0.53688	D	0.999978	B;B;B;B;B;B;B;B	0.13594	0.008;0.008;0.008;0.005;0.008;0.008;0.008;0.008	B;B;B;B;B;B;B;B	0.12156	0.007;0.007;0.007;0.003;0.007;0.007;0.007;0.007	D	0.84490	0.0610	10	0.52906	T	0.07	.	10.917	0.47142	0.0:0.9121:0.0:0.0879	.	567;526;518;677;508;540;544;540	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	540;544;540;508;677;518;526;567;563;584	ENSP00000344848:D540N;ENSP00000350277:D544N;ENSP00000346602:D540N;ENSP00000381756:D508N;ENSP00000323856:D677N;ENSP00000347044:D518N;ENSP00000348702:D526N;ENSP00000388180:D567N;ENSP00000434583:D563N;ENSP00000437303:D584N	ENSP00000323856:D677N	D	-	1	0	PLEC	145079068	1.000000	0.71417	0.392000	0.26245	0.964000	0.63967	3.006000	0.49529	2.390000	0.81377	0.643000	0.83706	GAT		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		6	81	0	0	0	0.006214	0	6	81		
PARP10	84875	broad.mit.edu	37	8	145057596	145057596	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145057596C>T	ENST00000313028.7	-	8	2255	c.2161G>A	c.(2161-2163)Gag>Aag	p.E721K	PARP10_ENST00000524918.1_Missense_Mutation_p.E712K|PARP10_ENST00000525773.1_Missense_Mutation_p.E733K|PARP10_ENST00000533665.1_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	721	Myc binding.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGTCCAGCTCCTCCACATCC	0.692																																						uc003zal.3		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6						c.(2161-2163)GAG>AAG		poly (ADP-ribose) polymerase family, member 10							15.0	15.0	15.0					8																	145057596		2193	4294	6487	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145057596C>T	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2161G>A	8.37:g.145057596C>T	ENSP00000325618:p.Glu721Lys					PARP10_uc003zak.3_Missense_Mutation_p.E418K|PARP10_uc011lku.1_Missense_Mutation_p.E733K|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.E712K	p.E721K	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		8	2269	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		721			Myc binding.		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.2161G>A	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080113	0.36662	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.11821	2.74;2.76;2.76	5.09	5.09	0.68999	Ubiquitin interacting motif (1);	0.113014	0.38897	N	0.001521	T	0.15478	0.0373	L	0.34521	1.04	0.09310	N	0.999997	P;P	0.51791	0.948;0.948	P;P	0.49528	0.614;0.614	T	0.08249	-1.0731	10	0.66056	D	0.02	.	9.6649	0.39979	0.0:0.9043:0.0:0.0957	.	733;721	E9PNI7;Q53GL7	.;PAR10_HUMAN	K	712;427;721;733	ENSP00000431620:E712K;ENSP00000325618:E721K;ENSP00000434776:E733K	ENSP00000325618:E721K	E	-	1	0	PARP10	145129584	0.033000	0.19621	0.118000	0.21660	0.134000	0.20937	2.561000	0.45905	2.380000	0.81148	0.639000	0.83563	GAG		0.692	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1		NM_032789		6	38	0	0	0	0.008291	0	6	38		
GRINA	2907	broad.mit.edu	37	8	145065951	145065951	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145065951C>G	ENST00000313269.5	+	3	749	c.471C>G	c.(469-471)atC>atG	p.I157M	GRINA_ENST00000395068.4_Missense_Mutation_p.I157M	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	157						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAAGAGCATCCGACAGGCCT	0.612																																						uc003zan.1		NaN																	0				central_nervous_system(1)	1						c.(469-471)ATC>ATG		glutamate receptor, ionotropic, N-methyl							95.0	87.0	90.0					8																	145065951		2203	4300	6503	SO:0001583	missense	2907					integral to membrane		g.chr8:145065951C>G	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 3"""	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.471C>G	8.37:g.145065951C>G	ENSP00000314380:p.Ile157Met					GRINA_uc003zao.1_Missense_Mutation_p.I157M|GRINA_uc003zap.1_Missense_Mutation_p.I157M	p.I157M	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	637	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		157					B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	c.471C>G	CCDS34961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.23|17.23	3.338031|3.338031	0.60963|0.60963	.|.	.|.	ENSG00000178719|ENSG00000178719	ENST00000313269;ENST00000529301;ENST00000395068;ENST00000537637|ENST00000534791;ENST00000533044;ENST00000527194	T;T;T|.	0.13307|.	2.6;2.6;2.6|.	5.23|5.23	-0.994|-0.994	0.10225|0.10225	.|.	0.120124|.	0.53938|.	D|.	0.000048|.	T|T	0.62344|0.62344	0.2420|0.2420	M|M	0.85099|0.85099	2.735|2.735	0.37842|0.37842	D|D	0.929093|0.929093	D|.	0.76494|.	0.999|.	D|.	0.63597|.	0.916|.	T|T	0.61806|0.61806	-0.6987|-0.6987	10|5	0.66056|.	D|.	0.02|.	-27.0657|-27.0657	0.74|0.74	0.00972|0.00972	0.1648:0.32:0.1615:0.3537|0.1648:0.32:0.1615:0.3537	.|.	157|.	Q7Z429|.	GRINA_HUMAN|.	M|A	157;157;157;138|81;47;13	ENSP00000314380:I157M;ENSP00000432706:I157M;ENSP00000378507:I157M|.	ENSP00000314380:I157M|.	I|P	+|+	3|1	3|0	GRINA|GRINA	145137939|145137939	0.045000|0.045000	0.20229|0.20229	0.992000|0.992000	0.48379|0.48379	0.997000|0.997000	0.91878|0.91878	-0.657000|-0.657000	0.05335|0.05335	-0.167000|-0.167000	0.10871|0.10871	0.650000|0.650000	0.86243|0.86243	ATC|CCG		0.612	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1		NM_001009184		15	138	0	0	0	0.008871	0	15	138		
SPATC1	375686	broad.mit.edu	37	8	145095934	145095934	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145095934C>T	ENST00000377470.3	+	3	1334	c.1232C>T	c.(1231-1233)tCg>tTg	p.S411L	SPATC1_ENST00000447830.2_Missense_Mutation_p.S411L	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	411						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGAACCGTCGACGAAGAGC	0.632																																						uc011lkw.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1231-1233)TCG>TTG		spermatogenesis and centriole associated 1							186.0	90.0	122.0					8																	145095934		2203	4299	6502	SO:0001583	missense	375686							g.chr8:145095934C>T	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1232C>T	8.37:g.145095934C>T	ENSP00000366690:p.Ser411Leu					SPATC1_uc011lkx.1_Missense_Mutation_p.S411L	p.S411L	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	1334	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		411					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.1232C>T	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	C	9.818	1.185127	0.21870	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T	0.46451	0.87	4.06	0.959	0.19624	.	3.437640	0.00508	N	0.000179	T	0.35998	0.0951	M	0.62723	1.935	0.09310	N	1	P;P	0.46327	0.807;0.876	B;B	0.34138	0.103;0.176	T	0.32981	-0.9886	10	0.66056	D	0.02	1.0389	2.6615	0.05028	0.188:0.5211:0.1828:0.1081	.	411;411	B4DWW9;Q76KD6	.;SPERI_HUMAN	L	411	ENSP00000366690:S411L	ENSP00000366690:S411L	S	+	2	0	SPATC1	145167922	0.001000	0.12720	0.002000	0.10522	0.000000	0.00434	1.009000	0.29886	-0.051000	0.13334	-0.369000	0.07265	TCG		0.632	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1		NM_198572		21	164	0	0	0	0.010504	0	21	164		
VLDLR	7436	broad.mit.edu	37	9	2652822	2652822	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:2652822G>A	ENST00000382100.3	+	18	2815	c.2459G>A	c.(2458-2460)cGg>cAg	p.R820Q	VLDLR_ENST00000382099.2_Missense_Mutation_p.R792Q	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	820					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TTGATGTGGCGGAATTGGCAA	0.423																																						uc003zhk.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2458-2460)CGG>CAG		very low density lipoprotein receptor isoform a							170.0	146.0	154.0					9																	2652822		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2652822G>A		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.2459G>A	9.37:g.2652822G>A	ENSP00000371532:p.Arg820Gln					VLDLR_uc003zhl.1_Missense_Mutation_p.R792Q|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.R751Q	p.R820Q	NM_003383	NP_003374	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	18	2856	+			820			Cytoplasmic (Potential).		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.2459G>A	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	G	36	5.784904	0.96937	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	T;T	0.71579	-0.58;-0.58	5.58	5.58	0.84498	.	0.000000	0.49305	D	0.000142	D	0.86234	0.5884	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	D	0.87153	0.2210	10	0.72032	D	0.01	.	19.9348	0.97133	0.0:0.0:1.0:0.0	.	792;792;820	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	Q	820;792;699	ENSP00000371532:R820Q;ENSP00000371531:R792Q	ENSP00000371524:R699Q	R	+	2	0	VLDLR	2642822	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.740000	0.74832	2.789000	0.95967	0.591000	0.81541	CGG		0.423	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2		NM_003383		10	80	0	0	0	0.001855	0	10	80		
NFIB	4781	broad.mit.edu	37	9	14313493	14313493	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:14313493G>A	ENST00000380959.3	-	1	491	c.18C>T	c.(16-18)atC>atT	p.I6I	NFIB_ENST00000380921.3_Silent_p.I6I|NFIB_ENST00000397579.2_Silent_p.I6I|NFIB_ENST00000397575.3_Silent_p.I6I|NFIB_ENST00000380953.1_Silent_p.I6I|NFIB_ENST00000397581.2_Silent_p.I6I|NFIB_ENST00000380934.4_Intron	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	6					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GAGTGAGACAGATGGGAGAAT	0.443			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc003zle.2		NaN		Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	MYB|HGMA2		adenoid cystic carcinoma|lipoma		0					0						c.(16-18)ATC>ATT		nuclear factor I/B							150.0	146.0	147.0					9																	14313493		2203	4300	6503	SO:0001819	synonymous_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14313493G>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.18C>T	9.37:g.14313493G>A						NFIB_uc003zlf.2_Silent_p.I6I|NFIB_uc011lmo.1_Silent_p.I6I	p.I6I	NM_005596	NP_005587	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	1	453	-			6			CTF/NF-I.		G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Silent	SNP	ENST00000380959.3	37	c.18C>T	CCDS6474.1																																																																																				0.443	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1		NM_005596		12	120	0	0	0	0.00499	0	12	120		
NFIB	4781	broad.mit.edu	37	9	14313500	14313500	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:14313500G>A	ENST00000380959.3	-	1	484	c.11C>T	c.(10-12)tCt>tTt	p.S4F	NFIB_ENST00000380921.3_Missense_Mutation_p.S4F|NFIB_ENST00000397579.2_Missense_Mutation_p.S4F|NFIB_ENST00000397575.3_Missense_Mutation_p.S4F|NFIB_ENST00000380953.1_Missense_Mutation_p.S4F|NFIB_ENST00000397581.2_Missense_Mutation_p.S4F|NFIB_ENST00000380934.4_Intron	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	4					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		ACAGATGGGAGAATACATCAT	0.448			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc003zle.2		NaN		Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	MYB|HGMA2		adenoid cystic carcinoma|lipoma		0					0						c.(10-12)TCT>TTT		nuclear factor I/B							150.0	146.0	147.0					9																	14313500		2203	4300	6503	SO:0001583	missense	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14313500G>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.11C>T	9.37:g.14313500G>A	ENSP00000370346:p.Ser4Phe					NFIB_uc003zlf.2_Missense_Mutation_p.S4F|NFIB_uc011lmo.1_Missense_Mutation_p.S4F	p.S4F	NM_005596	NP_005587	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	1	446	-			4			CTF/NF-I.		G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.11C>T	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698356	0.68386	.	.	ENSG00000147862	ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000380921	T;T;T;T;T	0.51325	0.73;0.76;0.72;0.71;0.74	4.63	4.63	0.57726	CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.49304	0.1549	N	0.14661	0.345	0.80722	D	1	P;P;P	0.43826	0.818;0.818;0.818	P;P;P	0.55965	0.788;0.788;0.788	T	0.57774	-0.7753	10	0.62326	D	0.03	-4.4907	17.4881	0.87694	0.0:0.0:1.0:0.0	.	4;4;4	Q5VW27;Q5VW29;O00712	.;.;NFIB_HUMAN	F	4	ENSP00000370346:S4F;ENSP00000370340:S4F;ENSP00000380705:S4F;ENSP00000380711:S4F;ENSP00000380709:S4F	ENSP00000370308:S4F	S	-	2	0	NFIB	14303500	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.630000	0.90987	2.117000	0.64856	0.313000	0.20887	TCT		0.448	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1		NM_005596		11	113	0	0	0	0.004007	0	11	113		
CNTLN	54875	broad.mit.edu	37	9	17484452	17484452	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:17484452G>A	ENST00000380647.3	+	24	4099	c.4015G>A	c.(4015-4017)Gaa>Aaa	p.E1339K	CNTLN_ENST00000425824.1_Missense_Mutation_p.E1339K|CNTLN_ENST00000262360.5_Missense_Mutation_p.E1339K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1339					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGATTTAGAGGAAATATTAGA	0.323																																						uc003zmz.2		NaN																	0				pancreas(1)	1						c.(4012-4014)GAA>AAA		centlein isoform 1							83.0	79.0	80.0					9																	17484452		1814	4066	5880	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17484452G>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.4015G>A	9.37:g.17484452G>A	ENSP00000370021:p.Glu1339Lys					CNTLN_uc003zmy.2_Missense_Mutation_p.E1339K|CNTLN_uc010mio.2_Missense_Mutation_p.E1018K	p.E1338K	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	24	4038	+			1339					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.4012G>A	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077684	0.94000	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.21031	2.03;2.03;2.3	5.41	5.41	0.78517	.	.	.	.	.	T	0.40719	0.1128	M	0.69823	2.125	0.49798	D	0.999825	D;D;D	0.59767	0.986;0.973;0.973	P;P;P	0.54026	0.73;0.74;0.74	T	0.13469	-1.0508	9	0.45353	T	0.12	.	19.5538	0.95333	0.0:0.0:1.0:0.0	.	1339;1339;1339	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	K	1339	ENSP00000370021:E1339K;ENSP00000392798:E1339K;ENSP00000262360:E1339K	ENSP00000262360:E1339K	E	+	1	0	CNTLN	17474452	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.510000	0.81708	2.688000	0.91661	0.655000	0.94253	GAA		0.323	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3		NM_017738		5	34	0	0	0	0.001168	0	5	34		
