#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HSPG2	3339	broad.mit.edu	37	1	22173889	22173889	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:22173889A>G	ENST00000374695.3	-	62	8201	c.8122T>C	c.(8122-8124)Tcc>Ccc	p.S2708P	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2708	Ig-like C2-type 12.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ATGACGATGGAGGCCTCCAGG	0.627																																						uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(8122-8124)TCC>CCC		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						102.0	99.0	100.0					1																	22173889		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22173889A>G	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8122T>C	1.37:g.22173889A>G	ENSP00000363827:p.Ser2708Pro					HSPG2_uc009vqd.2_Missense_Mutation_p.S2709P	p.S2708P	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	62	8162	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2708			Ig-like C2-type 12.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8122T>C	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.505684	0.64410	.	.	ENSG00000142798	ENST00000374695;ENST00000453796	T;T	0.69175	-0.38;-0.38	5.5	5.5	0.81552	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39475	N	0.001342	D	0.83101	0.5181	M	0.88105	2.93	0.44635	D	0.997618	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	D	0.83516	0.0083	10	0.30854	T	0.27	.	13.5929	0.61969	1.0:0.0:0.0:0.0	.	648;2708	Q59EG0;P98160	.;PGBM_HUMAN	P	2708;123	ENSP00000363827:S2708P;ENSP00000396310:S123P	ENSP00000363827:S2708P	S	-	1	0	HSPG2	22046476	0.998000	0.40836	1.000000	0.80357	0.695000	0.40330	1.930000	0.40124	2.094000	0.63399	0.528000	0.53228	TCC		0.627	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		3	99	0	0	0	0	3	99				
SYTL1	84958	broad.mit.edu	37	1	27676942	27676942	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:27676942G>A	ENST00000543823.1	+	9	1433	c.971G>A	c.(970-972)cGg>cAg	p.R324Q	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.R312Q			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	324	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)	p.R312Q(1)		NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTGAAGAAACGGAATCTGAAT	0.602																																						uc001bnw.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(970-972)CGG>CAG		synaptotagmin-like 1							108.0	94.0	98.0					1																	27676942		2203	4300	6503	SO:0001583	missense	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27676942G>A	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.971G>A	1.37:g.27676942G>A	ENSP00000440704:p.Arg324Gln					SYTL1_uc001bnv.1_Missense_Mutation_p.R312Q|SYTL1_uc009vsu.1_Missense_Mutation_p.R312Q|SYTL1_uc001bnx.2_3'UTR|SYTL1_uc009vsv.1_Missense_Mutation_p.R324Q	p.R324Q	NM_032872	NP_116261	Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	10	1138	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	324			C2 1.		Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	c.971G>A	CCDS53286.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.943634|4.943634	0.92593|0.92593	.|.	.|.	ENSG00000142765|ENSG00000142765	ENST00000496001|ENST00000318074;ENST00000543823;ENST00000485269	.|T;T	.|0.68903	.|-0.36;-0.36	3.69|3.69	3.69|3.69	0.42338|0.42338	.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.063981	.|0.64402	.|D	.|0.000010	T|T	0.64416|0.64416	0.2596|0.2596	L|L	0.37850|0.37850	1.14|1.14	0.31908|0.31908	N|N	0.615076|0.615076	.|D;D;P	.|0.61080	.|0.972;0.989;0.926	.|P;P;P	.|0.54270	.|0.747;0.548;0.531	T|T	0.70008|0.70008	-0.4990|-0.4990	5|10	.|0.59425	.|D	.|0.04	-12.8547|-12.8547	8.7024|8.7024	0.34334|0.34334	0.1097:0.0:0.8903:0.0|0.1097:0.0:0.8903:0.0	.|.	.|324;324;312	.|A8KAH3;Q8IYJ3;Q8IYJ3-2	.|.;SYTL1_HUMAN;.	R|Q	172|312;324;77	.|ENSP00000316464:R312Q;ENSP00000440704:R324Q	.|ENSP00000316464:R312Q	G|R	+|+	1|2	0|0	SYTL1|SYTL1	27549529|27549529	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.972000|0.972000	0.66771|0.66771	5.595000|5.595000	0.67563|0.67563	2.062000|2.062000	0.61559|0.61559	0.462000|0.462000	0.41574|0.41574	GGA|CGG		0.602	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		42	56	0	0	0	0	42	56				
PTPRU	10076	broad.mit.edu	37	1	29650167	29650167	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:29650167C>T	ENST00000345512.3	+	29	4138	c.4009C>T	c.(4009-4011)Cgg>Tgg	p.R1337W	PTPRU_ENST00000356870.3_Missense_Mutation_p.R1333W|PTPRU_ENST00000460170.2_Missense_Mutation_p.R1331W|PTPRU_ENST00000428026.2_Missense_Mutation_p.R1324W|PTPRU_ENST00000373779.3_Missense_Mutation_p.R1327W|PTPRU_ENST00000323874.8_Missense_Mutation_p.R1333W	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1337	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCTGCTGGTGCGGCACTTCCA	0.642																																						uc001bru.2		NA																	0				large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(4009-4011)CGG>TGG		protein tyrosine phosphatase, receptor type, U							49.0	42.0	44.0					1																	29650167		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29650167C>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.4009C>T	1.37:g.29650167C>T	ENSP00000334941:p.Arg1337Trp					PTPRU_uc001brv.2_Missense_Mutation_p.R1333W|PTPRU_uc001brw.2_Missense_Mutation_p.R1327W|PTPRU_uc009vtq.2_Missense_Mutation_p.R1331W|PTPRU_uc009vtr.2_Missense_Mutation_p.R1324W|PTPRU_uc001brx.2_Missense_Mutation_p.R63W	p.R1337W	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	29	4119	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1337			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.4009C>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252642	0.59212	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49	3.75	2.82	0.32997	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.161948	0.42172	U	0.000748	T	0.30634	0.0771	M	0.66297	2.02	0.40735	D	0.98278	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.73708	0.967;0.967;0.967;0.981;0.981	T	0.02698	-1.1122	9	.	.	.	.	10.2187	0.43184	0.3595:0.6404:0.0:0.0	.	1324;1331;1327;1333;1337	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	W	1337;1327;1333;1333;1324;1331	ENSP00000334941:R1337W;ENSP00000362884:R1327W;ENSP00000349333:R1333W;ENSP00000314987:R1333W;ENSP00000392332:R1324W;ENSP00000432906:R1331W	.	R	+	1	2	PTPRU	29522754	0.994000	0.37717	0.999000	0.59377	0.997000	0.91878	0.733000	0.26087	0.892000	0.36259	0.462000	0.41574	CGG		0.642	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			31	26	0	0	0	0	31	26				
PTPRF	5792	broad.mit.edu	37	1	44085815	44085815	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:44085815G>A	ENST00000359947.4	+	30	5501	c.5161G>A	c.(5161-5163)Gag>Aag	p.E1721K	PTPRF_ENST00000372413.3_Missense_Mutation_p.E1712K|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1080K|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1712K|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1721K|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1721	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1711Q(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGAGAGCACCGAGGACTTCTG	0.592																																						uc001cjr.2		NA																	1	Substitution - Missense(1)	p.E1711Q(1)	ovary(1)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(5161-5163)GAG>AAG		protein tyrosine phosphatase, receptor type, F							110.0	105.0	106.0					1																	44085815		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44085815G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5161G>A	1.37:g.44085815G>A	ENSP00000353030:p.Glu1721Lys					PTPRF_uc001cjs.2_Missense_Mutation_p.E1712K|PTPRF_uc001cju.2_Missense_Mutation_p.E1110K|PTPRF_uc009vwt.2_Missense_Mutation_p.E1281K|PTPRF_uc001cjv.2_Missense_Mutation_p.E1192K|PTPRF_uc001cjw.2_Missense_Mutation_p.E947K	p.E1721K	NM_002840	NP_002831	P10586	PTPRF_HUMAN			30	5501	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1721			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.5161G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.358865|4.358865	0.82353|0.82353	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	D;D;D;D;D;D|.	0.84660|.	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88|.	4.97|4.97	4.97|4.97	0.65823|0.65823	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	0.000000|.	0.34750|.	N|.	0.003714|.	T|T	0.74809|0.74809	0.3765|0.3765	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	P;P;D;D;D|.	0.89917|.	0.563;0.842;0.969;0.999;1.0|.	B;B;P;D;D|.	0.87578|.	0.092;0.438;0.656;0.982;0.998|.	T|T	0.73385|0.73385	-0.3999|-0.3999	10|5	0.30854|.	T|.	0.27|.	.|.	19.129|19.129	0.93397|0.93397	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1366;1080;1298;1712;1721|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	K|Q	1721;1712;1721;1712;1080;793|1104;1145	ENSP00000353030:E1721K;ENSP00000398822:E1712K;ENSP00000361491:E1721K;ENSP00000361490:E1712K;ENSP00000387885:E1080K;ENSP00000361484:E793K|.	ENSP00000353030:E1721K|.	E|R	+|+	1|2	0|0	PTPRF|PTPRF	43858402|43858402	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.807000|9.807000	0.99171|0.99171	2.700000|2.700000	0.92200|0.92200	0.563000|0.563000	0.77884|0.77884	GAG|CGA		0.592	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			70	60	0	0	0	0	70	60				
DDX20	11218	broad.mit.edu	37	1	112303130	112303130	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:112303130G>A	ENST00000369702.4	+	4	1220	c.600G>A	c.(598-600)ttG>ttA	p.L200L	DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	200	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGACTACTTGAACCCAGGCA	0.313																																						uc001ebs.2		NA																	0				lung(1)|kidney(1)	2						c.(598-600)TTG>TTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							95.0	104.0	101.0					1																	112303130		2203	4299	6502	SO:0001819	synonymous_variant	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112303130G>A	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.600G>A	1.37:g.112303130G>A						DDX20_uc010owf.1_5'UTR|DDX20_uc001ebt.2_5'UTR	p.L200L	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	957	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	200			Helicase ATP-binding.		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Silent	SNP	ENST00000369702.4	37	c.600G>A	CCDS842.1																																																																																				0.313	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		56	64	0	0	0	0	56	64				