IFNA4	3441	broad.mit.edu	37	9	21187338	21187338	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:21187338C>G	ENST00000421715.1	-	1	260	c.193G>C	c.(193-195)Gag>Cag	p.E65Q		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	65					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCATCAAACTCCTCCTCGGGG	0.512																																					NSCLC(154;890 1986 23660 27800 51138)	uc003zon.2		NaN																	0				ovary(1)|skin(1)	2						c.(193-195)GAG>CAG		interferon, alpha 4 precursor							109.0	108.0	108.0					9																	21187338		2203	4300	6503	SO:0001583	missense	3441				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21187338C>G		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.193G>C	9.37:g.21187338C>G	ENSP00000412897:p.Glu65Gln						p.E65Q	NM_021068	NP_066546	P05014	IFNA4_HUMAN		GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	261	-			65					P13358|Q14CS4|Q5VV15	Missense_Mutation	SNP	ENST00000421715.1	37	c.193G>C	CCDS6498.1	.	.	.	.	.	.	.	.	.	.	-	1.845	-0.466444	0.04476	.	.	ENSG00000236637	ENST00000421715	T	0.03330	3.97	2.96	-0.293	0.12835	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.784428	0.11551	N	0.552813	T	0.03695	0.0105	L	0.42744	1.35	0.09310	N	1	B	0.13594	0.008	B	0.24006	0.05	T	0.42732	-0.9434	10	0.49607	T	0.09	.	3.34	0.07115	0.0:0.3862:0.209:0.4048	.	65	P05014	IFNA4_HUMAN	Q	65	ENSP00000412897:E65Q	ENSP00000412897:E65Q	E	-	1	0	IFNA4	21177338	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.717000	0.04986	-0.199000	0.10317	0.485000	0.47835	GAG		0.512	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1		NM_021068		8	100	0	0	0	0.00308	0	8	100		
KLHL9	55958	broad.mit.edu	37	9	21334174	21334174	+	Missense_Mutation	SNP	G	G	A	rs536145296		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:21334174G>A	ENST00000359039.4	-	1	1205	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	KLHL9_ENST00000537938.1_Missense_Mutation_p.R161W			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	229	BACK.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TAATCCATCCGAGGGTCTTCC	0.428													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21584	0.0		0.0	False		,,,				2504	0.0					uc003zoy.2		NaN																	0				ovary(3)|skin(1)	4						c.(685-687)CGG>TGG		kelch-like 9							88.0	87.0	88.0					9																	21334174		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21334174G>A	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.685C>T	9.37:g.21334174G>A	ENSP00000351933:p.Arg229Trp					KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	p.R229W	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	1256	-			229			BACK.		Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.685C>T	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176237	0.57692	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.74209	-0.82;-0.82	5.37	5.37	0.77165	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.89466	0.6723	M	0.92317	3.295	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.91629	0.5317	10	0.87932	D	0	.	16.9779	0.86319	0.0:0.0:1.0:0.0	.	229	Q9P2J3	KLHL9_HUMAN	W	229;161	ENSP00000351933:R229W;ENSP00000437733:R161W	ENSP00000351933:R229W	R	-	1	2	KLHL9	21324174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.408000	0.80041	2.688000	0.91661	0.650000	0.86243	CGG		0.428	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2		NM_018847		14	78	0	0	0	0.00245	0	14	78		
TOPORS	10210	broad.mit.edu	37	9	32541498	32541498	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:32541498C>T	ENST00000360538.2	-	3	3141	c.3025G>A	c.(3025-3027)Gag>Aag	p.E1009K	TOPORS_ENST00000379858.1_Missense_Mutation_p.E944K	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1009					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GGCTGGTTCTCCAAATCAGAA	0.428																																						uc003zrb.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(3025-3027)GAG>AAG		topoisomerase I binding, arginine/serine-rich							131.0	129.0	130.0					9																	32541498		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541498C>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.3025G>A	9.37:g.32541498C>T	ENSP00000353735:p.Glu1009Lys					TOPORS_uc003zrc.2_Missense_Mutation_p.E942K	p.E1009K	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	3192	-			1009					O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.3025G>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700037	0.48307	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.16897	2.31;2.33	5.61	3.73	0.42828	.	0.280375	0.25671	N	0.029079	T	0.09291	0.0229	N	0.14661	0.345	0.28001	N	0.935262	B	0.24186	0.099	B	0.21917	0.037	T	0.12604	-1.0541	10	0.56958	D	0.05	-4.1639	6.3826	0.21544	0.1375:0.6544:0.1332:0.0749	.	1009	Q9NS56	TOPRS_HUMAN	K	1009;944	ENSP00000353735:E1009K;ENSP00000369187:E944K	ENSP00000353735:E1009K	E	-	1	0	TOPORS	32531498	0.983000	0.35010	1.000000	0.80357	0.309000	0.27889	1.511000	0.35801	1.498000	0.48600	0.650000	0.86243	GAG		0.428	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1		NM_005802		6	100	0	0	0	0.001168	0	6	100		
UBAP2	55833	broad.mit.edu	37	9	33948389	33948389	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:33948389G>T	ENST00000379238.1	-	13	1370	c.1253C>A	c.(1252-1254)tCa>tAa	p.S418*	UBAP2_ENST00000379225.1_Nonsense_Mutation_p.S51*|UBAP2_ENST00000449054.1_Nonsense_Mutation_p.S418*|UBAP2_ENST00000360802.1_Nonsense_Mutation_p.S418*|UBAP2_ENST00000539807.1_Nonsense_Mutation_p.S173*|UBAP2_ENST00000379239.4_Nonsense_Mutation_p.S151*|UBAP2_ENST00000418786.2_Nonsense_Mutation_p.S365*					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTGAGGACTGAGGACTGGGA	0.483																																						uc003ztq.1		NaN																	0				ovary(3)	3						c.(1252-1254)TCA>TAA		ubiquitin associated protein 2							277.0	242.0	254.0					9																	33948389		2203	4300	6503	SO:0001587	stop_gained	55833							g.chr9:33948389G>T	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1253C>A	9.37:g.33948389G>T	ENSP00000368540:p.Ser418*					UBAP2_uc011loc.1_Nonsense_Mutation_p.S327*|UBAP2_uc011lod.1_Nonsense_Mutation_p.S151*|UBAP2_uc011loe.1_Nonsense_Mutation_p.S173*|UBAP2_uc011lof.1_Nonsense_Mutation_p.S343*|UBAP2_uc011log.1_Nonsense_Mutation_p.S364*|UBAP2_uc003ztr.2_Nonsense_Mutation_p.S290*|UBAP2_uc003zts.2_Nonsense_Mutation_p.S51*	p.S418*	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	13	1366	-			418						Nonsense_Mutation	SNP	ENST00000379238.1	37	c.1253C>A	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	38	7.090043	0.98055	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225;ENST00000412543;ENST00000421278	.	.	.	6.17	6.17	0.99709	.	0.114726	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3568	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	418;418;418;327;336;151;173;365;51;365;272	.	ENSP00000354039:S418X	S	-	2	0	UBAP2	33938389	1.000000	0.71417	0.879000	0.34478	0.847000	0.48162	7.446000	0.80609	2.941000	0.99782	0.655000	0.94253	TCA		0.483	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1		NM_018449		9	139	1	0	4.68919e-08	0.008291	4.93278e-08	9	139		
KIF24	347240	broad.mit.edu	37	9	34257247	34257247	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:34257247C>T	ENST00000402558.2	-	10	2382	c.2358G>A	c.(2356-2358)ctG>ctA	p.L786L	KIF24_ENST00000379166.2_Silent_p.L786L|KIF24_ENST00000345050.2_Silent_p.L652L|KIF24_ENST00000379174.3_Silent_p.L652L			Q5T7B8	KIF24_HUMAN	kinesin family member 24	786					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AAGACCTTTTCAGTGGTTGGT	0.517																																						uc003zua.3		NaN																	0				central_nervous_system(1)	1						c.(2356-2358)CTG>CTA		kinesin family member 24							95.0	102.0	99.0					9																	34257247		2203	4300	6503	SO:0001819	synonymous_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257247C>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2358G>A	9.37:g.34257247C>T						KIF24_uc010mkb.2_Intron	p.L786L	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2478	-			786					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	ENST00000402558.2	37	c.2358G>A	CCDS6551.2																																																																																				0.517	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5				9	80	0	0	0	0.008291	0	9	80		
FANCG	2189	broad.mit.edu	37	9	35076535	35076535	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:35076535C>G	ENST00000378643.3	-	8	1461	c.970G>C	c.(970-972)Gag>Cag	p.E324Q	FANCG_ENST00000476212.1_5'UTR	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	324					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AATTCTACCTCAATGAGAAAC	0.463			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														uc003zwb.1		NaN	yes	Rec		Fanconi anaemia G	9	9p13	2189	Mis|N|F|S	"""Fanconi anemia, complementation group G"""			L		AML|leukemia			0				ovary(2)|large_intestine(1)|lung(1)	4						c.(970-972)GAG>CAG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group G							123.0	102.0	109.0					9																	35076535		2203	4300	6503	SO:0001583	missense	2189	Fanconi_Anemia			cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35076535C>G	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.970G>C	9.37:g.35076535C>G	ENSP00000367910:p.Glu324Gln					FANCG_uc003zwa.1_Missense_Mutation_p.E66Q|FANCG_uc010mkj.1_Missense_Mutation_p.E66Q|FANCG_uc011lot.1_Missense_Mutation_p.E324Q	p.E324Q	NM_004629	NP_004620	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	1462	-			324						Missense_Mutation	SNP	ENST00000378643.3	37	c.970G>C	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019474	0.35606	.	.	ENSG00000221829	ENST00000378643;ENST00000543657	T	0.54479	0.57	5.32	5.32	0.75619	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.48874	0.1524	M	0.63428	1.95	0.32775	N	0.503308	P	0.48911	0.917	B	0.38803	0.282	T	0.62909	-0.6754	9	0.33940	T	0.23	-1.3466	14.357	0.66745	0.0:1.0:0.0:0.0	.	324	O15287	FANCG_HUMAN	Q	324	ENSP00000367910:E324Q	ENSP00000367910:E324Q	E	-	1	0	FANCG	35066535	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.229000	0.42990	2.769000	0.95229	0.563000	0.77884	GAG		0.463	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1		NM_004629		10	70	0	0	0	0.001368	0	10	70		
FANCG	2189	broad.mit.edu	37	9	35077090	35077090	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:35077090C>G	ENST00000378643.3	-	6	1146	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	219					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGATCAGCTCCTGGAGACCT	0.567			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														uc003zwb.1		NaN	yes	Rec		Fanconi anaemia G	9	9p13	2189	Mis|N|F|S	"""Fanconi anemia, complementation group G"""			L		AML|leukemia			0				ovary(2)|large_intestine(1)|lung(1)	4						c.(655-657)GAG>CAG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group G							86.0	92.0	89.0					9																	35077090		2203	4300	6503	SO:0001583	missense	2189	Fanconi_Anemia			cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35077090C>G	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.655G>C	9.37:g.35077090C>G	ENSP00000367910:p.Glu219Gln					FANCG_uc003zwa.1_5'UTR|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.E219Q	p.E219Q	NM_004629	NP_004620	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		6	1147	-			219						Missense_Mutation	SNP	ENST00000378643.3	37	c.655G>C	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121704	0.37436	.	.	ENSG00000221829	ENST00000378643;ENST00000543657	T	0.37411	1.2	6.07	5.15	0.70609	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.53965	0.1829	M	0.67953	2.075	0.31390	N	0.678	D	0.89917	1.0	P	0.62491	0.903	T	0.61028	-0.7145	9	0.44086	T	0.13	-4.5091	12.5133	0.56017	0.1666:0.8334:0.0:0.0	.	219	O15287	FANCG_HUMAN	Q	219	ENSP00000367910:E219Q	ENSP00000367910:E219Q	E	-	1	0	FANCG	35067090	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	2.364000	0.44187	1.512000	0.48834	0.655000	0.94253	GAG		0.567	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1		NM_004629		15	67	0	0	0	0.006122	0	15	67		
UNC13B	10497	broad.mit.edu	37	9	35310490	35310490	+	Missense_Mutation	SNP	C	C	T	rs199517826		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:35310490C>T	ENST00000378495.3	+	9	1010	c.788C>T	c.(787-789)tCc>tTc	p.S263F	UNC13B_ENST00000396787.1_Missense_Mutation_p.S275F|UNC13B_ENST00000378496.4_Missense_Mutation_p.S263F	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	263					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTATGGCTCCTCCTGTAAT	0.468																																						uc003zwq.2		NaN																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.(787-789)TCC>TTC		UNC13 (C. elegans)-like		C	PHE/SER	0,4406		0,0,2203	94.0	91.0	92.0		788	5.8	1.0	9		92	2,8598	1.2+/-3.3	0,2,4298	yes	missense	UNC13B	NM_006377.3	155	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	263/1592	35310490	2,13004	2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35310490C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.788C>T	9.37:g.35310490C>T	ENSP00000367756:p.Ser263Phe					UNC13B_uc010mkl.1_Missense_Mutation_p.S263F|UNC13B_uc003zwr.2_Missense_Mutation_p.S263F	p.S263F	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		9	1080	+	all_epithelial(49;0.212)		263					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.788C>T	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912575	0.92178	0.0	2.33E-4	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;T;T	0.87809	-2.3;0.85;0.85	5.81	5.81	0.92471	.	0.425959	0.26234	N	0.025546	D	0.92642	0.7662	L	0.61218	1.895	0.58432	D	0.999996	D;D;D	0.69078	0.995;0.997;0.99	D;D;D	0.80764	0.91;0.994;0.974	D	0.91818	0.5465	10	0.48119	T	0.1	-1.0614	19.0707	0.93134	0.0:1.0:0.0:0.0	.	263;263;263	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	F	275;263;263	ENSP00000380006:S275F;ENSP00000367756:S263F;ENSP00000367757:S263F	ENSP00000367756:S263F	S	+	2	0	UNC13B	35300490	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.729000	0.74775	2.746000	0.94184	0.655000	0.94253	TCC		0.468	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1		NM_006377		14	107	0	0	0	0.004007	0	14	107		
FRMPD1	22844	broad.mit.edu	37	9	37744481	37744481	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:37744481G>A	ENST00000539465.1	+	16	3045	c.2452G>A	c.(2452-2454)Gat>Aat	p.D818N	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D818N|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	818						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTGTGGGCCAGATGGAAGACA	0.547																																						uc004aag.1		NaN																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(2452-2454)GAT>AAT		FERM and PDZ domain containing 1							96.0	97.0	97.0					9																	37744481		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37744481G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2452G>A	9.37:g.37744481G>A	ENSP00000444411:p.Asp818Asn					FRMPD1_uc004aah.1_Missense_Mutation_p.D818N	p.D818N	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	2496	+			818					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.2452G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	8.747	0.920423	0.17982	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06142	3.34;3.34	5.51	1.23	0.21249	.	1.803200	0.02359	N	0.076745	T	0.06325	0.0163	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36553	-0.9743	10	0.31617	T	0.26	0.0396	8.222	0.31547	0.0918:0.5056:0.4025:0.0	.	818	Q5SYB0	FRPD1_HUMAN	N	818	ENSP00000366995:D818N;ENSP00000444411:D818N	ENSP00000366995:D818N	D	+	1	0	FRMPD1	37734481	0.001000	0.12720	0.002000	0.10522	0.148000	0.21650	0.487000	0.22356	0.661000	0.30985	0.549000	0.68633	GAT		0.547	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1		NM_014907		12	124	0	0	0	0.010729	0	12	124		
PGM5	5239	broad.mit.edu	37	9	71080072	71080072	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:71080072T>A	ENST00000396396.1	+	7	1336	c.1107T>A	c.(1105-1107)aaT>aaA	p.N369K	PGM5_ENST00000396392.1_Missense_Mutation_p.N369K	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	369					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TCTTCTCAAATCTGATGGACT	0.453																																						uc004agr.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1105-1107)AAT>AAA		phosphoglucomutase 5							193.0	178.0	183.0					9																	71080072		2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71080072T>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1107T>A	9.37:g.71080072T>A	ENSP00000379678:p.Asn369Lys						p.N369K	NM_021965	NP_068800	Q15124	PGM5_HUMAN			7	1336	+			369					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1107T>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030908	0.75504	.	.	ENSG00000154330	ENST00000396396;ENST00000396392	T;T	0.64991	-0.13;0.95	5.87	1.05	0.20165	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81521	-0.0895	10	0.87932	D	0	.	9.1133	0.36741	0.0:0.2823:0.0:0.7177	.	369	Q15124	PGM5_HUMAN	K	369	ENSP00000379678:N369K;ENSP00000379674:N369K	ENSP00000379674:N369K	N	+	3	2	PGM5	70269892	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	0.359000	0.20233	0.216000	0.20781	0.533000	0.62120	AAT		0.453	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2		NM_021965		9	73	0	0	0	0.008291	0	9	73		
SMC5	23137	broad.mit.edu	37	9	72930435	72930435	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:72930435C>G	ENST00000361138.5	+	13	1805	c.1747C>G	c.(1747-1749)Cag>Gag	p.Q583E		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	583	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CCTTTGCTGTCAGTATCATAT	0.343																																						uc004ahr.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1747-1749)CAG>GAG		SMC5 protein							67.0	65.0	66.0					9																	72930435		2203	4298	6501	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72930435C>G	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1747C>G	9.37:g.72930435C>G	ENSP00000354957:p.Gln583Glu						p.Q583E	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN			13	1864	+			583			Flexible hinge.		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.1747C>G	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592189	0.86953	.	.	ENSG00000198887	ENST00000361138	T	0.16743	2.32	5.95	5.95	0.96441	RecF/RecN/SMC (1);	0.120086	0.64402	D	0.000020	T	0.19805	0.0476	L	0.43701	1.375	0.80722	D	1	P	0.40431	0.717	B	0.43754	0.43	T	0.01334	-1.1382	10	0.02654	T	1	-8.2084	20.3932	0.98965	0.0:1.0:0.0:0.0	.	583	Q8IY18	SMC5_HUMAN	E	583	ENSP00000354957:Q583E	ENSP00000354957:Q583E	Q	+	1	0	SMC5	72120255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.921000	0.75805	2.824000	0.97209	0.655000	0.94253	CAG		0.343	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1		NM_015110		4	27	0	0	0	0.000602	0	4	27		
PRUNE2	158471	broad.mit.edu	37	9	79322056	79322056	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:79322056C>T	ENST00000376718.3	-	8	5257	c.5134G>A	c.(5134-5136)Gat>Aat	p.D1712N	PRUNE2_ENST00000428286.1_Missense_Mutation_p.D1353N	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1712					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGGATTCATCCTCAGCAACG	0.443																																						uc010mpk.2		NaN																	0					0						c.(5134-5136)GAT>AAT		prune homolog 2							99.0	85.0	89.0					9																	79322056		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322056C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5134G>A	9.37:g.79322056C>T	ENSP00000365908:p.Asp1712Asn						p.D1712N	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	5258	-			1712					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5134G>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.015|0.015	-1.541671|-1.541671	0.00934|0.00934	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.41065|.	1.02;1.01|.	5.83|5.83	-1.36|-1.36	0.09085|0.09085	.|.	1.344590|.	0.04651|.	N|.	0.407197|.	T|T	0.09992|0.09992	0.0245|0.0245	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.27468|0.27468	-1.0073|-1.0073	10|5	0.10377|.	T|.	0.69|.	2.1228|2.1228	2.7863|2.7863	0.05375|0.05375	0.1205:0.1577:0.4448:0.277|0.1205:0.1577:0.4448:0.277	.|.	1712|.	Q8WUY3|.	PRUN2_HUMAN|.	N|E	1712;1353;1711|1033	ENSP00000365908:D1712N;ENSP00000397425:D1353N|.	ENSP00000365908:D1712N|.	D|G	-|-	1|2	0|0	PRUNE2|PRUNE2	78511876|78511876	0.045000|0.045000	0.20229|0.20229	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	0.201000|0.201000	0.17276|0.17276	-0.511000|-0.511000	0.06514|0.06514	-0.302000|-0.302000	0.09304|0.09304	GAT|GGA		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2		NM_138818		5	39	0	0	0	0.001984	0	5	39		
ZNF462	58499	broad.mit.edu	37	9	109694815	109694815	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:109694815C>G	ENST00000277225.5	+	5	6390	c.6101C>G	c.(6100-6102)tCt>tGt	p.S2034C	ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000441147.2_Missense_Mutation_p.S940C|ZNF462_ENST00000457913.1_Missense_Mutation_p.S2094C|ZNF462_ENST00000542028.1_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2034					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TCGTTTGTTTCTGCTTTCAGG	0.517																																						uc004bcz.2		NaN																	0				ovary(5)	5						c.(6100-6102)TCT>TGT		zinc finger protein 462							151.0	110.0	124.0					9																	109694815		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109694815C>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6101C>G	9.37:g.109694815C>G	ENSP00000277225:p.Ser2034Cys					ZNF462_uc010mto.2_Missense_Mutation_p.S1943C|ZNF462_uc004bda.2_Missense_Mutation_p.S1942C|ZNF462_uc011lvz.1_5'Flank	p.S2034C	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			5	6390	+			2034			C2H2-type 19.		Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.6101C>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378872	0.82682	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.28069	2.45;1.63;1.63;1.63	4.92	4.92	0.64577	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.063400	0.64402	D	0.000003	T	0.44582	0.1300	N	0.26042	0.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	T	0.40346	-0.9568	10	0.51188	T	0.08	.	18.3106	0.90199	0.0:1.0:0.0:0.0	.	2094;2034	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	C	2034;2094;977;940	ENSP00000277225:S2034C;ENSP00000414570:S2094C;ENSP00000363818:S977C;ENSP00000397306:S940C	ENSP00000277225:S2034C	S	+	2	0	ZNF462	108734636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.289000	0.78701	2.568000	0.86640	0.591000	0.81541	TCT		0.517	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2		NM_021224		10	98	0	0	0	0.001855	0	10	98		
CTNNAL1	8727	broad.mit.edu	37	9	111755015	111755015	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:111755015G>C	ENST00000325551.4	-	3	502	c.416C>G	c.(415-417)aCa>aGa	p.T139R	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.T139R|CTNNAL1_ENST00000374593.4_Missense_Mutation_p.T139R|RNA5-8SP3_ENST00000364357.1_RNA|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.T139R	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	139					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TATCACTCCTGTTTTGTCTGT	0.378																																						uc004bdo.1		NaN																	0				ovary(1)	1						c.(415-417)ACA>AGA		catenin, alpha-like 1							121.0	114.0	116.0					9																	111755015		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111755015G>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.416C>G	9.37:g.111755015G>C	ENSP00000320434:p.Thr139Arg					CTNNAL1_uc010mtt.1_Missense_Mutation_p.T139R|CTNNAL1_uc004bdp.1_Missense_Mutation_p.T139R	p.T139R	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	3	458	-			139					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.416C>G	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693507	0.68386	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374593	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.62	5.62	0.85841	.	0.095242	0.64402	D	0.000001	T	0.55513	0.1925	M	0.69823	2.125	0.53688	D	0.999977	P;P;P	0.51147	0.942;0.565;0.942	P;P;P	0.57720	0.826;0.568;0.826	T	0.52335	-0.8589	10	0.31617	T	0.26	-8.0574	10.5657	0.45171	0.087:0.0:0.913:0.0	.	139;139;139	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	R	139	ENSP00000363723:T139R;ENSP00000320434:T139R;ENSP00000323351:T139R;ENSP00000363721:T139R	ENSP00000320434:T139R	T	-	2	0	CTNNAL1	110794836	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.426000	0.80270	2.625000	0.88918	0.655000	0.94253	ACA		0.378	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1		NM_003798		3	27	0	0	0	0.009096	0	3	27		
C9orf84	158401	broad.mit.edu	37	9	114454446	114454446	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:114454446G>C	ENST00000318737.4	-	25	3747	c.3619C>G	c.(3619-3621)Cta>Gta	p.L1207V	C9orf84_ENST00000394777.4_Missense_Mutation_p.L1133V|C9orf84_ENST00000394779.3_Missense_Mutation_p.L1168V|C9orf84_ENST00000374287.3_Missense_Mutation_p.L1207V	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1207										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATATTAATTAGAAAAGGAGTA	0.373																																						uc004bfr.2		NaN																	0				ovary(2)	2						c.(3619-3621)CTA>GTA		hypothetical protein LOC158401 isoform 1							65.0	71.0	69.0					9																	114454446		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114454446G>C	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3619C>G	9.37:g.114454446G>C	ENSP00000322108:p.Leu1207Val					C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.L1168V|C9orf84_uc010mug.2_Missense_Mutation_p.L1118V	p.L1207V	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN			25	3754	-			1207					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.3619C>G	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264421	0.23136	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.11821	2.74;2.81;2.76;2.76	5.4	4.51	0.55191	.	0.367904	0.19809	N	0.105570	T	0.18341	0.0440	L	0.34521	1.04	0.09310	N	1	P;P;P	0.48162	0.906;0.906;0.906	P;P;P	0.51701	0.677;0.677;0.677	T	0.03619	-1.1019	10	0.72032	D	0.01	-0.5217	11.4706	0.50266	0.0852:0.0:0.9148:0.0	.	1133;1207;1168	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	V	1168;1133;821;1207;1207	ENSP00000378259:L1168V;ENSP00000378257:L1133V;ENSP00000363405:L1207V;ENSP00000322108:L1207V	ENSP00000322108:L1207V	L	-	1	2	C9orf84	113494267	0.626000	0.27120	0.006000	0.13384	0.087000	0.18053	1.536000	0.36072	1.419000	0.47118	0.467000	0.42956	CTA		0.373	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2		NM_173521		6	28	0	0	0	0.001168	0	6	28		
NDUFA8	4702	broad.mit.edu	37	9	124906608	124906608	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:124906608G>C	ENST00000373768.3	-	4	572	c.431C>G	c.(430-432)tCa>tGa	p.S144*	NDUFA8_ENST00000537618.1_Intron	NM_014222.2	NP_055037.1	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	144					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						TCTTGGTCTTGAGTGATAGGG	0.517																																						uc004blv.2		NaN																	0				breast(1)	1						c.(430-432)TCA>TGA		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						147.0	120.0	129.0					9																	124906608		2203	4300	6503	SO:0001587	stop_gained	4702				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr9:124906608G>C	AF044953	CCDS6835.1	9q33.2	2011-07-04	2002-08-29		ENSG00000119421	ENSG00000119421		"""Mitochondrial respiratory chain complex / Complex I"""	7692	protein-coding gene	gene with protein product	"""complex I PGIV subunit"""	603359	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8 (19kD, PGIV)"""			9763677	Standard	NM_014222		Approved	PGIV, MGC793	uc004blv.3	P51970	OTTHUMG00000020598	ENST00000373768.3:c.431C>G	9.37:g.124906608G>C	ENSP00000362873:p.Ser144*						p.S144*	NM_014222	NP_055037	P51970	NDUA8_HUMAN			4	573	-			144					B1AM93|Q9Y6N0	Nonsense_Mutation	SNP	ENST00000373768.3	37	c.431C>G	CCDS6835.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032387	0.93575	.	.	ENSG00000119421	ENST00000373768	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-12.7471	17.5764	0.87950	0.0:0.0:1.0:0.0	.	.	.	.	X	144	.	ENSP00000362873:S144X	S	-	2	0	NDUFA8	123946429	1.000000	0.71417	0.989000	0.46669	0.758000	0.43043	9.199000	0.95003	2.746000	0.94184	0.655000	0.94253	TCA		0.517	NDUFA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053909.1		NM_014222		6	84	0	0	0	0.004482	0	6	84		
RC3H2	54542	broad.mit.edu	37	9	125621301	125621301	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:125621301C>A	ENST00000373670.1	-	11	2530	c.1930G>T	c.(1930-1932)Gag>Tag	p.E644*	RC3H2_ENST00000357244.2_Nonsense_Mutation_p.E644*|RC3H2_ENST00000423239.2_Nonsense_Mutation_p.E644*			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	644	Pro-rich.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AGGGAGGACTCTGGAACGTTA	0.507																																						uc010mwc.1		NaN																	0				ovary(2)|lung(2)	4						c.(1930-1932)GAG>TAG		ring finger and CCCH-type zinc finger domains 2							66.0	73.0	70.0					9																	125621301		2067	4197	6264	SO:0001587	stop_gained	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125621301C>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1930G>T	9.37:g.125621301C>A	ENSP00000362774:p.Glu644*					RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Nonsense_Mutation_p.E644*|RC3H2_uc004bne.3_Nonsense_Mutation_p.E644*	p.E644*	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN			12	2171	-			644			Pro-rich.		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Nonsense_Mutation	SNP	ENST00000373670.1	37	c.1930G>T	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	40	8.274075	0.98737	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	.	.	.	5.64	5.64	0.86602	.	0.107041	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-3.0785	16.8459	0.85980	0.0:1.0:0.0:0.0	.	.	.	.	X	644;644;515;644	.	ENSP00000349783:E644X	E	-	1	0	RC3H2	124661122	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.329000	0.72920	2.645000	0.89757	0.655000	0.94253	GAG		0.507	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1		NM_018835		15	62	1	0	3.27435e-08	0.00245	3.44725e-08	15	62		