MAGI3	260425	broad.mit.edu	37	1	114215339	114215339	+	Silent	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:114215339A>G	ENST00000307546.9	+	18	3096	c.3021A>G	c.(3019-3021)tcA>tcG	p.S1007S	MAGI3_ENST00000369617.4_Silent_p.S1032S|MAGI3_ENST00000369615.1_Silent_p.S1007S|MAGI3_ENST00000369611.4_Silent_p.S1007S	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1032					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)		CAGTAATTTCAGTTGTAGGCA	0.448																																						uc001edk.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(3019-3021)TCA>TCG		membrane-associated guanylate kinase-related  3							209.0	208.0	208.0					1																	114215339		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114215339A>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.3021A>G	1.37:g.114215339A>G						MAGI3_uc001edh.3_Silent_p.S1032S|MAGI3_uc001edi.3_Silent_p.S1007S|MAGI3_uc010owm.1_Silent_p.S1032S|MAGI3_uc001edj.2_Silent_p.S728S	p.S1007S	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)	18	3202	+	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)	1032					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.3021A>G	CCDS44196.1																																																																																				0.448	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	261	0	0	0	0	4	261				
PEX11B	8799	broad.mit.edu	37	1	145522726	145522726	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:145522726T>G	ENST00000369306.3	+	4	736	c.587T>G	c.(586-588)cTc>cGc	p.L196R	ITGA10_ENST00000369304.3_5'Flank|ITGA10_ENST00000538811.1_5'Flank|PEX11B_ENST00000537888.1_Missense_Mutation_p.L182R|ITGA10_ENST00000539363.1_5'Flank	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	196					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)					CAAGTCCTGCTCCTGGCTCGA	0.582																																						uc001eny.1		NA																	0					0						c.(586-588)CTC>CGC		peroxisomal biogenesis factor 11 beta							112.0	103.0	106.0					1																	145522726		2203	4300	6503	SO:0001583	missense	8799				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding	g.chr1:145522726T>G	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.587T>G	1.37:g.145522726T>G	ENSP00000358312:p.Leu196Arg					NBPF10_uc001emp.3_Intron|PEX11B_uc010oyu.1_Missense_Mutation_p.L182R|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.2_5'Flank|ITGA10_uc010oyv.1_5'Flank|ITGA10_uc009wiw.2_5'Flank	p.L196R	NM_003846	NP_003837	O96011	PX11B_HUMAN			4	605	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		196					B3KN85|B4DXH9|Q96ET2	Missense_Mutation	SNP	ENST00000369306.3	37	c.587T>G	CCDS917.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.460049	0.63401	.	.	ENSG00000131779	ENST00000369306;ENST00000537888;ENST00000428634	T;T	0.53640	0.61;0.61	5.17	5.17	0.71159	.	0.142664	0.47093	D	0.000242	T	0.54791	0.1880	M	0.61703	1.905	0.58432	D	0.999992	D;D	0.69078	0.997;0.997	D;D	0.66351	0.943;0.921	T	0.59516	-0.7440	10	0.59425	D	0.04	-9.4787	13.0156	0.58754	0.0:0.0:0.0:1.0	.	182;196	B4DXH9;O96011	.;PX11B_HUMAN	R	196;182;18	ENSP00000358312:L196R;ENSP00000437510:L182R	ENSP00000358312:L196R	L	+	2	0	PEX11B	144234083	1.000000	0.71417	0.949000	0.38748	0.761000	0.43186	5.190000	0.65104	2.169000	0.68431	0.533000	0.62120	CTC		0.582	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038549.1	NM_003846		3	92	0	0	0	0	3	92				
RPRD2	23248	broad.mit.edu	37	1	150445676	150445676	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:150445676C>T	ENST00000369068.4	+	11	4256	c.4252C>T	c.(4252-4254)Cgg>Tgg	p.R1418W	RPRD2_ENST00000401000.4_Missense_Mutation_p.R1392W|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1418	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACGGAGTCCCCGGCCAGACTT	0.582																																						uc009wlr.2		NA																	0				ovary(1)	1						c.(4252-4254)CGG>TGG		Regulation of nuclear pre-mRNA domain containing							73.0	76.0	75.0					1																	150445676		1916	4117	6033	SO:0001583	missense	23248						protein binding	g.chr1:150445676C>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.4252C>T	1.37:g.150445676C>T	ENSP00000358064:p.Arg1418Trp					RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.R1392W	p.R1418W	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			11	4453	+			1418			Pro-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.4252C>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174959	0.57692	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.61274	0.12;0.12	4.47	3.55	0.40652	.	0.000000	0.64402	D	0.000019	T	0.23572	0.0570	N	0.24115	0.695	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.17349	-1.0372	10	0.87932	D	0	-1.5877	6.8565	0.24044	0.1731:0.737:0.0:0.0899	.	1418;1392	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	W	1392;1418	ENSP00000383785:R1392W;ENSP00000358064:R1418W	ENSP00000358064:R1418W	R	+	1	2	RPRD2	148712300	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.142000	0.42177	1.077000	0.40990	0.655000	0.94253	CGG		0.582	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		76	47	0	0	0	0	76	47				
ATP1A4	480	broad.mit.edu	37	1	160141474	160141474	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:160141474T>C	ENST00000368081.4	+	12	2252	c.1781T>C	c.(1780-1782)cTc>cCc	p.L594P	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	594					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTGTGGGCCTCATATCCATG	0.488																																						uc001fve.3		NA																	0				ovary(2)|skin(2)	4						c.(1780-1782)CTC>CCC		Na+/K+ -ATPase alpha 4 subunit isoform 1							138.0	144.0	142.0					1																	160141474		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160141474T>C	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1781T>C	1.37:g.160141474T>C	ENSP00000357060:p.Leu594Pro					ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.L97P	p.L594P	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		12	2260	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		594			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.1781T>C	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.762532	0.69763	.	.	ENSG00000132681	ENST00000368081	D	0.83506	-1.73	4.19	4.19	0.49359	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.93327	0.7873	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94820	0.7986	10	0.87932	D	0	.	11.5356	0.50634	0.0:0.0:0.0:1.0	.	594	Q13733	AT1A4_HUMAN	P	594	ENSP00000357060:L594P	ENSP00000357060:L594P	L	+	2	0	ATP1A4	158408098	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.852000	0.86927	1.898000	0.54952	0.533000	0.62120	CTC		0.488	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		3	192	0	0	0	0	3	192				
SELP	6403	broad.mit.edu	37	1	169580906	169580906	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:169580906C>T	ENST00000263686.6	-	7	1008	c.971G>A	c.(970-972)tGt>tAt	p.C324Y	SELP_ENST00000367792.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C262Y|SELP_ENST00000367786.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.C262Y	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	324	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CAGGTGCTGACACTGCACAGC	0.507																																						uc001ggi.3		NA																	0				ovary(2)|skin(2)	4						c.(970-972)TGT>TAT		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						91.0	92.0	92.0					1																	169580906		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169580906C>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.971G>A	1.37:g.169580906C>T	ENSP00000263686:p.Cys324Tyr					SELP_uc001ggh.2_Missense_Mutation_p.C159Y|SELP_uc009wvr.2_Missense_Mutation_p.C324Y	p.C324Y	NM_003005	NP_002996	P16109	LYAM3_HUMAN			7	1036	-	all_hematologic(923;0.208)		324			Sushi 3.|Extracellular (Potential).		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.971G>A	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205138	0.58234	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367788	D;D;D	0.99201	-5.55;-3.27;-3.27	5.19	5.19	0.71726	Complement control module (2);Sushi/SCR/CCP (2);	0.000000	0.64402	D	0.000007	D	0.99597	0.9854	H	0.98276	4.19	0.80722	D	1	D;D;D	0.76494	0.995;0.997;0.999	D;D;D	0.69479	0.929;0.964;0.939	D	0.97742	1.0209	10	0.87932	D	0	-2.5107	15.453	0.75290	0.0:1.0:0.0:0.0	.	324;324;324	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	Y	324;323;324;324;262;262	ENSP00000263686:C324Y;ENSP00000356767:C262Y;ENSP00000356762:C262Y	ENSP00000263686:C324Y	C	-	2	0	SELP	167847530	0.014000	0.17966	0.065000	0.19835	0.229000	0.25112	1.588000	0.36633	2.415000	0.81967	0.655000	0.94253	TGT		0.507	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		54	61	0	0	0	0	54	61				
METTL13	51603	broad.mit.edu	37	1	171753042	171753042	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:171753042A>C	ENST00000361735.3	+	2	582	c.316A>C	c.(316-318)Acg>Ccg	p.T106P	METTL13_ENST00000362019.3_Missense_Mutation_p.T20P|METTL13_ENST00000367737.5_Missense_Mutation_p.T106P|METTL13_ENST00000458517.1_Missense_Mutation_p.T105P	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	106							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GATGGACATGACGCAGATGGA	0.502																																						uc001ghz.2		NA																	0				kidney(1)	1						c.(316-318)ACG>CCG		CGI-01 protein isoform 1							135.0	120.0	125.0					1																	171753042		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171753042A>C	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.316A>C	1.37:g.171753042A>C	ENSP00000354920:p.Thr106Pro					METTL13_uc001gia.2_Missense_Mutation_p.T20P|METTL13_uc001gib.2_Missense_Mutation_p.T106P|METTL13_uc010pml.1_Missense_Mutation_p.T105P	p.T106P	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN			2	663	+			106					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.316A>C	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628098	0.66901	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.64438	0.29;0.29;-0.1;0.29;0.29	5.33	5.33	0.75918	Methyltransferase type 11 (1);	0.153691	0.56097	D	0.000026	T	0.68933	0.3055	M	0.78049	2.395	0.58432	D	0.999996	D;P;D	0.55605	0.972;0.946;0.966	P;P;P	0.62491	0.903;0.714;0.831	T	0.72054	-0.4406	10	0.44086	T	0.13	-15.5342	11.4196	0.49974	0.8045:0.1955:0.0:0.0	.	105;106;106	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	P	105;20;106;106;23;20	ENSP00000401955:T105P;ENSP00000355393:T20P;ENSP00000356711:T106P;ENSP00000354920:T106P;ENSP00000356710:T23P	ENSP00000341732:T20P	T	+	1	0	METTL13	170019665	1.000000	0.71417	0.929000	0.37066	0.729000	0.41735	6.641000	0.74324	1.987000	0.57996	0.533000	0.62120	ACG		0.502	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		42	32	0	0	0	0	42	32				
PRG4	10216	broad.mit.edu	37	1	186277190	186277190	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:186277190G>A	ENST00000445192.2	+	7	2384	c.2339G>A	c.(2338-2340)gGg>gAg	p.G780E	PRG4_ENST00000367483.4_Missense_Mutation_p.G739E|PRG4_ENST00000367486.3_Missense_Mutation_p.G737E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.G687E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	780	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCCTAAGGGGACTGCTCCA	0.607																																						uc001gru.3		NA																	0				skin(1)	1						c.(2338-2340)GGG>GAG		proteoglycan 4 isoform A							175.0	197.0	190.0					1																	186277190		2203	4299	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277190G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2339G>A	1.37:g.186277190G>A	ENSP00000399679:p.Gly780Glu					PRG4_uc001grt.3_Missense_Mutation_p.G739E|PRG4_uc009wyl.2_Missense_Mutation_p.G687E|PRG4_uc009wym.2_Missense_Mutation_p.G646E|PRG4_uc010poo.1_Intron	p.G780E	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	2390	+			780			51; approximate.|59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2339G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	0.878	-0.729726	0.03135	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04706	3.59;3.7;3.57;3.7	0.789	-1.58	0.08479	.	1.018730	0.07906	N	0.973555	T	0.01254	0.0041	N	0.00707	-1.245	0.09310	N	1	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	0.47923	-0.9079	9	.	.	.	.	2.9532	0.05868	0.6619:0.0:0.3381:0.0	.	646;687;780;739	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	E	737;646;739;687;780	ENSP00000356456:G737E;ENSP00000356453:G739E;ENSP00000356455:G687E;ENSP00000399679:G780E	.	G	+	2	0	PRG4	184543813	0.001000	0.12720	0.004000	0.12327	0.008000	0.06430	-1.632000	0.02024	-0.199000	0.10317	-0.735000	0.03563	GGG		0.607	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	231	0	0	0	0	5	231				
SPATA17	128153	broad.mit.edu	37	1	217856693	217856693	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:217856693G>T	ENST00000366933.4	+	5	440	c.385G>T	c.(385-387)Gat>Tat	p.D129Y		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	129						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGAGACCAATGATGCAATTAG	0.343																																						uc001hlh.1		NA																	0				pancreas(1)	1						c.(385-387)GAT>TAT		spermatogenesis associated 17							90.0	104.0	100.0					1																	217856693		2200	4300	6500	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217856693G>T	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.385G>T	1.37:g.217856693G>T	ENSP00000355900:p.Asp129Tyr					SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.D129Y	p.D129Y	NM_138796	NP_620151	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	5	411	+			129					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.385G>T	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699895	0.48307	.	.	ENSG00000162814	ENST00000366933	T	0.46819	0.86	5.43	4.46	0.54185	.	0.364852	0.30036	N	0.010575	T	0.47210	0.1433	L	0.56769	1.78	0.37742	D	0.925671	P	0.46220	0.874	B	0.43990	0.438	T	0.58086	-0.7698	10	0.72032	D	0.01	-5.0851	11.2949	0.49272	0.0747:0.14:0.7853:0.0	.	129	Q96L03	SPT17_HUMAN	Y	129	ENSP00000355900:D129Y	ENSP00000355900:D129Y	D	+	1	0	SPATA17	215923316	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.808000	0.62583	2.537000	0.85549	0.555000	0.69702	GAT		0.343	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		61	60	1	0	4.09e-25	9.2e-25	61	60				
VN1R5	317705	broad.mit.edu	37	1	247420369	247420369	+	IGR	SNP	A	A	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:247420369A>C								RP11-488L18.8 (15244 upstream) : Y_RNA (37767 downstream)																							AGACTCTGCAAAtgttatggt	0.383																																						uc010pyu.1		NA																	0					0						c.(994-996)CAA>CAC		vomeronasal 1 receptor 5							40.0	38.0	38.0					1																	247420369		1852	4098	5950	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247420369A>C																													1.37:g.247420369A>C							p.Q332H	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		2	996	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	332			Cytoplasmic (Potential).			Missense_Mutation	SNP		37	c.996A>C																																																																																				0	0.383									4	37	0	0	0	0	4	37				
FAM171A1	221061	broad.mit.edu	37	10	15255111	15255111	+	Missense_Mutation	SNP	C	C	T	rs377569437		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:15255111C>T	ENST00000378116.4	-	8	2482	c.2476G>A	c.(2476-2478)Ggc>Agc	p.G826S	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	826						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCAGCTGGCCACCACTTCTC	0.647																																						uc001iob.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(2476-2478)GGC>AGC		hypothetical protein LOC221061 precursor							58.0	63.0	61.0					10																	15255111		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15255111C>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2476G>A	10.37:g.15255111C>T	ENSP00000367356:p.Gly826Ser						p.G826S	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			8	2483	-			826			Cytoplasmic (Potential).		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.2476G>A	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	1.718	-0.497259	0.04291	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.27890	1.64	4.58	3.65	0.41850	.	0.479844	0.21477	N	0.073900	T	0.13628	0.0330	N	0.12182	0.205	0.33215	D	0.553905	B	0.02656	0.0	B	0.12837	0.008	T	0.15983	-1.0418	10	0.02654	T	1	-32.5608	9.6565	0.39930	0.0:0.8389:0.0:0.1611	.	826	Q5VUB5	F1711_HUMAN	S	826;825	ENSP00000367356:G826S	ENSP00000367356:G826S	G	-	1	0	FAM171A1	15295117	0.019000	0.18553	0.982000	0.44146	0.546000	0.35178	0.013000	0.13310	2.393000	0.81446	0.563000	0.77884	GGC		0.647	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		14	68	0	0	0	0	14	68				
RBP3	5949	broad.mit.edu	37	10	48388751	48388751	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:48388751C>T	ENST00000224600.4	-	1	2240	c.2127G>A	c.(2125-2127)gtG>gtA	p.V709V	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	709	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)	CTTCCTCTACCACCAGCTCGC	0.627																																						uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2125-2127)GTG>GTA		retinol-binding protein 3 precursor	Vitamin A(DB00162)						34.0	38.0	37.0					10																	48388751		2201	4297	6498	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388751C>T	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.2127G>A	10.37:g.48388751C>T							p.V709V	NM_002900	NP_002891	P10745	RET3_HUMAN			1	2241	-			709			4 X approximate tandem repeats.|3.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.2127G>A	CCDS7218.1																																																																																				0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		15	51	0	0	0	0	15	51				
C10orf12	26148	broad.mit.edu	37	10	98743187	98743187	+	Silent	SNP	T	T	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:98743187T>A	ENST00000286067.2	+	1	2147	c.2040T>A	c.(2038-2040)gcT>gcA	p.A680A		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	680										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGGAGGAGGCTGTGAATGAGG	0.498																																						uc001kmv.2		NA																	0				skin(2)	2						c.(2038-2040)GCT>GCA		hypothetical protein LOC26148							74.0	66.0	69.0					10																	98743187		2203	4300	6503	SO:0001819	synonymous_variant	26148							g.chr10:98743187T>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2040T>A	10.37:g.98743187T>A							p.A680A	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	2147	+		Colorectal(252;0.172)	680					Q9H945|Q9Y457	Silent	SNP	ENST00000286067.2	37	c.2040T>A	CCDS7452.1																																																																																				0.498	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		12	58	0	0	0	0	12	58				
C10orf12	26148	broad.mit.edu	37	10	98744511	98744511	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:98744511C>T	ENST00000286067.2	+	1	3471	c.3364C>T	c.(3364-3366)Cct>Tct	p.P1122S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1122										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CACCAAAACCCCTGCTGCCAA	0.517																																						uc001kmv.2		NA																	0				skin(2)	2						c.(3364-3366)CCT>TCT		hypothetical protein LOC26148							53.0	58.0	56.0					10																	98744511		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98744511C>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.3364C>T	10.37:g.98744511C>T	ENSP00000286067:p.Pro1122Ser						p.P1122S	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	3471	+		Colorectal(252;0.172)	1122					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.3364C>T	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	C	1.093	-0.663508	0.03428	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.10099	2.91	5.37	-1.75	0.08031	.	0.464980	0.17832	N	0.160489	T	0.03390	0.0098	N	0.11201	0.11	0.09310	N	1	B	0.16603	0.018	B	0.14578	0.011	T	0.43180	-0.9407	10	0.02654	T	1	-0.2473	5.2273	0.15401	0.2136:0.4416:0.0:0.3448	.	1122	Q8N655	CJ012_HUMAN	S	1122;956	ENSP00000286067:P1122S	ENSP00000286067:P1122S	P	+	1	0	C10orf12	98734501	0.000000	0.05858	0.036000	0.18154	0.471000	0.32888	0.071000	0.14594	-0.205000	0.10219	-0.291000	0.09656	CCT		0.517	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		10	62	0	0	0	0	10	62				
MGEA5	10724	broad.mit.edu	37	10	103558656	103558656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:103558656C>T	ENST00000361464.3	-	9	2147	c.1752G>A	c.(1750-1752)tgG>tgA	p.W584*	MGEA5_ENST00000357797.5_Nonsense_Mutation_p.W531*|MGEA5_ENST00000439817.1_Nonsense_Mutation_p.W531*|MGEA5_ENST00000370094.3_Nonsense_Mutation_p.W584*|MGEA5_ENST00000482611.1_5'UTR	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	584					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTGCTCGAAGCCATTGAAATT	0.443																																						uc001ktv.2		NA																	0				ovary(2)|skin(1)	3						c.(1750-1752)TGG>TGA		meningioma expressed antigen 5 (hyaluronidase)							143.0	138.0	140.0					10																	103558656		2203	4300	6503	SO:0001587	stop_gained	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103558656C>T	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1752G>A	10.37:g.103558656C>T	ENSP00000354850:p.Trp584*					MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Nonsense_Mutation_p.W531*|MGEA5_uc009xws.2_Nonsense_Mutation_p.W531*|MGEA5_uc001ktw.2_Nonsense_Mutation_p.W584*|MGEA5_uc009xwt.2_Nonsense_Mutation_p.W347*	p.W584*	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	9	2195	-		Colorectal(252;0.207)	584			Histone acetyltransferase activity (By similarity).		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Nonsense_Mutation	SNP	ENST00000361464.3	37	c.1752G>A	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	C	41	8.732329	0.98933	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8024	20.1876	0.98223	0.0:1.0:0.0:0.0	.	.	.	.	X	531;584;531;584	.	ENSP00000350445:W531X	W	-	3	0	MGEA5	103548646	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.761000	0.85260	2.765000	0.95021	0.655000	0.94253	TGG		0.443	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		11	91	0	0	0	0	11	91				