RC3H2	54542	broad.mit.edu	37	9	125642878	125642878	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:125642878C>G	ENST00000373670.1	-	5	1555	c.955G>C	c.(955-957)Gat>Cat	p.D319H	RC3H2_ENST00000357244.2_Missense_Mutation_p.D319H|RC3H2_ENST00000373665.2_Missense_Mutation_p.D319H|RC3H2_ENST00000423239.2_Missense_Mutation_p.D319H|SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000335387.5_Missense_Mutation_p.D319H			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	319					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CAAACCTTATCAATGATAGAC	0.368																																						uc010mwc.1		NaN																	0				ovary(2)|lung(2)	4						c.(955-957)GAT>CAT		ring finger and CCCH-type zinc finger domains 2							84.0	78.0	80.0					9																	125642878		1900	4128	6028	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125642878C>G	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.955G>C	9.37:g.125642878C>G	ENSP00000362774:p.Asp319His					RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.D319H|RC3H2_uc004bne.3_Missense_Mutation_p.D319H|RC3H2_uc011lzf.1_Missense_Mutation_p.D56H|RC3H2_uc011lzg.1_Missense_Mutation_p.D319H|SNORD90_uc004bnf.1_5'Flank	p.D319H	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN			6	1196	-			319					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.955G>C	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382102	0.82792	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.97782	0.9272	M	0.84219	2.685	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;0.999;0.99;0.996	D	0.98609	1.0662	10	0.87932	D	0	-22.022	17.6361	0.88122	0.0:1.0:0.0:0.0	.	319;190;319;319	A6NHN2;Q4VXB0;Q9HBD1;Q9HBD1-4	.;.;RC3H2_HUMAN;.	H	319;319;190;319;319;319	ENSP00000362774:D319H;ENSP00000349783:D319H;ENSP00000411767:D319H;ENSP00000362769:D319H;ENSP00000335150:D319H	ENSP00000335150:D319H	D	-	1	0	RC3H2	124682699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.492000	0.84095	0.655000	0.94253	GAT		0.368	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1		NM_018835		3	48	0	0	0	0.004672	0	3	48		
ANGPTL2	23452	broad.mit.edu	37	9	129870633	129870633	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:129870633C>T	ENST00000373425.3	-	2	995	c.378G>A	c.(376-378)gaG>gaA	p.E126E	RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	126					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TGTTGCGGCTCTCCTTGCGCA	0.612																																						uc004bqr.1		NaN																	0					0						c.(376-378)GAG>GAA		angiopoietin-like 2 precursor							44.0	39.0	41.0					9																	129870633		2203	4300	6503	SO:0001819	synonymous_variant	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129870633C>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.378G>A	9.37:g.129870633C>T						RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Intron	p.E126E	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN			2	878	-			126					Q5JT58|Q8NCH7	Silent	SNP	ENST00000373425.3	37	c.378G>A	CCDS6868.1																																																																																				0.612	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1		NM_012098		10	41	0	0	0	0.001368	0	10	41		
STXBP1	6812	broad.mit.edu	37	9	130434372	130434372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:130434372C>T	ENST00000373299.1	+	12	1121	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	STXBP1_ENST00000481942.1_3'UTR|STXBP1_ENST00000373302.3_Nonsense_Mutation_p.Q336*	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	336					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GAAGATGCCTCAGTACCAGAA	0.473																																						uc004brl.2		NaN																	0				skin(1)	1						c.(1006-1008)CAG>TAG		syntaxin binding protein 1 isoform b							119.0	110.0	113.0					9																	130434372		2203	4300	6503	SO:0001587	stop_gained	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130434372C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1006C>T	9.37:g.130434372C>T	ENSP00000362396:p.Gln336*					STXBP1_uc004brk.2_Nonsense_Mutation_p.Q336*	p.Q336*	NM_001032221	NP_001027392	P61764	STXB1_HUMAN			12	1203	+			336					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Nonsense_Mutation	SNP	ENST00000373299.1	37	c.1006C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	39	7.486938	0.98316	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-26.8655	17.0456	0.86501	0.0:1.0:0.0:0.0	.	.	.	.	X	290;336;168;336	.	ENSP00000362396:Q336X	Q	+	1	0	STXBP1	129474193	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.689000	0.91719	0.561000	0.74099	CAG		0.473	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1		NM_003165		20	69	0	0	0	0.00333	0	20	69		
TOR2A	27433	broad.mit.edu	37	9	130494388	130494388	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:130494388G>A	ENST00000373284.5	-	5	937	c.891C>T	c.(889-891)ttC>ttT	p.F297F	TOR2A_ENST00000373281.5_3'UTR|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000336067.6_3'UTR	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	297					chaperone mediated protein folding requiring cofactor (GO:0051085)|protein homooligomerization (GO:0051260)	endoplasmic reticulum lumen (GO:0005788)	ATP binding (GO:0005524)			NS(1)|endometrium(2)	3						CTTCAGGGAAGAAGGTGGTGC	0.637																																						uc004brs.3		NaN																	0					0						c.(889-891)TTC>TTT		torsin family 2, member A isoform a							91.0	101.0	97.0					9																	130494388		2057	4188	6245	SO:0001819	synonymous_variant	27433				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity	g.chr9:130494388G>A	AA873275	CCDS6876.1, CCDS43879.1, CCDS48024.1	9q34.11	2010-08-20			ENSG00000160404	ENSG00000160404			11996	protein-coding gene	gene with protein product		608052				10644435	Standard	NM_001085347		Approved	FLJ14771, TORP1	uc004brs.4	Q5JU69	OTTHUMG00000020706	ENST00000373284.5:c.891C>T	9.37:g.130494388G>A						TOR2A_uc004brt.3_3'UTR|TOR2A_uc004brw.3_3'UTR|TOR2A_uc011maj.1_3'UTR|TOR2A_uc004bru.3_Silent_p.F135F|TOR2A_uc004brv.3_RNA|TOR2A_uc004brx.1_3'UTR	p.F297F	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN			5	946	-			297					A4FU12|A4FU13|Q3ZCN9|Q3ZCP0|Q5JU68|Q66K87|Q6UXW6|Q8NAN5|Q96SL7	Silent	SNP	ENST00000373284.5	37	c.891C>T	CCDS43879.1																																																																																				0.637	TOR2A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054205.1		NM_130459		28	117	0	0	0	0.009535	0	28	117		
TRUB2	26995	broad.mit.edu	37	9	131087436	131087436	+	5'Flank	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:131087436C>T	ENST00000372890.4	-	0	0				TRUB2_ENST00000546104.1_5'Flank|COQ4_ENST00000300452.3_Silent_p.L73L|TRUB2_ENST00000460320.1_5'Flank|COQ4_ENST00000372875.3_Silent_p.L73L	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2						pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GGTCGCAGTTCTAGGGGAGAC	0.557																																						uc004bur.3		NaN																	0					0						c.(217-219)CTA>TTA		coenzyme Q4 homolog precursor							69.0	63.0	65.0					9																	131087436		2203	4300	6503	SO:0001631	upstream_gene_variant	51117				ubiquinone biosynthetic process	mitochondrial inner membrane		g.chr9:131087436C>T	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741		9.37:g.131087436C>T	Exception_encountered					TRUB2_uc004buq.1_5'Flank|COQ4_uc011max.1_Silent_p.L73L|COQ4_uc004bus.2_Silent_p.L49L|COQ4_uc010mxy.2_Silent_p.L49L	p.L73L	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN			3	564	+			73					B7Z7G5	Silent	SNP	ENST00000372890.4	37	c.217C>T	CCDS6897.1																																																																																				0.557	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1		NM_015679		7	35	0	0	0	0.006214	0	7	35		
WDR34	89891	broad.mit.edu	37	9	131396209	131396209	+	Missense_Mutation	SNP	C	C	G	rs200702768	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:131396209C>G	ENST00000372715.2	-	9	1485	c.1425G>C	c.(1423-1425)ttG>ttC	p.L475F	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	475						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TTTGCTTGATCAAAACTGTGG	0.517													C|||	3	0.000599042	0.0	0.0	5008	,	,		17227	0.0		0.0	False		,,,				2504	0.0031					uc004bvq.1		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(1423-1425)TTG>TTC		WD repeat domain 34							48.0	49.0	48.0					9																	131396209		2199	4281	6480	SO:0001583	missense	89891					cytoplasm		g.chr9:131396209C>G	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.1425G>C	9.37:g.131396209C>G	ENSP00000361800:p.Leu475Phe					WDR34_uc004bvs.1_Missense_Mutation_p.L466F|WDR34_uc004bvr.1_Missense_Mutation_p.L447F	p.L475F	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN			9	1549	-			475					Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	c.1425G>C	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989186	0.35131	.	.	ENSG00000119333	ENST00000372715	T	0.30182	1.54	5.42	-10.3	0.00346	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.428162	0.27429	N	0.019410	T	0.09113	0.0225	N	0.08118	0	0.09310	N	1	B	0.28233	0.204	B	0.23574	0.047	T	0.06427	-1.0827	10	0.56958	D	0.05	-14.3697	5.5457	0.17063	0.1567:0.1727:0.5358:0.1348	.	475	Q96EX3	WDR34_HUMAN	F	475	ENSP00000361800:L475F	ENSP00000361800:L475F	L	-	3	2	WDR34	130436030	0.343000	0.24818	0.000000	0.03702	0.730000	0.41778	-0.471000	0.06631	-2.121000	0.00825	-0.264000	0.10439	TTG		0.517	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1		NM_052844		5	52	0	0	0	0.001168	0	5	52		
USP20	10868	broad.mit.edu	37	9	132630421	132630421	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:132630421G>C	ENST00000315480.4	+	11	986	c.828G>C	c.(826-828)cgG>cgC	p.R276R	USP20_ENST00000372429.3_Silent_p.R276R|USP20_ENST00000358355.1_Silent_p.R276R			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	276	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AGGGTGACCGGAGCCCATCAG	0.662																																						uc004bys.2		NaN																	0				lung(1)|breast(1)	2						c.(826-828)CGG>CGC		ubiquitin specific protease 20							91.0	111.0	104.0					9																	132630421		2146	4257	6403	SO:0001819	synonymous_variant	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132630421G>C	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.828G>C	9.37:g.132630421G>C						USP20_uc004byr.2_Silent_p.R276R|USP20_uc004byt.1_Silent_p.R276R	p.R276R	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN			11	1039	+		Ovarian(14;0.00556)	276					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	ENST00000315480.4	37	c.828G>C	CCDS43892.1																																																																																				0.662	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2				24	166	0	0	0	0.007291	0	24	166		
USP20	10868	broad.mit.edu	37	9	132630629	132630629	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:132630629G>A	ENST00000315480.4	+	11	1194	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	USP20_ENST00000372429.3_Missense_Mutation_p.E346K|USP20_ENST00000358355.1_Missense_Mutation_p.E346K			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	346	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GCAAGTGGACGAGGACGCTGA	0.667																																						uc004bys.2		NaN																	0				lung(1)|breast(1)	2						c.(1036-1038)GAG>AAG		ubiquitin specific protease 20							44.0	50.0	48.0					9																	132630629		2157	4248	6405	SO:0001583	missense	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132630629G>A	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1036G>A	9.37:g.132630629G>A	ENSP00000313811:p.Glu346Lys					USP20_uc004byr.2_Missense_Mutation_p.E346K|USP20_uc004byt.1_Missense_Mutation_p.E346K	p.E346K	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN			11	1247	+		Ovarian(14;0.00556)	346					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.1036G>A	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143372	0.57044	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.17213	2.29;2.29;2.29	5.49	5.49	0.81192	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.002150	0.08041	N	0.995186	T	0.35451	0.0932	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.09465	-1.0673	10	0.07325	T	0.83	.	18.3689	0.90400	0.0:0.0:1.0:0.0	.	346	Q9Y2K6	UBP20_HUMAN	K	346	ENSP00000361506:E346K;ENSP00000313811:E346K;ENSP00000351122:E346K	ENSP00000313811:E346K	E	+	1	0	USP20	131670450	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	8.999000	0.93557	2.575000	0.86900	0.561000	0.74099	GAG		0.667	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2				18	133	0	0	0	0.007413	0	18	133		
PRRC2B	84726	broad.mit.edu	37	9	134308165	134308165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:134308165C>T	ENST00000357304.4	+	2	332	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	PRRC2B_ENST00000405995.1_Nonsense_Mutation_p.Q93*|PRRC2B_ENST00000458550.1_Nonsense_Mutation_p.Q93*	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	93							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAAGCAGGATCAGCAAGACCC	0.562																																						uc004can.3		NaN																	0					0						c.(277-279)CAG>TAG		HLA-B associated transcript 2-like							100.0	111.0	107.0					9																	134308165		2112	4232	6344	SO:0001587	stop_gained	84726						protein binding	g.chr9:134308165C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.277C>T	9.37:g.134308165C>T	ENSP00000349856:p.Gln93*					BAT2L1_uc004cam.1_Nonsense_Mutation_p.Q93*	p.Q93*	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			2	332	+			93					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Nonsense_Mutation	SNP	ENST00000357304.4	37	c.277C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	37	6.574946	0.97676	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	.	.	.	5.85	5.85	0.93711	.	0.000000	0.39544	U	0.001322	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-27.9962	19.1413	0.93446	0.0:1.0:0.0:0.0	.	.	.	.	X	93	.	ENSP00000349856:Q93X	Q	+	1	0	PRRC2B	133297986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.767000	0.95098	0.655000	0.94253	CAG		0.562	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					10	74	0	0	0	0.001368	0	10	74		
DBH	1621	broad.mit.edu	37	9	136501627	136501627	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:136501627G>A	ENST00000393056.2	+	1	146	c.134G>A	c.(133-135)aGc>aAc	p.S45N		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	45					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCCCGTGAGAGCCCCCTCCCC	0.647																																						uc004cel.2		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(133-135)AGC>AAC		dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)						36.0	35.0	35.0					9																	136501627		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501627G>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.134G>A	9.37:g.136501627G>A	ENSP00000376776:p.Ser45Asn						p.S45N	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	143	+			45			Intragranular (Potential).		Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.134G>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	3.314	-0.140169	0.06669	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.50548	0.74;0.87	5.59	-2.04	0.07343	.	0.443869	0.28161	N	0.016379	T	0.33147	0.0853	L	0.50333	1.59	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.17745	-1.0359	10	0.27082	T	0.32	-13.5472	7.0172	0.24895	0.4339:0.2961:0.27:0.0	.	45	P09172	DOPO_HUMAN	N	45;31;31	ENSP00000376776:S45N;ENSP00000263611:S31N	ENSP00000263611:S31N	S	+	2	0	DBH	135491448	0.000000	0.05858	0.820000	0.32676	0.061000	0.15899	-0.661000	0.05311	-0.264000	0.09365	0.561000	0.74099	AGC		0.647	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2		NM_000787		13	58	0	0	0	0.001855	0	13	58		
DBH	1621	broad.mit.edu	37	9	136507468	136507468	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:136507468C>G	ENST00000393056.2	+	3	638	c.626C>G	c.(625-627)tCa>tGa	p.S209*		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	209					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GAGTTGCCCTCAGACGCGTGC	0.602																																						uc004cel.2		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(625-627)TCA>TGA		dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)						68.0	63.0	65.0					9																	136507468		2203	4300	6503	SO:0001587	stop_gained	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136507468C>G	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.626C>G	9.37:g.136507468C>G	ENSP00000376776:p.Ser209*						p.S209*	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	3	635	+			209			Intragranular (Potential).		Q5T381|Q96AG2	Nonsense_Mutation	SNP	ENST00000393056.2	37	c.626C>G	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319478	0.23994	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	.	.	.	4.67	0.439	0.16567	.	1.168750	0.05985	N	0.645080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-3.526	4.1331	0.10158	0.3432:0.4243:0.1562:0.0763	.	.	.	.	X	209;146;146	.	ENSP00000263611:S146X	S	+	2	0	DBH	135497289	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.267000	0.18552	-0.126000	0.11682	0.491000	0.48974	TCA		0.602	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2		NM_000787		3	45	0	0	0	0.004672	0	3	45		
GPSM1	26086	broad.mit.edu	37	9	139250941	139250941	+	Missense_Mutation	SNP	G	G	T	rs367584448		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:139250941G>T	ENST00000440944.1	+	13	1980	c.1760G>T	c.(1759-1761)cGa>cTa	p.R587L	GPSM1_ENST00000392944.1_Missense_Mutation_p.R78L|GPSM1_ENST00000429455.1_Missense_Mutation_p.R78L	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	587					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGCACCTCCGAGGCCACGGC	0.716																																						uc004chd.2		NaN																	0					0						c.(1759-1761)CGA>CTA		G-protein signaling modulator 1 (AGS3-like, C.							24.0	31.0	29.0					9																	139250941		2200	4297	6497	SO:0001583	missense	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139250941G>T	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1760G>T	9.37:g.139250941G>T	ENSP00000392828:p.Arg587Leu					GPSM1_uc011mdu.1_Missense_Mutation_p.R78L|GPSM1_uc004che.2_Missense_Mutation_p.R78L	p.R587L	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	13	1980	+		Myeloproliferative disorder(178;0.0821)	587					A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	37	c.1760G>T	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	G	8.668	0.902126	0.17760	.	.	ENSG00000160360	ENST00000440944;ENST00000354753;ENST00000429455;ENST00000392944;ENST00000291775	D;D	0.90788	-2.73;-2.72	5.2	4.29	0.51040	.	0.256396	0.33364	N	0.004985	T	0.79741	0.4498	N	0.08118	0	0.42835	D	0.994033	P	0.42735	0.788	B	0.38225	0.268	T	0.78653	-0.2120	10	0.26408	T	0.33	-3.063	13.5605	0.61786	0.0:0.0:0.8336:0.1664	.	587	Q86YR5	GPSM1_HUMAN	L	587;564;78;78;78	ENSP00000392828:R587L;ENSP00000346797:R564L	ENSP00000291775:R78L	R	+	2	0	GPSM1	138370762	1.000000	0.71417	0.776000	0.31678	0.106000	0.19336	4.389000	0.59639	1.150000	0.42419	0.462000	0.41574	CGA		0.716	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_015597		14	56	1	0	8.60227e-14	0.004007	9.19089e-14	14	56		
TRAF2	7186	broad.mit.edu	37	9	139794080	139794080	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:139794080G>A	ENST00000247668.2	+	3	275	c.223G>A	c.(223-225)Gag>Aag	p.E75K	TRAF2_ENST00000359662.3_Missense_Mutation_p.E75K|TRAF2_ENST00000536468.1_Missense_Mutation_p.E75K	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	75					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CTGTGTTCACGAGGGCATATA	0.383																																						uc010nbu.2		NaN																	0				ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(223-225)GAG>AAG		TNF receptor-associated factor 2							142.0	136.0	138.0					9																	139794080		2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139794080G>A	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.223G>A	9.37:g.139794080G>A	ENSP00000247668:p.Glu75Lys					TRAF2_uc010nbv.1_Missense_Mutation_p.E75K|TRAF2_uc004cjv.2_Missense_Mutation_p.E75K|TRAF2_uc011mek.1_Missense_Mutation_p.E64K|TRAF2_uc010nbw.2_Missense_Mutation_p.E75K	p.E75K	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	4	396	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	75					A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.223G>A	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046752	0.93740	.	.	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645;ENST00000414589	T;T;T;T;T;T	0.64438	0.49;1.44;1.48;1.44;1.2;-0.1	4.94	4.94	0.65067	Zinc finger, RING/FYVE/PHD-type (1);	0.216623	0.41500	D	0.000874	T	0.79185	0.4403	M	0.85197	2.74	0.58432	D	0.999995	D;D;D;P	0.67145	0.996;0.988;0.994;0.658	P;P;P;B	0.60541	0.876;0.815;0.815;0.163	T	0.83263	-0.0047	10	0.66056	D	0.02	-36.5264	16.3265	0.82983	0.0:0.0:1.0:0.0	.	64;75;75;75	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	K	75;75;75;99;75;75;75;75	ENSP00000405860:E75K;ENSP00000446414:E75K;ENSP00000406524:E75K;ENSP00000247668:E75K;ENSP00000352685:E75K;ENSP00000397653:E75K	ENSP00000247668:E75K	E	+	1	0	TRAF2	138913901	1.000000	0.71417	0.901000	0.35422	0.971000	0.66376	7.960000	0.87893	2.287000	0.76781	0.491000	0.48974	GAG		0.383	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1		NM_021138		15	78	0	0	0	0.006122	0	15	78		
WWC3	55841	broad.mit.edu	37	X	10106775	10106775	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:10106775C>T	ENST00000380861.4	+	21	3274	c.2883C>T	c.(2881-2883)ctC>ctT	p.L961L	WWC3_ENST00000454666.1_Silent_p.L961L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	961					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGGCTGAGCTCATGGCCCGCA	0.597																																						uc004csx.3		NaN																	0				ovary(4)	4						c.(2881-2883)CTC>CTT		WWC family member 3							40.0	27.0	32.0					X																	10106775		2203	4300	6503	SO:0001819	synonymous_variant	55841							g.chrX:10106775C>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2883C>T	X.37:g.10106775C>T						WWC3_uc010nds.2_Silent_p.L625L|WWC3_uc010ndt.2_RNA	p.L961L	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			21	3081	+			961					A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.2883C>T	CCDS14136.1																																																																																				0.597	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1		NM_015691		6	33	0	0	0	0.001984	0	6	33		
GLRA2	2742	broad.mit.edu	37	X	14708969	14708969	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:14708969G>A	ENST00000218075.4	+	8	1598	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	GLRA2_ENST00000355020.4_Silent_p.K356K|GLRA2_ENST00000443437.2_Silent_p.K267K	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	356					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	GAAGACAGAAGAGGCAGAATA	0.468																																						uc010nep.2		NaN																	0				ovary(1)|lung(1)	2						c.(1066-1068)AAG>AAA		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						121.0	98.0	106.0					X																	14708969		2203	4300	6503	SO:0001819	synonymous_variant	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14708969G>A		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.1068G>A	X.37:g.14708969G>A						GLRA2_uc010neq.2_Silent_p.K356K|GLRA2_uc004cwe.3_Silent_p.K356K|GLRA2_uc011mio.1_Silent_p.K267K|GLRA2_uc011mip.1_Silent_p.K334K	p.K356K	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			9	1400	+	Hepatocellular(33;0.128)		356			Cytoplasmic (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Silent	SNP	ENST00000218075.4	37	c.1068G>A	CCDS14160.1																																																																																				0.468	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1				7	48	0	0	0	0.006214	0	7	48		
NHS	4810	broad.mit.edu	37	X	17749980	17749980	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:17749980C>T	ENST00000380060.3	+	8	4627	c.4289C>T	c.(4288-4290)tCc>tTc	p.S1430F	NHS_ENST00000398097.3_Missense_Mutation_p.S1274F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1451					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TCTCAAAGATCCAAGAGGAAA	0.453																																						uc004cxx.2		NaN																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(4288-4290)TCC>TTC		Nance-Horan syndrome protein isoform 1							107.0	117.0	114.0					X																	17749980		2203	4298	6501	SO:0001583	missense	4810					nucleus		g.chrX:17749980C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4289C>T	X.37:g.17749980C>T	ENSP00000369400:p.Ser1430Phe					NHS_uc011mix.1_Missense_Mutation_p.S1451F|NHS_uc004cxy.2_Missense_Mutation_p.S1274F|NHS_uc004cxz.2_Missense_Mutation_p.S1253F|NHS_uc004cya.2_Missense_Mutation_p.S1153F	p.S1430F	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			8	4627	+	Hepatocellular(33;0.183)		1430					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.4289C>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580066	0.86645	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.69306	-0.39;-0.36	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.82024	0.4947	M	0.70275	2.135	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;0.999	D	0.83865	0.0270	10	0.87932	D	0	-11.7603	18.6771	0.91532	0.0:1.0:0.0:0.0	.	1451;1272;1274;1430	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	F	1430;1274;1272	ENSP00000369400:S1430F;ENSP00000381170:S1274F	ENSP00000369397:S1272F	S	+	2	0	NHS	17659901	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.294000	0.78760	2.355000	0.79922	0.600000	0.82982	TCC		0.453	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1		NM_198270		37	48	0	0	0	0.010771	0	37	48		
PDHA1	5160	broad.mit.edu	37	X	19369482	19369482	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:19369482C>T	ENST00000422285.2	+	4	480	c.375C>T	c.(373-375)ttC>ttT	p.F125F	PDHA1_ENST00000379806.5_Silent_p.F163F|PDHA1_ENST00000545074.1_Silent_p.F132F|PDHA1_ENST00000379805.3_Silent_p.F125F|PDHA1_ENST00000540249.1_Silent_p.F125F			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	125					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					GCTTTACTTTCACCCGGGGCC	0.502																																						uc004czg.3		NaN																	0				ovary(1)	1						c.(373-375)TTC>TTT		pyruvate dehydrogenase E1 alpha 1 precursor	NADH(DB00157)						104.0	97.0	99.0					X																	19369482		2203	4300	6503	SO:0001819	synonymous_variant	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369482C>T		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.375C>T	X.37:g.19369482C>T						PDHA1_uc004czh.3_Silent_p.F160F|PDHA1_uc011mjc.1_Silent_p.F129F|PDHA1_uc011mjd.1_Silent_p.F122F|PDHA1_uc010nfk.2_Silent_p.F122F	p.F125F	NM_000284	NP_000275	P08559	ODPA_HUMAN			4	520	+	Hepatocellular(33;0.183)		125					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Silent	SNP	ENST00000422285.2	37	c.375C>T	CCDS14192.1																																																																																				0.502	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1				26	67	0	0	0	0.004878	0	26	67		
DDX3X	1654	broad.mit.edu	37	X	41202027	41202027	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:41202027G>C	ENST00000399959.2	+	6	1336	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_Missense_Mutation_p.E205Q|DDX3X_ENST00000457138.2_Missense_Mutation_p.E145Q|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	161	Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GATTAATTTTGAGAAATACGA	0.373										HNSCC(61;0.18)																												uc004dfe.2		NaN																	0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(481-483)GAG>CAG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3							113.0	99.0	104.0					X																	41202027		1979	4170	6149	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41202027G>C	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.481G>C	X.37:g.41202027G>C	ENSP00000382840:p.Glu161Gln	HNSCC(61;0.18)				DDX3X_uc010nhf.1_Missense_Mutation_p.E145Q|DDX3X_uc004dff.2_Missense_Mutation_p.E161Q|DDX3X_uc011mkq.1_Missense_Mutation_p.E145Q|DDX3X_uc011mkr.1_Missense_Mutation_p.E161Q|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	p.E161Q	NM_001356	NP_001347	O00571	DDX3X_HUMAN			6	1336	+			161					A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.481G>C	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768888	0.90020	.	.	ENSG00000215301	ENST00000399959;ENST00000457138;ENST00000542215	T;T;T	0.43294	1.99;1.97;0.95	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	M	0.76838	2.35	0.80722	D	1	P;P;P;B;B	0.50943	0.94;0.609;0.778;0.409;0.409	P;B;B;B;B	0.54759	0.76;0.179;0.358;0.186;0.186	T	0.66073	-0.6014	10	0.66056	D	0.02	-9.2054	18.9517	0.92643	0.0:0.0:1.0:0.0	.	161;145;161;173;161	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	Q	161;145;205	ENSP00000382840:E161Q;ENSP00000392494:E145Q;ENSP00000439799:E205Q	ENSP00000382840:E161Q	E	+	1	0	DDX3X	41086971	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.424000	0.82194	0.600000	0.82982	GAG		0.373	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1		NM_024005		14	55	0	0	0	0.008871	0	14	55		