SFR1	119392	broad.mit.edu	37	10	105882813	105882813	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:105882813C>T	ENST00000369727.3	+	2	123	c.104C>T	c.(103-105)tCa>tTa	p.S35L	SFR1_ENST00000463224.1_3'UTR|SFR1_ENST00000336358.5_Missense_Mutation_p.S97L|SFR1_ENST00000369729.3_Missense_Mutation_p.S22L	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	35					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)		p.S22L(1)									GCGAATCCATCATCTCCCTAT	0.398																																						uc001kxu.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(103-105)TCA>TTA		hypothetical protein LOC119392 isoform a							96.0	95.0	95.0					10																	105882813		2203	4300	6503	SO:0001583	missense	119392				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr10:105882813C>T	BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 78"", ""MEI5 recombination repair protein homolog (S. cerevisiae)"""	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.104C>T	10.37:g.105882813C>T	ENSP00000358742:p.Ser35Leu					C10orf78_uc001kxs.2_Missense_Mutation_p.S22L|C10orf78_uc001kxt.2_5'UTR|C10orf78_uc001kxv.2_Missense_Mutation_p.S97L	p.S35L	NM_001002759	NP_001002759	Q86XK3	SFR1_HUMAN		Epithelial(162;1.31e-09)|all cancers(201;3.84e-08)|BRCA - Breast invasive adenocarcinoma(275;0.014)	2	117	+		Colorectal(252;0.102)|Breast(234;0.122)	35					A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Missense_Mutation	SNP	ENST00000369727.3	37	c.104C>T	CCDS31279.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141134	0.37825	.	.	ENSG00000156384	ENST00000369729;ENST00000369727;ENST00000336358	T;T;T	0.50001	0.83;0.82;0.76	4.42	2.37	0.29283	.	0.515517	0.19606	N	0.110275	T	0.25269	0.0614	N	0.22421	0.69	0.09310	N	1	B;P	0.35226	0.0;0.491	B;B	0.31495	0.001;0.131	T	0.06588	-1.0818	10	0.21540	T	0.41	-3.0969	4.7904	0.13245	0.2114:0.6782:0.0:0.1103	.	97;35	Q86XK3-2;Q86XK3	.;SFR1_HUMAN	L	22;35;97	ENSP00000358744:S22L;ENSP00000358742:S35L;ENSP00000338089:S97L	ENSP00000338089:S97L	S	+	2	0	SFR1	105872803	0.000000	0.05858	0.005000	0.12908	0.019000	0.09904	0.821000	0.27338	1.172000	0.42781	0.455000	0.32223	TCA		0.398	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1	NM_145247		13	105	0	0	0	0	13	105				
SORCS1	114815	broad.mit.edu	37	10	108389086	108389086	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:108389086C>T	ENST00000263054.6	-	19	2543	c.2536G>A	c.(2536-2538)Gtc>Atc	p.V846I	SORCS1_ENST00000369698.1_Missense_Mutation_p.V381I|SORCS1_ENST00000344440.6_Missense_Mutation_p.V846I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	846	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGAGATTGACGTAAGACACC	0.488																																						uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2536-2538)GTC>ATC		SORCS receptor 1 isoform a							173.0	121.0	139.0					10																	108389086		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108389086C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2536G>A	10.37:g.108389086C>T	ENSP00000263054:p.Val846Ile					SORCS1_uc001kyl.2_Missense_Mutation_p.V846I|SORCS1_uc009xxs.2_Missense_Mutation_p.V846I|SORCS1_uc001kyn.1_Missense_Mutation_p.V846I|SORCS1_uc001kyo.2_Missense_Mutation_p.V846I	p.V846I	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	19	2544	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	846			Lumenal (Potential).|PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2536G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572541	0.65765	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.62364	0.03;0.03;0.03	5.82	5.82	0.92795	PKD/Chitinase domain (1);PKD domain (4);	0.149497	0.44483	D	0.000448	T	0.58119	0.2100	L	0.42245	1.32	0.31975	N	0.606692	P;P;P;P;P	0.42483	0.781;0.74;0.74;0.781;0.74	B;B;B;B;B	0.42959	0.403;0.281;0.281;0.403;0.281	T	0.65302	-0.6201	9	.	.	.	-23.5553	14.8861	0.70570	0.1434:0.8566:0.0:0.0	.	846;846;846;846;846	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	I	381;846;846	ENSP00000358712:V381I;ENSP00000263054:V846I;ENSP00000345964:V846I	.	V	-	1	0	SORCS1	108379076	0.972000	0.33761	0.977000	0.42913	0.805000	0.45488	2.354000	0.44098	2.760000	0.94817	0.655000	0.94253	GTC		0.488	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		8	41	0	0	0	0	8	41				
FAM160B1	57700	broad.mit.edu	37	10	116593011	116593011	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:116593011C>T	ENST00000369248.4	+	3	479	c.144C>T	c.(142-144)acC>acT	p.T48T	FAM160B1_ENST00000369246.1_Silent_p.T48T|FAM160B1_ENST00000369250.3_Silent_p.T48T	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	48										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CCCCAGTGACCGATACAAATA	0.338																																						uc001lcb.2		NA																	0				lung(1)	1						c.(142-144)ACC>ACT		hypothetical protein LOC57700 isoform a							61.0	60.0	60.0					10																	116593011		2203	4300	6503	SO:0001819	synonymous_variant	57700							g.chr10:116593011C>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.144C>T	10.37:g.116593011C>T						FAM160B1_uc001lcc.2_Silent_p.T48T	p.T48T	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN			3	479	+			48					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Silent	SNP	ENST00000369248.4	37	c.144C>T	CCDS31290.1																																																																																				0.338	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		5	45	0	0	0	0	5	45				
MKI67	4288	broad.mit.edu	37	10	129913712	129913712	+	Silent	SNP	T	T	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:129913712T>C	ENST00000368654.3	-	7	1335	c.960A>G	c.(958-960)ggA>ggG	p.G320G	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	320					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCACGTCTCTTCCCTTCCCCT	0.547																																						uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(958-960)GGA>GGG		antigen identified by monoclonal antibody Ki-67							75.0	80.0	78.0					10																	129913712		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913712T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.960A>G	10.37:g.129913712T>C						MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	p.G320G	NM_002417	NP_002408	P46013	KI67_HUMAN			7	1155	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	320					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.960A>G	CCDS7659.1																																																																																				0.547	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		18	79	0	0	0	0	18	79				
OR52D1	390066	broad.mit.edu	37	11	5509984	5509984	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:5509984C>T	ENST00000322641.5	+	1	70	c.48C>T	c.(46-48)ttC>ttT	p.F16F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	16					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)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACACCTTCTTCTTAACAGGGA	0.488																																						uc010qzg.1		NA																	0				central_nervous_system(1)	1						c.(46-48)TTC>TTT		olfactory receptor, family 52, subfamily D,							128.0	122.0	124.0					11																	5509984		2201	4297	6498	SO:0001819	synonymous_variant	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5509984C>T	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.48C>T	11.37:g.5509984C>T						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.F16F	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	48	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	16			Extracellular (Potential).		B9EGY9|Q6IFI6	Silent	SNP	ENST00000322641.5	37	c.48C>T	CCDS31384.1																																																																																				0.488	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		18	67	0	0	0	0	18	67				
HPX	3263	broad.mit.edu	37	11	6452483	6452483	+	Silent	SNP	C	C	T	rs143855789	byFrequency	TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:6452483C>T	ENST00000265983.3	-	10	1447	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	449					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TCTGGGGTTGCGGAAGGGCCT	0.542													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19166	0.0		0.0	False		,,,				2504	0.0					uc001mdg.2		NA																	0					0						c.(1345-1347)CCG>CCA		hemopexin precursor		C		1,4401	2.1+/-5.4	0,1,2200	90.0	82.0	85.0		1347	-7.0	0.6	11	dbSNP_134	85	0,8592		0,0,4296	no	coding-synonymous	HPX	NM_000613.2		0,1,6496	TT,TC,CC		0.0,0.0227,0.0077		449/463	6452483	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452483C>T	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1347G>A	11.37:g.6452483C>T						HPX_uc001mdf.2_Silent_p.P195P|HPX_uc009yfc.2_RNA	p.P449P	NM_000613	NP_000604	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	10	1408	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	449					B2R957	Silent	SNP	ENST00000265983.3	37	c.1347G>A	CCDS7763.1																																																																																				0.542	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		6	69	0	0	0	0	6	69				