DDX3X	1654	broad.mit.edu	37	X	41203033	41203033	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:41203033G>A	ENST00000399959.2	+	8	1578	c.723G>A	c.(721-723)caG>caA	p.Q241Q	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_Intron|DDX3X_ENST00000457138.2_Silent_p.Q225Q|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	241	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TCTTGAGTCAGATTTATTCAG	0.403										HNSCC(61;0.18)																												uc004dfe.2		NaN																	0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(721-723)CAG>CAA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3							92.0	79.0	83.0					X																	41203033		1930	4158	6088	SO:0001819	synonymous_variant	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41203033G>A	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.723G>A	X.37:g.41203033G>A		HNSCC(61;0.18)				DDX3X_uc010nhf.1_Silent_p.Q225Q|DDX3X_uc004dff.2_Silent_p.Q241Q|DDX3X_uc011mkq.1_Silent_p.Q225Q|DDX3X_uc011mkr.1_Silent_p.Q241Q|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_Intron	p.Q241Q	NM_001356	NP_001347	O00571	DDX3X_HUMAN			8	1578	+			241			Helicase ATP-binding.		A8K538|B4E3E8|O15536	Silent	SNP	ENST00000399959.2	37	c.723G>A	CCDS43931.1																																																																																				0.403	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1		NM_024005		12	40	0	0	0	0.003163	0	12	40		
JADE3	9767	broad.mit.edu	37	X	46913947	46913947	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:46913947G>A	ENST00000218343.4	+	9	1658	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	PHF16_ENST00000397189.1_Missense_Mutation_p.E454K	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GGAGGATGAAGAAAATGGGCT	0.458																																						uc004dgx.2		NaN																	0					0						c.(1360-1362)GAA>AAA		PHD finger protein 16							31.0	31.0	31.0					X																	46913947		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46913947G>A																												ENST00000218343.4:c.1360G>A	X.37:g.46913947G>A	ENSP00000218343:p.Glu454Lys					PHF16_uc004dgy.2_Missense_Mutation_p.E454K	p.E454K	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			9	1411	+			454						Missense_Mutation	SNP	ENST00000218343.4	37	c.1360G>A	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420226	0.42918	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.52295	0.67;0.67	5.14	3.35	0.38373	.	0.166501	0.51477	D	0.000083	T	0.41511	0.1162	M	0.66297	2.02	0.48632	D	0.999683	B	0.26318	0.146	B	0.29598	0.104	T	0.13845	-1.0494	10	0.10111	T	0.7	.	8.9874	0.36003	0.0772:0.271:0.6518:0.0	.	454	Q92613	JADE3_HUMAN	K	454	ENSP00000380373:E454K;ENSP00000218343:E454K	ENSP00000218343:E454K	E	+	1	0	PHF16	46798891	1.000000	0.71417	0.893000	0.35052	0.975000	0.68041	4.378000	0.59568	0.475000	0.27415	0.600000	0.82982	GAA		0.458	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1				4	11	0	0	0	0.009096	0	4	11		
GATA1	2623	broad.mit.edu	37	X	48650256	48650256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:48650256C>T	ENST00000376670.3	+	3	337	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	GATA1_ENST00000376665.3_Nonsense_Mutation_p.Q76*	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	76					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)|p.V74fs*60(1)|p.Q76E(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						AACAGTCTTTCAGGTGTACCC	0.587			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	uc004dkq.3		NaN		Dom	yes		X	Xp11.23	2623	Mis|F	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		4	Unknown(2)|Substitution - Missense(1)|Deletion - Frameshift(1)	p.?(2)|p.V74_C199del(1)|p.V74fs*60(1)|p.Q76E(1)	haematopoietic_and_lymphoid_tissue(3)|lung(1)	haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						c.(226-228)CAG>TAG		GATA binding protein 1							62.0	61.0	62.0					X																	48650256		2203	4300	6503	SO:0001587	stop_gained	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48650256C>T	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.226C>T	X.37:g.48650256C>T	ENSP00000365858:p.Gln76*						p.Q76*	NM_002049	NP_002040	P15976	GATA1_HUMAN			3	317	+			76					Q96GB8	Nonsense_Mutation	SNP	ENST00000376670.3	37	c.226C>T	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226872	0.58668	.	.	ENSG00000102145	ENST00000376670;ENST00000376665	.	.	.	3.94	3.94	0.45596	.	0.719720	0.12450	N	0.467865	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-9.2873	10.8107	0.46545	0.0:1.0:0.0:0.0	.	.	.	.	X	76	.	ENSP00000365853:Q76X	Q	+	1	0	GATA1	48535200	1.000000	0.71417	0.999000	0.59377	0.123000	0.20343	4.745000	0.62125	1.563000	0.49615	0.179000	0.17066	CAG		0.587	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1		NM_002049		14	85	0	0	0	0.006122	0	14	85		
GATA1	2623	broad.mit.edu	37	X	48650377	48650377	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:48650377C>G	ENST00000376670.3	+	3	458	c.347C>G	c.(346-348)tCt>tGt	p.S116C	GATA1_ENST00000376665.3_Missense_Mutation_p.S116C	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	116					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)|p.V77_A120>A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CGCGAGGACTCTCCTCCCCAG	0.627			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	uc004dkq.3		NaN		Dom	yes		X	Xp11.23	2623	Mis|F	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		3	Unknown(2)|Complex - deletion inframe(1)	p.?(2)|p.V74_C199del(1)|p.V77_A120>A(1)	haematopoietic_and_lymphoid_tissue(3)	haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						c.(346-348)TCT>TGT		GATA binding protein 1							54.0	48.0	50.0					X																	48650377		2203	4300	6503	SO:0001583	missense	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48650377C>G	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.347C>G	X.37:g.48650377C>G	ENSP00000365858:p.Ser116Cys						p.S116C	NM_002049	NP_002040	P15976	GATA1_HUMAN			3	438	+			116					Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	c.347C>G	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797136	0.31777	.	.	ENSG00000102145	ENST00000376670;ENST00000376665	D;D	0.97888	-4.59;-4.37	4.6	4.6	0.57074	.	1.361170	0.04649	N	0.406698	D	0.96078	0.8722	L	0.43923	1.385	0.45930	D	0.998763	P	0.35600	0.511	B	0.31191	0.125	D	0.87245	0.2269	10	0.87932	D	0	-11.134	13.9984	0.64416	0.0:1.0:0.0:0.0	.	116	P15976	GATA1_HUMAN	C	116	ENSP00000365858:S116C;ENSP00000365853:S116C	ENSP00000365853:S116C	S	+	2	0	GATA1	48535321	0.203000	0.23435	0.968000	0.41197	0.260000	0.26232	1.742000	0.38248	1.873000	0.54277	0.492000	0.49549	TCT		0.627	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1		NM_002049		16	49	0	0	0	0.008871	0	16	49		
GATA1	2623	broad.mit.edu	37	X	48650546	48650546	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:48650546C>A	ENST00000376670.3	+	3	627	c.516C>A	c.(514-516)ttC>ttA	p.F172L	GATA1_ENST00000376665.3_Missense_Mutation_p.F172L	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	172					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CCAGTACCTTCTTTTCTCCCA	0.567			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	uc004dkq.3		NaN		Dom	yes		X	Xp11.23	2623	Mis|F	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		2	Unknown(2)	p.?(2)|p.V74_C199del(1)	haematopoietic_and_lymphoid_tissue(2)	haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						c.(514-516)TTC>TTA		GATA binding protein 1							49.0	48.0	48.0					X																	48650546		2203	4300	6503	SO:0001583	missense	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48650546C>A	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.516C>A	X.37:g.48650546C>A	ENSP00000365858:p.Phe172Leu						p.F172L	NM_002049	NP_002040	P15976	GATA1_HUMAN			3	607	+			172					Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	c.516C>A	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	C	5.183	0.219269	0.09863	.	.	ENSG00000102145	ENST00000376670;ENST00000376665	D;D	0.96967	-4.19;-3.99	4.6	2.69	0.31865	.	0.214010	0.41823	D	0.000814	D	0.85754	0.5770	N	0.05383	-0.06	0.25982	N	0.98237	B	0.15473	0.013	B	0.11329	0.006	T	0.73864	-0.3848	10	0.02654	T	1	-10.0936	3.7853	0.08698	0.0:0.5687:0.2015:0.2298	.	172	P15976	GATA1_HUMAN	L	172	ENSP00000365858:F172L;ENSP00000365853:F172L	ENSP00000365853:F172L	F	+	3	2	GATA1	48535490	0.992000	0.36948	0.984000	0.44739	0.900000	0.52787	0.551000	0.23361	0.748000	0.32831	-0.362000	0.07510	TTC		0.567	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1		NM_002049		12	33	1	0	9.31168e-06	0.001855	9.66208e-06	12	33		
GATA1	2623	broad.mit.edu	37	X	48650590	48650590	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:48650590C>T	ENST00000376670.3	+	3	671	c.560C>T	c.(559-561)tCt>tTt	p.S187F	GATA1_ENST00000376665.3_Missense_Mutation_p.S187F	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	187					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GCCTATTCCTCTCCCAAGCTT	0.542			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	uc004dkq.3		NaN		Dom	yes		X	Xp11.23	2623	Mis|F	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		2	Unknown(2)	p.?(2)|p.V74_C199del(1)	haematopoietic_and_lymphoid_tissue(2)	haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						c.(559-561)TCT>TTT		GATA binding protein 1							47.0	46.0	46.0					X																	48650590		2203	4300	6503	SO:0001583	missense	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48650590C>T	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.560C>T	X.37:g.48650590C>T	ENSP00000365858:p.Ser187Phe						p.S187F	NM_002049	NP_002040	P15976	GATA1_HUMAN			3	651	+			187					Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	c.560C>T	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839690	0.71488	.	.	ENSG00000102145	ENST00000376670;ENST00000376665	D;D	0.97959	-4.63;-4.39	4.6	4.6	0.57074	.	0.139399	0.49916	D	0.000136	D	0.95095	0.8411	L	0.50333	1.59	0.40727	D	0.982712	P	0.35272	0.493	B	0.32724	0.151	D	0.94221	0.7467	10	0.29301	T	0.29	-17.8753	12.004	0.53248	0.0:1.0:0.0:0.0	.	187	P15976	GATA1_HUMAN	F	187	ENSP00000365858:S187F;ENSP00000365853:S187F	ENSP00000365853:S187F	S	+	2	0	GATA1	48535534	0.998000	0.40836	0.947000	0.38551	0.905000	0.53344	3.619000	0.54196	1.873000	0.54277	0.492000	0.49549	TCT		0.542	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1		NM_002049		11	35	0	0	0	0.003163	0	11	35		
DGKK	139189	broad.mit.edu	37	X	50129585	50129585	+	RNA	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:50129585C>G	ENST00000376025.2	-	0	2178							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAGTCACTCTATATAGAAA	0.483																																						uc010njr.1		NaN																	0				ovary(1)|kidney(1)	2						c.e15-1		diacylglycerol kinase kappa							60.0	48.0	52.0					X																	50129585		2035	4169	6204			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50129585C>G	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50129585C>G							p.S707_splice	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			15	2179	-	Ovarian(276;0.236)							B2RP91	Splice_Site	SNP	ENST00000376025.2	37	c.2119_splice																																																																																					0.483	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1		NM_001013742		2	9	0	0	0	0.004672	0	2	9		
SSX7	280658	broad.mit.edu	37	X	52681310	52681310	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:52681310C>T	ENST00000298181.5	-	4	430	c.272G>A	c.(271-273)gGg>gAg	p.G91E		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					ACCCTGATTCCCTTGGTTACG	0.517																																						uc004dqx.1		NaN																	0				skin(1)	1						c.(271-273)GGG>GAG		synovial sarcoma, X breakpoint 7							147.0	128.0	134.0					X																	52681310		2203	4300	6503	SO:0001583	missense	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52681310C>T	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.272G>A	X.37:g.52681310C>T	ENSP00000298181:p.Gly91Glu						p.G91E	NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN			4	431	-	Ovarian(276;0.236)		91						Missense_Mutation	SNP	ENST00000298181.5	37	c.272G>A	CCDS14343.1	.	.	.	.	.	.	.	.	.	.	N	7.789	0.711221	0.15239	.	.	ENSG00000187754	ENST00000298181	T	0.08458	3.09	0.725	-0.902	0.10537	.	2.199730	0.02923	N	0.138165	T	0.12475	0.0303	L	0.49126	1.545	0.09310	N	1	P	0.42375	0.778	P	0.51101	0.659	T	0.39292	-0.9621	9	0.05721	T	0.95	.	.	.	.	.	91	Q7RTT5	SSX7_HUMAN	E	91	ENSP00000298181:G91E	ENSP00000298181:G91E	G	-	2	0	SSX7	52698035	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.332000	0.07904	-0.312000	0.08741	0.409000	0.27619	GGG		0.517	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1		NM_173358		19	77	0	0	0	0.002299	0	19	77		
PFKFB1	5207	broad.mit.edu	37	X	54975561	54975561	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:54975561C>T	ENST00000375006.3	-	9	1010	c.940G>A	c.(940-942)Gag>Aag	p.E314K	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E249K	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	314	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCCAGGGCCTCAGCTGTCTGG	0.557																																						uc004dty.1		NaN																	0				ovary(1)	1						c.(940-942)GAG>AAG		6-phosphofructo-2-kinase/fructose-2,							124.0	87.0	99.0					X																	54975561		2203	4300	6503	SO:0001583	missense	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54975561C>T		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.940G>A	X.37:g.54975561C>T	ENSP00000364145:p.Glu314Lys					PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.E249K	p.E314K	NM_002625	NP_002616	P16118	F261_HUMAN			9	1011	-			314			Fructose-2,6-bisphosphatase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.940G>A	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250519	0.59212	.	.	ENSG00000158571	ENST00000375006;ENST00000545676	T;T	0.72615	-0.67;-0.67	4.28	4.28	0.50868	Histidine phosphatase superfamily, clade-1 (2);	0.101040	0.64402	D	0.000003	T	0.68072	0.2961	M	0.62016	1.91	0.80722	D	1	B;B	0.32573	0.376;0.178	B;B	0.32624	0.149;0.116	T	0.70153	-0.4950	10	0.41790	T	0.15	-12.9255	15.4132	0.74943	0.0:1.0:0.0:0.0	.	249;314	B4DUN5;P16118	.;F261_HUMAN	K	314;249	ENSP00000364145:E314K;ENSP00000444074:E249K	ENSP00000364145:E314K	E	-	1	0	PFKFB1	54992286	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	5.806000	0.69150	2.080000	0.62538	0.431000	0.28591	GAG		0.557	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1				15	46	0	0	0	0.00499	0	15	46		