PRMT3	10196	broad.mit.edu	37	11	20409618	20409618	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:20409618G>A	ENST00000331079.6	+	2	299	c.82G>A	c.(82-84)Ggg>Agg	p.G28R	PRMT3_ENST00000437750.2_Intron	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	28					histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GTCGGACAGCGGGGACGAGGC	0.647																																						uc001mqb.2		NA																	0					0						c.(82-84)GGG>AGG		protein arginine methyltransferase 3 isoform 1							70.0	64.0	66.0					11																	20409618		2203	4300	6503	SO:0001583	missense	10196						zinc ion binding	g.chr11:20409618G>A	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.82G>A	11.37:g.20409618G>A	ENSP00000331879:p.Gly28Arg					PRMT3_uc001mqc.2_Intron|PRMT3_uc010rdn.1_Intron	p.G28R	NM_005788	NP_005779	O60678	ANM3_HUMAN			2	299	+			28					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.82G>A	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320891	0.81469	.	.	ENSG00000185238	ENST00000331079;ENST00000541255	T	0.27402	1.67	5.93	5.02	0.67125	.	.	.	.	.	T	0.37433	0.1003	L	0.52573	1.65	0.80722	D	1	P	0.51240	0.943	P	0.46389	0.515	T	0.26815	-1.0092	9	0.62326	D	0.03	.	16.8954	0.86099	0.0:0.1283:0.8717:0.0	.	28	O60678	ANM3_HUMAN	R	28	ENSP00000331879:G28R	ENSP00000331879:G28R	G	+	1	0	PRMT3	20366194	1.000000	0.71417	0.759000	0.31340	0.870000	0.49936	3.592000	0.53993	1.498000	0.48600	0.655000	0.94253	GGG		0.647	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		5	39	0	0	0	0	5	39				
MADD	8567	broad.mit.edu	37	11	47298327	47298327	+	Silent	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:47298327G>C	ENST00000311027.5	+	5	1173	c.1008G>C	c.(1006-1008)gtG>gtC	p.V336V	MADD_ENST00000489415.1_3'UTR|MADD_ENST00000407859.3_Silent_p.V336V|MADD_ENST00000402192.2_Silent_p.V336V|MADD_ENST00000349238.3_Silent_p.V336V|MADD_ENST00000395336.3_Silent_p.V336V|MADD_ENST00000395344.3_Silent_p.V336V|MADD_ENST00000402799.1_Silent_p.V336V|MADD_ENST00000406482.1_Silent_p.V336V|MADD_ENST00000342922.4_Silent_p.V336V	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCATGTCTGTGATGGCATTCG	0.483																																						uc001ner.1		NA																	0				ovary(5)|skin(4)|central_nervous_system(2)	11						c.(1006-1008)GTG>GTC		MAP-kinase activating death domain-containing							288.0	224.0	245.0					11																	47298327		2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47298327G>C	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1008G>C	11.37:g.47298327G>C						MADD_uc001neq.2_Silent_p.V336V|MADD_uc001nev.1_Silent_p.V336V|MADD_uc001nes.1_Silent_p.V336V|MADD_uc001net.1_Silent_p.V336V|MADD_uc009yln.1_Silent_p.V336V|MADD_uc001neu.1_Silent_p.V336V|MADD_uc001nex.2_Silent_p.V336V|MADD_uc001nez.2_Silent_p.V336V|MADD_uc001new.2_Silent_p.V336V	p.V336V	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	5	1199	+			336			Helical; (Potential).|DENN.			Silent	SNP	ENST00000311027.5	37	c.1008G>C	CCDS7930.1																																																																																				0.483	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			12	87	0	0	0	0	12	87				
OR5AS1	219447	broad.mit.edu	37	11	55798090	55798090	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:55798090T>G	ENST00000313555.1	+	1	196	c.196T>G	c.(196-198)Tta>Gta	p.L66V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCTTAGCAACTTATCTTTCTT	0.348																																						uc010riw.1		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(196-198)TTA>GTA		olfactory receptor, family 5, subfamily AS,							57.0	58.0	57.0					11																	55798090		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798090T>G	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.196T>G	11.37:g.55798090T>G	ENSP00000324111:p.Leu66Val						p.L66V	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	196	+	Esophageal squamous(21;0.00693)		66			Helical; Name=2; (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.196T>G	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.564005	0.45694	.	.	ENSG00000181785	ENST00000313555	T	0.00587	6.38	5.65	1.67	0.24075	GPCR, rhodopsin-like superfamily (1);	0.000000	0.25106	U	0.033095	T	0.03564	0.0102	H	0.95260	3.645	0.26582	N	0.973356	D	0.76494	0.999	D	0.78314	0.991	T	0.09378	-1.0677	10	0.87932	D	0	.	7.5607	0.27849	0.0:0.4291:0.0:0.5709	.	66	Q8N127	O5AS1_HUMAN	V	66	ENSP00000324111:L66V	ENSP00000324111:L66V	L	+	1	2	OR5AS1	55554666	0.000000	0.05858	0.997000	0.53966	0.512000	0.34134	-0.557000	0.05985	0.434000	0.26340	-0.269000	0.10298	TTA		0.348	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		6	43	0	0	0	0	6	43				
SLC43A3	29015	broad.mit.edu	37	11	57175311	57175311	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:57175311T>G	ENST00000395123.2	-	14	1734	c.1430A>C	c.(1429-1431)tAt>tCt	p.Y477S	RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y477S|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y477S|SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y477S|SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y490S	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	477					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GCATTCCCGATATACCAGAAA	0.473																																						uc001nkg.2		NA																	0				central_nervous_system(1)	1						c.(1429-1431)TAT>TCT		solute carrier family 43, member 3							125.0	104.0	111.0					11																	57175311		2201	4296	6497	SO:0001583	missense	29015				transmembrane transport	integral to membrane		g.chr11:57175311T>G	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1430A>C	11.37:g.57175311T>G	ENSP00000378555:p.Tyr477Ser					PRG2_uc001nke.2_Intron|SLC43A3_uc001nkh.2_Missense_Mutation_p.Y477S|SLC43A3_uc010rjr.1_Missense_Mutation_p.Y490S|SLC43A3_uc009yme.2_Missense_Mutation_p.Y477S|SLC43A3_uc001nki.2_Missense_Mutation_p.Y477S	p.Y477S	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN			14	1840	-			477					B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	c.1430A>C	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	T	9.310	1.055391	0.19907	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	4.49	3.25	0.37280	Major facilitator superfamily domain, general substrate transporter (1);	0.934126	0.09164	N	0.839736	T	0.72366	0.3451	L	0.50333	1.59	0.38589	D	0.950366	B;B	0.32573	0.376;0.172	B;B	0.29598	0.071;0.104	T	0.69416	-0.5151	10	0.32370	T	0.25	-14.5028	6.7041	0.23240	0.2103:0.0:0.0:0.7897	.	490;477	E7EQD2;Q8NBI5	.;S43A3_HUMAN	S	477;477;477;477;490	ENSP00000378555:Y477S;ENSP00000378556:Y477S;ENSP00000337561:Y477S;ENSP00000436254:Y477S;ENSP00000434515:Y490S	ENSP00000337561:Y477S	Y	-	2	0	SLC43A3	56931887	0.938000	0.31826	1.000000	0.80357	0.277000	0.26821	0.538000	0.23160	1.971000	0.57363	0.459000	0.35465	TAT		0.473	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		3	69	0	0	0	0	3	69				
MS4A2	2206	broad.mit.edu	37	11	59863040	59863040	+	Missense_Mutation	SNP	G	G	A	rs373183910		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:59863040G>A	ENST00000278888.3	+	7	748	c.646G>A	c.(646-648)Gat>Aat	p.D216N		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	216					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GGTTCCAGAGGATCGTGTTTA	0.388																																						uc001nop.2		NA																	0				ovary(1)	1						c.(646-648)GAT>AAT		membrane-spanning 4-domains, subfamily A, member	Omalizumab(DB00043)						130.0	125.0	127.0					11																	59863040		2201	4295	6496	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59863040G>A	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.646G>A	11.37:g.59863040G>A	ENSP00000278888:p.Asp216Asn						p.D216N	NM_000139	NP_000130	Q01362	FCERB_HUMAN			7	748	+		all_epithelial(135;0.245)	216			Cytoplasmic (Potential).		Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.646G>A	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596003	0.86953	.	.	ENSG00000149534	ENST00000278888	T	0.24538	1.85	4.79	4.79	0.61399	.	0.295679	0.25291	N	0.031736	T	0.34337	0.0894	L	0.34521	1.04	0.34381	D	0.693132	D	0.76494	0.999	D	0.63381	0.914	T	0.13953	-1.0490	10	0.23891	T	0.37	-14.5184	13.6483	0.62294	0.0:0.0:1.0:0.0	.	216	Q01362	FCERB_HUMAN	N	216	ENSP00000278888:D216N	ENSP00000278888:D216N	D	+	1	0	MS4A2	59619616	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.817000	0.55668	2.941000	0.99782	0.655000	0.94253	GAT		0.388	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			6	31	0	0	0	0	6	31				
EXPH5	23086	broad.mit.edu	37	11	108380962	108380962	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:108380962G>A	ENST00000265843.4	-	6	5382	c.5272C>T	c.(5272-5274)Ctg>Ttg	p.L1758L	EXPH5_ENST00000525344.1_Silent_p.L1751L|EXPH5_ENST00000443411.1_Silent_p.L1570L|EXPH5_ENST00000428840.1_Silent_p.L1682L	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1758					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GCAGGCTCCAGTGGAAAAGGA	0.512																																						uc001pkk.2		NA																	0				skin(3)|ovary(2)	5						c.(5272-5274)CTG>TTG		exophilin 5 isoform a							67.0	72.0	71.0					11																	108380962		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108380962G>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5272C>T	11.37:g.108380962G>A						EXPH5_uc010rvy.1_Silent_p.L1570L|EXPH5_uc010rvz.1_Silent_p.L1602L|EXPH5_uc010rwa.1_Silent_p.L1682L	p.L1758L	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5383	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1758					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.5272C>T	CCDS8341.1																																																																																				0.512	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		15	77	0	0	0	0	15	77				
PRH2	5555	broad.mit.edu	37	12	11082884	11082884	+	Silent	SNP	C	C	T	rs1130408		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:11082884C>T	ENST00000396400.3	+	2	119	c.81C>T	c.(79-81)gaC>gaT	p.D27D	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Silent_p.D27D	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	27	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						GCCAAGAAGACGTTCCCTTGG	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20326	0.0		0.0	False		,,,				2504	0.0					uc009zhr.2		NA																	0					0						c.(79-81)GAC>GAT		proline-rich protein HaeIII subfamily 2							172.0	160.0	164.0					12																	11082884		2203	4300	6503	SO:0001819	synonymous_variant	5555					extracellular space	protein binding	g.chr12:11082884C>T		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"""parotid proline-rich protein"", ""acidic salivary proline-rich protein, HaeIII type, 2"""	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.81C>T	12.37:g.11082884C>T						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH2_uc001qzh.2_Silent_p.D27D|PRH2_uc001qzi.3_Silent_p.D27D	p.D27D	NM_001110213	NP_001103683	P02810	PRPC_HUMAN			2	119	+			27			Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.		A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Silent	SNP	ENST00000396400.3	37	c.81C>T	CCDS8636.1																																																																																				0.388	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213		13	76	0	0	0	0	13	76				
PPFIBP1	8496	broad.mit.edu	37	12	27841969	27841969	+	Missense_Mutation	SNP	G	G	A	rs539499516		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:27841969G>A	ENST00000318304.8	+	26	2819	c.2536G>A	c.(2536-2538)Gta>Ata	p.V846I	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.V693I|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.V815I|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.V840I	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	846	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCGTTTTAACGTAGAAACAAT	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		19313	0.001		0.0	False		,,,				2504	0.0					uc001ric.1		NA																PPFIBP1/ALK(3)	0				soft_tissue(3)|kidney(1)|skin(1)	5						c.(2536-2538)GTA>ATA		PTPRF interacting protein binding protein 1							92.0	83.0	86.0					12																	27841969		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27841969G>A	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2536G>A	12.37:g.27841969G>A	ENSP00000314724:p.Val846Ile					PPFIBP1_uc010sjr.1_Missense_Mutation_p.V677I|PPFIBP1_uc001rib.1_Missense_Mutation_p.V840I|PPFIBP1_uc001ria.2_Missense_Mutation_p.V815I|PPFIBP1_uc001rid.1_Missense_Mutation_p.V693I|PPFIBP1_uc001rif.1_Missense_Mutation_p.V353I	p.V846I	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			26	2913	+	Lung SC(9;0.0873)		846			SAM 3.		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2536G>A	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478776	0.84747	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.18	5.18	0.71444	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.000000	0.31156	U	0.008141	D	0.88262	0.6389	L	0.29908	0.895	0.80722	D	1	D;D;D;P;D	0.89917	0.982;0.999;1.0;0.924;1.0	P;D;D;P;D	0.85130	0.631;0.985;0.997;0.528;0.995	D	0.87646	0.2525	10	0.37606	T	0.19	-19.1112	18.3012	0.90164	0.0:0.0:1.0:0.0	.	693;677;846;840;815	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	I	677;693;846;815;840	ENSP00000444304:V677I;ENSP00000445425:V693I;ENSP00000314724:V846I;ENSP00000443442:V815I;ENSP00000228425:V840I	ENSP00000228425:V840I	V	+	1	0	PPFIBP1	27733236	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	9.735000	0.98825	2.418000	0.82041	0.591000	0.81541	GTA		0.378	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		15	72	0	0	0	0	15	72				
KMT2D	8085	broad.mit.edu	37	12	49447796	49447796	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:49447796A>G	ENST00000301067.7	-	5	637	c.638T>C	c.(637-639)cTa>cCa	p.L213P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	213					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTCTGGGCATAGCAGCTGCAG	0.542																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(637-639)CTA>CCA		myeloid/lymphoid or mixed-lineage leukemia 2							69.0	69.0	69.0					12																	49447796		1997	4168	6165	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49447796A>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.638T>C	12.37:g.49447796A>G	ENSP00000301067:p.Leu213Pro	HNSCC(34;0.089)					p.L213P	NM_003482	NP_003473	O14686	MLL2_HUMAN			5	638	-			213					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.638T>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446454	0.25987	.	.	ENSG00000167548	ENST00000301067	T	0.72505	-0.66	4.92	4.92	0.64577	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.27056	U	0.021147	D	0.86121	0.5857	M	0.90705	3.14	0.52501	D	0.999952	D	0.89917	1.0	D	0.81914	0.995	D	0.88990	0.3414	10	0.87932	D	0	.	13.5679	0.61830	1.0:0.0:0.0:0.0	.	213	O14686	MLL2_HUMAN	P	213	ENSP00000301067:L213P	ENSP00000301067:L213P	L	-	2	0	MLL2	47734063	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.005000	0.93587	1.842000	0.53543	0.379000	0.24179	CTA		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			18	69	0	0	0	0	18	69				
CALCOCO1	57658	broad.mit.edu	37	12	54110137	54110137	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:54110137C>T	ENST00000550804.1	-	8	972	c.912G>A	c.(910-912)aaG>aaA	p.K304K	CALCOCO1_ENST00000262059.4_Silent_p.K304K|CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000548263.1_Silent_p.K304K			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	304					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CTTGCCAGCTCTTCGCCTCCT	0.562																																						uc001sef.2		NA																	0				ovary(1)	1						c.(910-912)AAG>AAA		coiled-coil transcriptional coactivator isoform							99.0	82.0	88.0					12																	54110137		2203	4300	6503	SO:0001819	synonymous_variant	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54110137C>T	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.912G>A	12.37:g.54110137C>T						CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Intron|CALCOCO1_uc010son.1_Silent_p.K181K|CALCOCO1_uc001seh.2_Silent_p.K304K|CALCOCO1_uc009znd.2_Silent_p.K304K|CALCOCO1_uc001seg.2_Intron|CALCOCO1_uc010soo.1_Silent_p.K297K	p.K304K	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			8	1056	-			304			Potential.		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Silent	SNP	ENST00000550804.1	37	c.912G>A	CCDS8864.1																																																																																				0.562	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		26	68	0	0	0	0	26	68				
DTX3	196403	broad.mit.edu	37	12	58000719	58000719	+	Missense_Mutation	SNP	G	G	A	rs371981174		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:58000719G>A	ENST00000548198.1	+	3	1577	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	DTX3_ENST00000548804.1_Missense_Mutation_p.V25M|DTX3_ENST00000551632.1_Missense_Mutation_p.V28M|DTX3_ENST00000337737.3_Missense_Mutation_p.V25M			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	25					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GTCCAAGCCCGTGTGGGACTT	0.597																																						uc001sow.1		NA																	0				breast(1)|central_nervous_system(1)	2						c.(73-75)GTG>ATG		deltex homolog 3							132.0	147.0	142.0					12																	58000719		1992	4161	6153	SO:0001583	missense	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58000719G>A	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.73G>A	12.37:g.58000719G>A	ENSP00000447873:p.Val25Met					DTX3_uc001sov.1_Missense_Mutation_p.V18M|DTX3_uc001sox.1_Missense_Mutation_p.V18M|DTX3_uc001soy.1_Missense_Mutation_p.V18M	p.V25M	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN			5	410	+	Melanoma(17;0.122)		25					Q53ZZ2|Q8NAU6|Q8NDS8	Missense_Mutation	SNP	ENST00000548198.1	37	c.73G>A	CCDS41800.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709649	0.48517	.	.	ENSG00000178498	ENST00000548804;ENST00000551835;ENST00000549583;ENST00000337737;ENST00000548198;ENST00000551632;ENST00000548478	T;T;T;T;T;T	0.59083	0.99;0.29;0.99;0.99;0.98;0.3	3.87	2.88	0.33553	.	0.356469	0.21047	N	0.081065	T	0.41488	0.1161	N	0.14661	0.345	0.42954	D	0.99438	P	0.51933	0.949	P	0.44732	0.459	T	0.45963	-0.9225	10	0.54805	T	0.06	-1.926	10.7737	0.46338	0.0:0.1948:0.8052:0.0	.	25	Q8N9I9	DTX3_HUMAN	M	25;25;28;25;25;28;18	ENSP00000449294:V25M;ENSP00000449688:V28M;ENSP00000338050:V25M;ENSP00000447873:V25M;ENSP00000448696:V28M;ENSP00000448224:V18M	ENSP00000338050:V25M	V	+	1	0	DTX3	56286986	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.266000	0.72540	1.877000	0.54381	0.462000	0.41574	GTG		0.597	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		99	227	0	0	0	0	99	227				
PPFIA2	8499	broad.mit.edu	37	12	81675072	81675072	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:81675072A>G	ENST00000549396.1	-	27	3336	c.3176T>C	c.(3175-3177)cTc>cCc	p.L1059P	PPFIA2_ENST00000541570.2_Missense_Mutation_p.L595P|PPFIA2_ENST00000550584.2_Missense_Mutation_p.L1059P|PPFIA2_ENST00000407050.4_Missense_Mutation_p.L958P|PPFIA2_ENST00000541017.1_Missense_Mutation_p.L245P|PPFIA2_ENST00000443686.3_Missense_Mutation_p.L954P|PPFIA2_ENST00000552948.1_Missense_Mutation_p.L1038P|PPFIA2_ENST00000549325.1_Missense_Mutation_p.L1044P|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550359.2_Missense_Mutation_p.L906P|PPFIA2_ENST00000333447.7_Missense_Mutation_p.L1044P|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.L1053P	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1059	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATGGACACGGAGATCTTTTTT	0.343																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(3175-3177)CTC>CCC		PTPRF interacting protein alpha 2							83.0	79.0	80.0					12																	81675072		1811	4072	5883	SO:0001583	missense	8499							g.chr12:81675072A>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3176T>C	12.37:g.81675072A>G	ENSP00000450337:p.Leu1059Pro					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.L1059P	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			27	3337	-			958					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.3176T>C	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.5|22.5	4.293012|4.293012	0.80914|0.80914	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	T;T;T;T;T;T;T;T;T|.	0.70399|.	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85141|0.85141	0.5629|0.5629	M|M	0.92169|0.92169	3.28|3.28	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.88903|0.88903	0.3354|0.3354	10|5	0.87932|.	D|.	0|.	-9.0281|-9.0281	15.7394|15.7394	0.77876|0.77876	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1059|.	O75334|.	LIPA2_HUMAN|.	P|P	1059;1044;595;245;958;1070;1044;1053;954;1038|162	ENSP00000450337:L1059P;ENSP00000450298:L1044P;ENSP00000438337:L595P;ENSP00000445532:L245P;ENSP00000385093:L958P;ENSP00000327416:L1044P;ENSP00000449338:L1053P;ENSP00000388373:L954P;ENSP00000447868:L1038P|.	ENSP00000327416:L1044P|.	L|S	-|-	2|1	0|0	PPFIA2|PPFIA2	80199203|80199203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.221000|9.221000	0.95188|0.95188	2.183000|2.183000	0.69458|0.69458	0.397000|0.397000	0.26171|0.26171	CTC|TCC		0.343	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			4	26	0	0	0	0	4	26				
KERA	11081	broad.mit.edu	37	12	91449289	91449289	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:91449289C>T	ENST00000266719.3	-	2	1017	c.770G>A	c.(769-771)aGa>aAa	p.R257K		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	257					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ATCAAATCCTCTTGATGGGAG	0.398																																						uc001tbl.2		NA																	0				skin(1)	1						c.(769-771)AGA>AAA		keratocan precursor							117.0	109.0	112.0					12																	91449289		2203	4299	6502	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449289C>T	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.770G>A	12.37:g.91449289C>T	ENSP00000266719:p.Arg257Lys						p.R257K	NM_007035	NP_008966	O60938	KERA_HUMAN			2	1389	-			257			LRR 8.			Missense_Mutation	SNP	ENST00000266719.3	37	c.770G>A	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	C	9.536	1.112003	0.20795	.	.	ENSG00000139330	ENST00000266719	T	0.54675	0.56	5.91	1.04	0.20106	.	0.382425	0.35040	N	0.003497	T	0.27205	0.0667	N	0.16790	0.44	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.21586	-1.0241	10	0.06494	T	0.89	-1.1606	8.0283	0.30451	0.0:0.4429:0.0:0.5571	.	257	O60938	KERA_HUMAN	K	257	ENSP00000266719:R257K	ENSP00000266719:R257K	R	-	2	0	KERA	89973420	0.958000	0.32768	0.041000	0.18516	0.292000	0.27327	1.943000	0.40253	0.432000	0.26286	-0.136000	0.14681	AGA		0.398	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		19	63	0	0	0	0	19	63				