ALAS2	212	broad.mit.edu	37	X	55051212	55051212	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:55051212C>T	ENST00000330807.5	-	3	380	c.243G>A	c.(241-243)aaG>aaA	p.K81K	ALAS2_ENST00000335854.4_Silent_p.K81K|ALAS2_ENST00000396198.3_Silent_p.K105K	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	81					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CAATCTTGCTCTTCCCATCCT	0.488																																						uc004dua.3		NaN																	0				ovary(1)	1						c.(241-243)AAG>AAA		5-aminolevulinate synthase 2 isoform a	Glycine(DB00145)						216.0	135.0	162.0					X																	55051212		2203	4300	6503	SO:0001819	synonymous_variant	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55051212C>T		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.243G>A	X.37:g.55051212C>T						ALAS2_uc004dub.3_Silent_p.K105K|ALAS2_uc004dud.3_Silent_p.K81K	p.K81K	NM_000032	NP_000023	P22557	HEM0_HUMAN			3	381	-			81					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Silent	SNP	ENST00000330807.5	37	c.243G>A	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348020	0.24426	.	.	ENSG00000158578	ENST00000455688	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	T	0.72220	0.3433	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71781	-0.4489	4	.	.	.	-14.3877	16.4963	0.84246	0.0:1.0:0.0:0.0	.	.	.	.	K	33	.	.	R	-	2	0	ALAS2	55067937	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.827000	0.27421	2.237000	0.73441	0.600000	0.82982	AGA		0.488	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3		NM_000032		14	42	0	0	0	0.004007	0	14	42		
HNRNPH2	3188	broad.mit.edu	37	X	100667669	100667669	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:100667669G>A	ENST00000316594.5	+	2	771	c.693G>A	c.(691-693)atG>atA	p.M231I		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	231					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TTGAAAGGATGAGGCGTGGTG	0.522																																						uc004ehm.2		NaN																	0					0						c.(691-693)ATG>ATA		heterogeneous nuclear ribonucleoprotein H2							79.0	69.0	72.0					X																	100667669		2203	4300	6503	SO:0001583	missense	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100667669G>A	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.693G>A	X.37:g.100667669G>A	ENSP00000361927:p.Met231Ile					HNRNPH2_uc004ehn.2_Missense_Mutation_p.M231I	p.M231I	NM_019597	NP_062543	P55795	HNRH2_HUMAN			2	863	+			231					A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	c.693G>A	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154419	0.38021	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.11277	2.79	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.16214	0.0390	M	0.75447	2.3	0.80722	D	1	B	0.17268	0.021	B	0.15484	0.013	T	0.01884	-1.1254	10	0.42905	T	0.14	-2.7398	14.3159	0.66450	0.0:0.0:1.0:0.0	.	231	P55795	HNRH2_HUMAN	I	186;231	ENSP00000361927:M231I	ENSP00000361927:M231I	M	+	3	0	HNRNPH2	100554325	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.492000	0.97957	2.345000	0.79718	0.513000	0.50165	ATG		0.522	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1		NM_019597		24	58	0	0	0	0.003954	0	24	58		
MID2	11043	broad.mit.edu	37	X	107169434	107169434	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:107169434G>C	ENST00000262843.6	+	9	2256	c.1708G>C	c.(1708-1710)Gag>Cag	p.E570Q	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.E540Q	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	570	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CCACACCCCAGAGAGGTTTAG	0.468																																						uc004enl.2		NaN																	0				ovary(1)	1						c.(1708-1710)GAG>CAG		midline 2 isoform 1							114.0	109.0	110.0					X																	107169434		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107169434G>C		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1708G>C	X.37:g.107169434G>C	ENSP00000262843:p.Glu570Gln					MID2_uc004enk.2_Missense_Mutation_p.E540Q	p.E570Q	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			9	2281	+			570			B30.2/SPRY.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1708G>C	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212105	0.79240	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.63580	-0.05;-0.05	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	M	0.66378	2.025	0.58432	D	0.999999	D;P	0.63046	0.992;0.823	P;P	0.60949	0.881;0.69	T	0.72090	-0.4395	10	0.30854	T	0.27	.	15.9038	0.79403	0.0:0.0:1.0:0.0	.	570;540	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	Q	570;540	ENSP00000262843:E570Q;ENSP00000413976:E540Q	ENSP00000262843:E570Q	E	+	1	0	MID2	107056090	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	2.354000	0.79902	0.600000	0.82982	GAG		0.468	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2		NM_012216		11	30	0	0	0	0.010729	0	11	30		
TMEM164	84187	broad.mit.edu	37	X	109416484	109416484	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:109416484G>A	ENST00000372073.1	+	7	1035	c.699G>A	c.(697-699)gtG>gtA	p.V233V	TMEM164_ENST00000372068.2_Silent_p.V233V|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372072.3_Silent_p.V84V|TMEM164_ENST00000288381.4_Silent_p.V194V			Q5U3C3	TM164_HUMAN	transmembrane protein 164	233						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						TCACCGAAGTGAATTTGAACA	0.557																																						uc004eom.2		NaN																	0				large_intestine(1)|lung(1)|skin(1)	3						c.(697-699)GTG>GTA		transmembrane protein 164 isoform b							122.0	93.0	103.0					X																	109416484		2203	4300	6503	SO:0001819	synonymous_variant	84187					integral to membrane		g.chrX:109416484G>A	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.699G>A	X.37:g.109416484G>A						TMEM164_uc004eol.2_Silent_p.V84V|TMEM164_uc010npq.2_Silent_p.V194V|TMEM164_uc004eon.1_5'Flank	p.V233V	NM_032227	NP_115603	Q5U3C3	TM164_HUMAN			7	1018	+			233					B3KSQ8|F5H2P2	Silent	SNP	ENST00000372073.1	37	c.699G>A	CCDS14550.2																																																																																				0.557	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1		NM_032227		23	79	0	0	0	0.00632	0	23	79		
DCX	1641	broad.mit.edu	37	X	110653275	110653275	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:110653275C>T	ENST00000338081.3	-	2	766	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	DCX_ENST00000371993.2_Missense_Mutation_p.E118K|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.E118K|DCX_ENST00000488120.1_Missense_Mutation_p.E118K|DCX_ENST00000356915.2_Missense_Mutation_p.E118K	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	199	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TCCTCCAGTTCATCCATGCTT	0.468																																						uc004epd.2		NaN																	0				central_nervous_system(2)|lung(1)|skin(1)	4						c.(595-597)GAA>AAA		doublecortin isoform a							181.0	150.0	160.0					X																	110653275		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653275C>T	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.595G>A	X.37:g.110653275C>T	ENSP00000337697:p.Glu199Lys					DCX_uc011msv.1_Missense_Mutation_p.E199K|DCX_uc004epe.2_Missense_Mutation_p.E118K|DCX_uc004epf.2_Missense_Mutation_p.E118K|DCX_uc004epg.2_Missense_Mutation_p.E118K	p.E199K	NM_000555	NP_000546	O43602	DCX_HUMAN			2	767	-			199			Doublecortin 1.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.595G>A	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.502776|4.502776	0.85176|0.85176	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120|ENST00000358070	D;D;D;D;D|.	0.87966|.	-2.32;-2.32;-2.32;-2.32;-2.32|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Doublecortin domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82098|0.82098	0.4963|0.4963	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	P;B|.	0.38048|.	0.616;0.114|.	P;B|.	0.54629|.	0.757;0.37|.	T|T	0.83184|0.83184	-0.0087|-0.0087	10|5	0.59425|.	D|.	0.04|.	.|.	18.4403|18.4403	0.90664|0.90664	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	187;199|.	B4DM53;O43602|.	.;DCX_HUMAN|.	K|I	118;118;199;118;118|190	ENSP00000349385:E118K;ENSP00000361061:E118K;ENSP00000337697:E199K;ENSP00000348553:E118K;ENSP00000419861:E118K|.	ENSP00000337697:E199K|.	E|M	-|-	1|3	0|0	DCX|DCX	110539931|110539931	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.750000|5.750000	0.68712|0.68712	2.551000|2.551000	0.86045|0.86045	0.600000|0.600000	0.82982|0.82982	GAA|ATG		0.468	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1		NM_178153		13	50	0	0	0	0.003163	0	13	50		
GPC4	2239	broad.mit.edu	37	X	132440162	132440162	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:132440162C>G	ENST00000370828.3	-	5	1422	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	GPC4_ENST00000535467.1_Missense_Mutation_p.E230Q	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	300					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TCTAGCCTCTCTGCCACCATC	0.393																																						uc004exc.1		NaN																	0					0						c.(898-900)GAG>CAG		glypican 4 precursor							134.0	116.0	122.0					X																	132440162		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132440162C>G	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.898G>C	X.37:g.132440162C>G	ENSP00000359864:p.Glu300Gln					GPC4_uc011mvg.1_Missense_Mutation_p.E230Q	p.E300Q	NM_001448	NP_001439	O75487	GPC4_HUMAN			5	1110	-	Acute lymphoblastic leukemia(192;0.000127)		300					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.898G>C	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	c	17.15	3.315068	0.60524	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.54071	0.59;0.59	5.78	5.78	0.91487	.	0.048896	0.85682	D	0.000000	T	0.65719	0.2718	M	0.83384	2.64	0.80722	D	1	B	0.30361	0.277	B	0.39590	0.304	T	0.68146	-0.5486	10	0.66056	D	0.02	-16.9227	17.8525	0.88751	0.0:1.0:0.0:0.0	.	300	O75487	GPC4_HUMAN	Q	300;294;230	ENSP00000359864:E300Q;ENSP00000444959:E230Q	ENSP00000359864:E300Q	E	-	1	0	GPC4	132267828	1.000000	0.71417	0.964000	0.40570	0.975000	0.68041	4.613000	0.61176	2.435000	0.82474	0.597000	0.82753	GAG		0.393	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1		NM_001448		17	82	0	0	0	0.006122	0	17	82		
MAGEC2	51438	broad.mit.edu	37	X	141291072	141291072	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:141291072C>T	ENST00000247452.3	-	3	1049	c.702G>A	c.(700-702)ctG>ctA	p.L234L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	234	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGATCACACTCAGAATAATAA	0.512										HNSCC(46;0.14)																												uc004fbu.1		NaN																	0				breast(2)	2						c.(700-702)CTG>CTA		melanoma antigen family C, 2							116.0	109.0	111.0					X																	141291072		2203	4300	6503	SO:0001819	synonymous_variant	51438					cytoplasm|nucleus		g.chrX:141291072C>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.702G>A	X.37:g.141291072C>T		HNSCC(46;0.14)					p.L234L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	1050	-	Acute lymphoblastic leukemia(192;6.56e-05)		234			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	ENST00000247452.3	37	c.702G>A	CCDS14678.1																																																																																				0.512	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1		NM_016249		16	94	0	0	0	0.010504	0	16	94		
AFF2	2334	broad.mit.edu	37	X	148037319	148037319	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:148037319G>A	ENST00000370460.2	+	11	2223	c.1744G>A	c.(1744-1746)Gaa>Aaa	p.E582K	AFF2_ENST00000342251.3_Missense_Mutation_p.E549K|AFF2_ENST00000370457.5_Missense_Mutation_p.E549K|AFF2_ENST00000286437.5_Missense_Mutation_p.E223K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	582					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCCAGCTGAACCCAAAGA	0.478																																						uc004fcp.2		NaN																	0				ovary(3)|pancreas(2)	5						c.(1744-1746)GAA>AAA		fragile X mental retardation 2							139.0	141.0	140.0					X																	148037319		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037319G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1744G>A	X.37:g.148037319G>A	ENSP00000359489:p.Glu582Lys					AFF2_uc004fcq.2_Missense_Mutation_p.E572K|AFF2_uc004fcr.2_Missense_Mutation_p.E543K|AFF2_uc011mxb.1_Missense_Mutation_p.E547K|AFF2_uc004fcs.2_Missense_Mutation_p.E549K|AFF2_uc011mxc.1_Missense_Mutation_p.E223K	p.E582K	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	2223	+	Acute lymphoblastic leukemia(192;6.56e-05)		582					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1744G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211985	0.58452	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.5	5.5	0.81552	.	0.353050	0.29473	N	0.012049	T	0.62756	0.2454	M	0.68317	2.08	0.34679	D	0.724487	P;B;B;B;P;P	0.36354	0.549;0.277;0.277;0.277;0.493;0.549	B;B;B;B;B;B	0.36418	0.224;0.143;0.143;0.143;0.143;0.224	T	0.70382	-0.4887	10	0.25751	T	0.34	.	18.4401	0.90664	0.0:0.0:1.0:0.0	.	223;547;549;543;572;582	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	K	582;549;549;223	ENSP00000359489:E582K;ENSP00000359486:E549K;ENSP00000345459:E549K;ENSP00000286437:E223K	ENSP00000286437:E223K	E	+	1	0	AFF2	147845019	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	8.605000	0.90883	2.295000	0.77249	0.556000	0.70494	GAA		0.478	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2		NM_002025		19	74	0	0	0	0.012319	0	19	74		