NAA25	80018	broad.mit.edu	37	12	112506764	112506764	+	Nonsense_Mutation	SNP	T	T	A	rs149344901		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:112506764T>A	ENST00000261745.4	-	11	1317	c.1069A>T	c.(1069-1071)Aaa>Taa	p.K357*	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	357						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCAAACTTTTTAAAATACTGG	0.353																																						uc001ttm.2		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1069-1071)AAA>TAA		mitochondrial distribution and morphology 20							88.0	90.0	89.0					12																	112506764		2203	4300	6503	SO:0001587	stop_gained	80018					cytoplasm	protein binding	g.chr12:112506764T>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1069A>T	12.37:g.112506764T>A	ENSP00000261745:p.Lys357*					NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.K329*|NAA25_uc009zwa.1_Nonsense_Mutation_p.K357*	p.K357*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			11	1089	-			357					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Nonsense_Mutation	SNP	ENST00000261745.4	37	c.1069A>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	T	39	7.576231	0.98368	.	.	ENSG00000111300	ENST00000261745	.	.	.	5.51	5.51	0.81932	.	0.171602	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4824	15.6278	0.76874	0.0:0.0:0.0:1.0	.	.	.	.	X	357	.	ENSP00000261745:K357X	K	-	1	0	NAA25	110991147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.208000	0.42797	2.096000	0.63516	0.533000	0.62120	AAA		0.353	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		13	51	0	0	0	0	13	51				
MED13L	23389	broad.mit.edu	37	12	116434432	116434432	+	Missense_Mutation	SNP	T	T	C	rs35760315		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:116434432T>C	ENST00000281928.3	-	16	3051	c.2845A>G	c.(2845-2847)Atg>Gtg	p.M949V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	949						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGAGCAAACATGGAGGATCCC	0.438																																						uc001tvw.2		NA																	0				skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(2845-2847)ATG>GTG		mediator complex subunit 13-like							80.0	71.0	74.0					12																	116434432		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116434432T>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.2845A>G	12.37:g.116434432T>C	ENSP00000281928:p.Met949Val						p.M949V	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	16	2900	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		949					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.2845A>G	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.490744	0.44249	.	.	ENSG00000123066	ENST00000281928	T	0.74737	-0.87	5.37	4.16	0.48862	.	0.076037	0.85682	D	0.000000	T	0.67458	0.2895	M	0.68593	2.085	0.38636	D	0.951491	B	0.02656	0.0	B	0.01281	0.0	T	0.66296	-0.5959	10	0.36615	T	0.2	.	6.3829	0.21544	0.0:0.1088:0.272:0.6192	.	949	Q71F56	MD13L_HUMAN	V	949	ENSP00000281928:M949V	ENSP00000281928:M949V	M	-	1	0	MED13L	114918815	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.290000	0.33319	2.164000	0.68074	0.482000	0.46254	ATG		0.438	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			10	41	0	0	0	0	10	41				
KSR2	283455	broad.mit.edu	37	12	118406030	118406030	+	Nonsense_Mutation	SNP	C	C	A	rs548162432		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:118406030C>A	ENST00000339824.5	-	1	758	c.31G>T	c.(31-33)Gag>Tag	p.E11*	KSR2_ENST00000425217.1_5'Flank			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	11					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTGCTGCTCCTCGCTTTTC	0.522																																						uc001two.2		NA																	0				lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.e1-1		kinase suppressor of ras 2																																				SO:0001587	stop_gained	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118406030C>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.31G>T	12.37:g.118406030C>A	ENSP00000339952:p.Glu11*							NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			1	1	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)							A0PJT2|Q3B828|Q8N775	Splice_Site	SNP	ENST00000339824.5	37	c.-54_splice		.	.	.	.	.	.	.	.	.	.	C	46	12.664543	0.99686	.	.	ENSG00000171435	ENST00000339824	.	.	.	3.97	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	13.5866	0.61935	0.0:1.0:0.0:0.0	.	.	.	.	X	11	.	ENSP00000339952:E11X	E	-	1	0	KSR2	116890413	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.634000	0.74290	2.040000	0.60383	0.491000	0.48974	GAG		0.522	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		7	110	1	0	0.00198382	0.00397789	7	110				
NCOR2	9612	broad.mit.edu	37	12	124862849	124862849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:124862849C>A	ENST00000405201.1	-	18	2101	c.2101G>T	c.(2101-2103)Gag>Tag	p.E701*	NCOR2_ENST00000397355.1_Nonsense_Mutation_p.E701*|NCOR2_ENST00000429285.2_Nonsense_Mutation_p.E700*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.E700*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.E271*|NCOR2_ENST00000356219.3_Nonsense_Mutation_p.E701*			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	701					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|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 body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCTCATCCTCCACCACGGGC	0.667																																						uc010tba.1		NA																	0				skin(3)|ovary(1)	4						c.(2101-2103)GAG>TAG		nuclear receptor co-repressor 2 isoform 2							69.0	82.0	78.0					12																	124862849		2100	4209	6309	SO:0001587	stop_gained	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124862849C>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2101G>T	12.37:g.124862849C>A	ENSP00000384018:p.Glu701*					NCOR2_uc010tay.1_Nonsense_Mutation_p.E701*|NCOR2_uc010taz.1_Nonsense_Mutation_p.E701*|NCOR2_uc010tbb.1_Nonsense_Mutation_p.E701*|NCOR2_uc010tbc.1_Nonsense_Mutation_p.E700*|NCOR2_uc001ugj.1_Nonsense_Mutation_p.E701*	p.E701*	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	18	2218	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		701					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Nonsense_Mutation	SNP	ENST00000405201.1	37	c.2101G>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	40	8.309824	0.98754	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234;ENST00000448614	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.2496	17.3179	0.87228	0.0:1.0:0.0:0.0	.	.	.	.	X	701;700;701;701;701;271;700;701;91	.	ENSP00000348551:E701X	E	-	1	0	NCOR2	123428802	1.000000	0.71417	0.961000	0.40146	0.514000	0.34195	6.791000	0.75120	2.154000	0.67381	0.462000	0.41574	GAG		0.667	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		14	53	1	0	4.38e-07	9.24e-07	14	53				
ATP12A	479	broad.mit.edu	37	13	25275010	25275010	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr13:25275010C>T	ENST00000381946.3	+	13	1998	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	ATP12A_ENST00000218548.6_Missense_Mutation_p.R617W|RNY1P7_ENST00000384743.1_RNA			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	611					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CGATCCCCCTCGGTCCACCGT	0.483																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(1831-1833)CGG>TGG		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						144.0	128.0	134.0					13																	25275010		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25275010C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1831C>T	13.37:g.25275010C>T	ENSP00000371372:p.Arg611Trp					ATP12A_uc010aaa.2_Missense_Mutation_p.R617W	p.R611W	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	13	2018	+		Lung SC(185;0.0225)|Breast(139;0.077)	611			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1831C>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898923	0.52227	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.96491	-4.03;-4.03	6.17	4.38	0.52667	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000003	D	0.98585	0.9527	H	0.99404	4.55	0.80722	D	1	D;D	0.62365	0.991;0.979	P;P	0.53649	0.731;0.584	D	0.99091	1.0840	10	0.87932	D	0	.	13.8251	0.63346	0.2773:0.7227:0.0:0.0	.	617;611	P54707-2;P54707	.;AT12A_HUMAN	W	617;611	ENSP00000218548:R617W;ENSP00000371372:R611W	ENSP00000218548:R617W	R	+	1	2	ATP12A	24173010	1.000000	0.71417	0.997000	0.53966	0.007000	0.05969	4.754000	0.62191	1.602000	0.50124	0.655000	0.94253	CGG		0.483	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		10	48	0	0	0	0	10	48				
RB1	5925	broad.mit.edu	37	13	49027134	49027134	+	Silent	SNP	A	A	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr13:49027134A>T	ENST00000267163.4	+	18	1839	c.1701A>T	c.(1699-1701)tcA>tcT	p.S567S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	567	Domain A.|Pocket; binds T and E1A.		S -> L (in RB). {ECO:0000269|PubMed:10671068, ECO:0000269|PubMed:2594029}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TATAGGATTCACCTTTATTTG	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		25	Whole gene deletion(15)|Unknown(10)	p.?(6)|p.S567*(1)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(1699-1701)TCA>TCT		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						101.0	97.0	98.0					13																	49027134		2203	4300	6503	SO:0001819	synonymous_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49027134A>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1701A>T	13.37:g.49027134A>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.S567S	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	18	1867	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	567		S -> L (in RB).	Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	c.1701A>T	CCDS31973.1																																																																																				0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			3	32	0	0	0	0	3	32				