SLC6A8	6535	broad.mit.edu	37	X	152958597	152958597	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:152958597C>G	ENST00000253122.5	+	5	1355	c.879C>G	c.(877-879)ctC>ctG	p.L293L	SLC6A8_ENST00000430077.2_Silent_p.L178L|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	293					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TTTACTATCTCAAGCCTGACT	0.632																																						uc004fib.3		NaN																	0				pancreas(1)	1						c.(877-879)CTC>CTG		solute carrier family 6 member 8 isoform 1	Creatine(DB00148)						53.0	41.0	45.0					X																	152958597		2201	4298	6499	SO:0001819	synonymous_variant	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152958597C>G		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.879C>G	X.37:g.152958597C>G						SLC6A8_uc004fic.3_Silent_p.L293L|SLC6A8_uc011myx.1_Silent_p.L178L|SLC6A8_uc010nuj.2_RNA	p.L293L	NM_005629	NP_005620	P48029	SC6A8_HUMAN			5	1157	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		293			Extracellular (Potential).		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	c.879C>G	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	N	25.0	4.596427	0.86953	.	.	ENSG00000130821	ENST00000413787	.	.	.	4.88	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	9.7692	0.40578	0.0:0.6581:0.2603:0.0816	.	.	.	.	X	30	.	ENSP00000400463:S30X	S	+	2	0	SLC6A8	152611791	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	1.610000	0.36869	0.149000	0.19098	-2.079000	0.00380	TCA		0.632	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1				5	9	0	0	0	0.000602	0	5	9		
FAM50A	9130	broad.mit.edu	37	X	153674218	153674218	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:153674218G>C	ENST00000393600.3	+	3	365	c.255G>C	c.(253-255)gaG>gaC	p.E85D		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	85					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGAGCGGGAGAAGCAGCTGG	0.607																																						uc004fll.3		NaN																	0				ovary(1)	1						c.(253-255)GAG>GAC		XAP-5 protein							60.0	53.0	55.0					X																	153674218		2203	4300	6503	SO:0001583	missense	9130				spermatogenesis	nucleus		g.chrX:153674218G>C	BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9928 expressed sequence"""	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.255G>C	X.37:g.153674218G>C	ENSP00000377225:p.Glu85Asp						p.E85D	NM_004699	NP_004690	Q14320	FA50A_HUMAN			3	353	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		85					A8KAQ4|B2R997|Q5HY37|Q6PJH5	Missense_Mutation	SNP	ENST00000393600.3	37	c.255G>C	CCDS14751.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092187	0.76756	.	.	ENSG00000071859	ENST00000393600;ENST00000158526	.	.	.	5.13	2.96	0.34315	.	0.102064	0.64402	D	0.000003	T	0.64103	0.2568	M	0.66939	2.045	0.47153	D	0.999337	D	0.58620	0.983	P	0.53401	0.725	T	0.66352	-0.5945	9	0.54805	T	0.06	-26.7908	11.2085	0.48784	0.1948:0.0:0.8052:0.0	.	85	Q14320	FA50A_HUMAN	D	85;45	.	ENSP00000158526:E45D	E	+	3	2	FAM50A	153327412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.203000	0.65174	0.915000	0.36847	0.529000	0.55759	GAG		0.607	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081643.2		NM_004699		9	25	0	0	0	0.010729	0	9	25		
F8	2157	broad.mit.edu	37	X	154088779	154088779	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:154088779C>T	ENST00000360256.4	-	25	7028	c.6828G>A	c.(6826-6828)gtG>gtA	p.V2276V	F8_ENST00000330287.6_Silent_p.V141V	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2276	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGAACTCCTTCACATACATGC	0.433																																						uc004fmt.2		NaN																	0				ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(6826-6828)GTG>GTA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						161.0	141.0	148.0					X																	154088779		2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154088779C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6828G>A	X.37:g.154088779C>T						F8_uc004fms.2_Silent_p.V141V	p.V2276V	NM_000132	NP_000123	P00451	FA8_HUMAN			25	6999	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		2276			F5/8 type C 2.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.6828G>A	CCDS35457.1																																																																																				0.433	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4				14	60	0	0	0	0.004007	0	14	60		
TBL1Y	90665	broad.mit.edu	37	Y	6954349	6954349	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrY:6954349G>A	ENST00000383032.1	+	16	1818	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	TBL1Y_ENST00000346432.3_Missense_Mutation_p.D391N|TBL1Y_ENST00000355162.2_Missense_Mutation_p.D391N	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TATGAAGCAGGATGCATGCGT	0.547																																						uc004frb.2		NaN																	0					0						c.(1171-1173)GAT>AAT		transducin beta-like 1Y							54.0	56.0	55.0					Y																	6954349		599	1933	2532	SO:0001583	missense	90665				transcription, DNA-dependent			g.chrY:6954349G>A	AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"""WD repeat domain containing"""	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.1171G>A	Y.37:g.6954349G>A	ENSP00000372499:p.Asp391Asn					TBL1Y_uc004frc.2_Missense_Mutation_p.D391N|TBL1Y_uc004frd.2_Missense_Mutation_p.D391N|TBL1Y_uc011nap.1_Missense_Mutation_p.D233N	p.D391N	NM_033284	NP_150600	Q9BQ87	TBL1Y_HUMAN			16	1818	+			391			WD 5.		A1L4B3	Missense_Mutation	SNP	ENST00000383032.1	37	c.1171G>A	CCDS14779.1																																																																																				0.547	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085360.1		NM_033284		15	43	0	0	0	0.00499	0	15	43		
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-	rs149440400		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:154680586_154680588delGCT	ENST00000271915.4	-	8	2375_2377	c.2060_2062delAGC	c.(2059-2064)cagctc>ctc	p.Q687del	KCNN3_ENST00000358505.2_In_Frame_Del_p.Q374del|KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000361147.4_In_Frame_Del_p.Q382del	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	692					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GCAGACAGGAGCTGCTGCTGCTG	0.64																																						uc001ffp.2		NaN																	0				lung(1)	1						c.(2059-2064)CAGCTC>CTC		small conductance calcium-activated potassium																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154680586_154680588delGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.2060_2062delAGC	1.37:g.154680595_154680597delGCT	ENSP00000271915:p.Gln687del					KCNN3_uc001ffo.2_In_Frame_Del_p.Q382del	p.Q687del	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		8	2374_2376	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		692			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.2060_2062delAGC	CCDS30880.1																																																																																				0.640	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3		NM_002249		7	174	NaN	NaN	NaN	NaN	NaN	7	174	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48197472	48197473	+	Frame_Shift_Ins	INS	-	-	C	rs570764323	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:48197472_48197473insC	ENST00000396720.3	+	8	2578_2579	c.2384_2385insC	c.(2383-2388)caccccfs	p.HP795fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	795										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCTCCCCACACCCCACCCGGC	0.748																																						uc002phh.3		NaN																	0				pancreas(3)	3						c.(2383-2385)CACfs		glioma tumor suppressor candidate region gene 1																																				SO:0001589	frameshift_variant	29998						protein binding	g.chr19:48197472_48197473insC	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2388dupC	19.37:g.48197476_48197476dupC	ENSP00000379946:p.His795fs					GLTSCR1_uc002phi.3_Frame_Shift_Ins_p.H553fs	p.H795fs	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	8	2578_2579	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	795					A8MW01	Frame_Shift_Ins	INS	ENST00000396720.3	37	c.2384_2385insC	CCDS46134.1																																																																																				0.748	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1		NM_015711		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
C2orf16	84226	broad.mit.edu	37	2	27804926	27804927	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:27804926_27804927insTC	ENST00000408964.2	+	1	5538_5539	c.5487_5488insTC	c.(5488-5490)tctfs	p.S1830fs	AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1830	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGAGAGGAGATCTCACAGGTC	0.55																																						uc002rkz.3		NaN																	0				large_intestine(1)	1						c.(5485-5490)AGATCTfs		hypothetical protein LOC84226																																				SO:0001589	frameshift_variant	84226							g.chr2:27804926_27804927insTC	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5490_5491dupTC	2.37:g.27804929_27804930dupTC	ENSP00000386190:p.Ser1830fs					ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.R1829fs	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	5538_5539	+	Acute lymphoblastic leukemia(172;0.155)		1829_1830			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Frame_Shift_Ins	INS	ENST00000408964.2	37	c.5487_5488insTC	CCDS42666.1																																																																																				0.550	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1		NM_032266		11	49	NaN	NaN	NaN	NaN	NaN	11	49	---	---
EP300	2033	broad.mit.edu	37	22	41560132	41560133	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:41560132_41560133insG	ENST00000263253.7	+	22	5023_5024	c.3804_3805insG	c.(3805-3807)ggafs	p.G1269fs		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1269					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCTGGCCTGCTGGGTAAGTCTT	0.371			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(3802-3807)GCTGGAfs		E1A binding protein p300																																				SO:0001589	frameshift_variant	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41560132_41560133insG	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3806dupG	22.37:g.41560135_41560135dupG	ENSP00000263253:p.Gly1269fs						p.A1268fs	NM_001429	NP_001420	Q09472	EP300_HUMAN			22	4199_4200	+			1268_1269					B1AKC2	Frame_Shift_Ins	INS	ENST00000263253.7	37	c.3804_3805insG	CCDS14010.1																																																																																				0.371	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		20	164	NaN	NaN	NaN	NaN	NaN	20	164	---	---
CDKN1A	1026	broad.mit.edu	37	6	36652207	36652208	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:36652207_36652208insT	ENST00000405375.1	+	2	564_565	c.329_330insT	c.(328-333)catgtgfs	p.V111fs	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.V145fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.V111fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.V111fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	111					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GAGGAAGACCATGTGGACCTGT	0.658																																						uc003omm.3		NaN																	0				ovary(1)|breast(1)	2						c.(328-330)CATfs		cyclin-dependent kinase inhibitor 1A																																				SO:0001589	frameshift_variant	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652207_36652208insT	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.330dupT	6.37:g.36652208_36652208dupT	ENSP00000384849:p.Val111fs					CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.H144fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.H110fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.H110fs	p.H110fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	451_452	+			110					Q14010|Q6FI05|Q9BUT4	Frame_Shift_Ins	INS	ENST00000405375.1	37	c.329_330insT	CCDS4824.1																																																																																				0.658	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		14	16	NaN	NaN	NaN	NaN	NaN	14	16	---	---
EZR	7430	broad.mit.edu	37	6	159210405	159210406	+	Splice_Site	INS	-	-	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:159210405_159210406insA	ENST00000367075.3	-	3	181		c.e3-2		EZR_ENST00000337147.7_Splice_Site|EZR_ENST00000476189.1_Splice_Site|EZR_ENST00000392177.4_Splice_Site	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin						actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GACATTGATCTGAAAAACAGAA	0.426			T	ROS1	NSCLC																																	uc003qrt.3		NaN		Dom	yes		6	6q25.3	7430		ezrin			E					0				ovary(1)	1						c.e2-1		ezrin																																				SO:0001630	splice_region_variant	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159210405_159210406insA	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.13-2->T	6.37:g.159210405_159210406insA						EZR_uc011efs.1_Splice_Site_p.I5_splice|EZR_uc003qru.3_Splice_Site_p.I5_splice	p.I5_splice	NM_003379	NP_003370	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	2	228	-		Breast(66;0.000776)|Ovarian(120;0.0303)						E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Splice_Site	INS	ENST00000367075.3	37	c.13_splice	CCDS5258.1																																																																																				0.426	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1		NM_003379	Intron	8	40	NaN	NaN	NaN	NaN	NaN	8	40	---	---
KDM5D	8284	broad.mit.edu	37	Y	21868143	21868143	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrY:21868143delT	ENST00000317961.4	-	27	4629	c.4358delA	c.(4357-4359)aacfs	p.N1453fs	KDM5D_ENST00000541639.1_Frame_Shift_Del_p.N1484fs|KDM5D_ENST00000382806.2_Frame_Shift_Del_p.N1396fs	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1453					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	ATTCTCAACGTTTCTACCCTG	0.512																																						uc004fug.2		NaN																	0				skin(1)	1						c.(4357-4359)AACfs		jumonji, AT rich interactive domain 1D isoform	Vitamin C(DB00126)						49.0	55.0	54.0					Y																	21868143		582	1891	2473	SO:0001589	frameshift_variant	8284				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrY:21868143delT	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.4358delA	Y.37:g.21868143delT	ENSP00000322408:p.Asn1453fs					KDM5D_uc011naz.1_Frame_Shift_Del_p.N1484fs|KDM5D_uc010nwy.2_Frame_Shift_Del_p.N1396fs|KDM5D_uc004fuf.2_Frame_Shift_Del_p.N628fs	p.N1453fs	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN			27	4646	-			1453					A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Frame_Shift_Del	DEL	ENST00000317961.4	37	c.4358delA	CCDS14794.1																																																																																				0.512	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1		NM_004653		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