CLDN10	9071	broad.mit.edu	37	13	96212417	96212417	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr13:96212417C>G	ENST00000299339.2	+	2	281	c.252C>G	c.(250-252)atC>atG	p.I84M	CLDN10_ENST00000376873.3_Missense_Mutation_p.I82M|CLDN10_ENST00000376855.1_Missense_Mutation_p.I2M	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	84					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.I82I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GACTTATGATCGCTGCTGTCA	0.433																																						uc001vmh.2		NA																	1	Substitution - coding silent(1)		skin(1)	ovary(1)	1						c.(250-252)ATC>ATG		claudin 10 isoform b							144.0	126.0	132.0					13																	96212417		2203	4300	6503	SO:0001583	missense	9071				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr13:96212417C>G	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.252C>G	13.37:g.96212417C>G	ENSP00000299339:p.Ile84Met					CLDN10_uc001vmg.2_Missense_Mutation_p.I82M|CLDN10_uc010tii.1_Missense_Mutation_p.I63M	p.I84M	NM_006984	NP_008915	P78369	CLD10_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.18)		2	313	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		84			Helical; (Potential).		Q6IBF9|Q96N78	Missense_Mutation	SNP	ENST00000299339.2	37	c.252C>G	CCDS9476.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176883	0.57692	.	.	ENSG00000134873	ENST00000376873;ENST00000299339;ENST00000376855	D;D;D	0.91124	-2.79;-2.79;-2.79	5.75	-4.55	0.03441	.	0.000000	0.85682	D	0.000000	D	0.92919	0.7747	M	0.82630	2.6	0.49582	D	0.999805	P;P;P	0.50943	0.933;0.933;0.94	P;P;P	0.60117	0.869;0.869;0.868	D	0.91496	0.5215	10	0.87932	D	0	.	11.5408	0.50665	0.0998:0.5582:0.0:0.3419	.	84;84;82	Q6IBF9;P78369;Q96N78	.;CLD10_HUMAN;.	M	82;84;2	ENSP00000366069:I82M;ENSP00000299339:I84M;ENSP00000366051:I2M	ENSP00000299339:I84M	I	+	3	3	CLDN10	95010418	0.007000	0.16637	0.964000	0.40570	0.987000	0.75469	-1.104000	0.03326	-0.741000	0.04797	-0.806000	0.03193	ATC		0.433	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045484.1	NM_006984		5	64	0	0	0	0	5	64				
POTEG	404785	broad.mit.edu	37	14	19566010	19566010	+	Splice_Site	SNP	A	A	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:19566010A>T	ENST00000409832.3	+	6	1107		c.e6-1		RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G											cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTTTATACATAGAATTTGCCA	0.259																																						uc001vuz.1		NA																	0				ovary(1)	1						c.e6-2		POTE ankyrin domain family, member G							38.0	46.0	43.0					14																	19566010		1432	2570	4002	SO:0001630	splice_region_variant	404785							g.chr14:19566010A>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1056-1A>T	14.37:g.19566010A>T						POTEG_uc001vva.1_Splice_Site|POTEG_uc010ahc.1_Splice_Site|uc001vvb.2_Intron	p.V352_splice	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			6	1108	+								A1L153|A6NMI9|Q6S5H6|Q6S8J2	Splice_Site	SNP	ENST00000409832.3	37	c.1056_splice	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	.	2.402	-0.337266	0.05278	.	.	ENSG00000222036	ENST00000409832	.	.	.	2.2	-2.31	0.06765	.	.	.	.	.	.	.	.	.	.	.	0.20196	N	0.999928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0363	0.14436	0.3592:0.0:0.0:0.6408	.	.	.	.	.	-1	.	.	.	+	.	.	POTEG	18636010	0.006000	0.16342	0.001000	0.08648	0.180000	0.23129	0.451000	0.21779	-0.053000	0.13289	0.155000	0.16302	.		0.259	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	Intron	7	78	0	0	0	0	7	78				
FOXG1	2290	broad.mit.edu	37	14	29237757	29237757	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:29237757G>A	ENST00000313071.4	+	1	1471	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	FOXG1_ENST00000382535.3_Silent_p.P424P	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	424					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCCCGCACCCGTCAATGACTT	0.657																																						uc001wqe.2		NA																	0				ovary(2)|lung(2)	4						c.(1270-1272)CCG>CCA		forkhead box G1							54.0	48.0	51.0					14																	29237757		2203	4300	6503	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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	g.chr14:29237757G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1272G>A	14.37:g.29237757G>A							p.P424P	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1471	+			424					A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.1272G>A	CCDS9636.1																																																																																				0.657	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			15	47	0	0	0	0	15	47				
PRKD1	5587	broad.mit.edu	37	14	30046528	30046528	+	Silent	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:30046528G>T	ENST00000331968.5	-	18	2884	c.2655C>A	c.(2653-2655)atC>atA	p.I885I	PRKD1_ENST00000415220.2_Silent_p.I893I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	885					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CACTTGGATTGATCAGGTGTG	0.517																																						uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(2653-2655)ATC>ATA		protein kinase D1							146.0	121.0	129.0					14																	30046528		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30046528G>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2655C>A	14.37:g.30046528G>T							p.I885I	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	18	2836	-	Hepatocellular(127;0.0604)		885					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.2655C>A	CCDS9637.1																																																																																				0.517	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		36	104	1	0	1.36e-19	3.03e-19	36	104				
HEATR5A	25938	broad.mit.edu	37	14	31762629	31762629	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:31762629C>T	ENST00000389961.3	-	35	6004	c.6005G>A	c.(6004-6006)cGc>cAc	p.R2002H	HEATR5A_ENST00000543095.2_Missense_Mutation_p.R2008H|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R1715H|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1927H|RP11-596D21.1_ENST00000551799.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	2002										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGCCTCAAGGCGGGCTTTTAG	0.378																																						uc001wrf.3		NA																	0				ovary(1)	1						c.(5143-5145)CGC>CAC		HEAT repeat containing 5A							117.0	117.0	117.0					14																	31762629		1796	4079	5875	SO:0001583	missense	25938						binding	g.chr14:31762629C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.6005G>A	14.37:g.31762629C>T	ENSP00000374611:p.Arg2002His					HEATR5A_uc010ami.2_Missense_Mutation_p.R1538H	p.R1715H	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	30	5221	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		2002					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.5144G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.362646|5.362646	0.95877|0.95877	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	.|T;T;T;T	.|0.65549	.|-0.16;0.41;-0.16;-0.16	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78444|0.78444	0.4284|0.4284	M|M	0.62266|0.62266	1.93|1.93	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	T|T	0.79347|0.79347	-0.1841|-0.1841	5|10	.|0.72032	.|D	.|0.01	.|.	19.6777|19.6777	0.95943|0.95943	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1927	.|Q86XA9-2	.|.	T|H	1561|2002;1927;1715;2008	.|ENSP00000374611:R2002H;ENSP00000405407:R1927H;ENSP00000408681:R1715H;ENSP00000437968:R2008H	.|ENSP00000374611:R2002H	A|R	-|-	1|2	0|0	HEATR5A|HEATR5A	30832380|30832380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.040000|6.040000	0.70980|0.70980	2.646000|2.646000	0.89796|0.89796	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.378	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		50	145	0	0	0	0	50	145				
RPL10L	140801	broad.mit.edu	37	14	47120482	47120482	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:47120482C>T	ENST00000298283.3	-	1	546	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	153					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CTTGGCCCTGCGCAAGGCTTC	0.517																																						uc001wwg.2		NA																	0				ovary(1)	1						c.(457-459)CGC>CAC		ribosomal protein L10-like protein							85.0	85.0	85.0					14																	47120482		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120482C>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.458G>A	14.37:g.47120482C>T	ENSP00000298283:p.Arg153His						p.R153H	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	547	-			153					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.458G>A	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419639	0.62622	.	.	ENSG00000165496	ENST00000298283	T	0.74947	-0.89	4.57	4.57	0.56435	Ribosomal protein L10e/L16 (2);	0.242055	0.39909	N	0.001228	T	0.82181	0.4981	H	0.95470	3.675	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.82851	-0.0253	10	0.59425	D	0.04	-28.0503	15.6671	0.77238	0.0:1.0:0.0:0.0	.	153	Q96L21	RL10L_HUMAN	H	153	ENSP00000298283:R153H	ENSP00000298283:R153H	R	-	2	0	RPL10L	46190232	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	6.929000	0.75852	2.824000	0.97209	0.655000	0.94253	CGC		0.517	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			12	76	0	0	0	0	12	76				
SOCS4	122809	broad.mit.edu	37	14	55509833	55509833	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:55509833A>G	ENST00000395472.2	+	2	406	c.74A>G	c.(73-75)gAc>gGc	p.D25G	SOCS4_ENST00000339298.2_Missense_Mutation_p.D25G|SOCS4_ENST00000555846.1_Missense_Mutation_p.D25G	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	25					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AGAAGTGCCGACAGAAAAGAC	0.363																																						uc001xbo.2		NA																	0				ovary(1)|kidney(1)	2						c.(73-75)GAC>GGC		suppressor of cytokine signaling 4							137.0	136.0	136.0					14																	55509833		2203	4300	6503	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55509833A>G	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.74A>G	14.37:g.55509833A>G	ENSP00000378855:p.Asp25Gly					SOCS4_uc001xbp.2_Missense_Mutation_p.D25G	p.D25G	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN			3	639	+			25						Missense_Mutation	SNP	ENST00000395472.2	37	c.74A>G	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222135	0.58560	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.33865	1.39;1.39;1.39	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000002	T	0.32255	0.0823	N	0.24115	0.695	0.53005	D	0.999961	B	0.29432	0.244	B	0.35971	0.215	T	0.16364	-1.0405	10	0.59425	D	0.04	-15.9759	16.0663	0.80878	1.0:0.0:0.0:0.0	.	25	Q8WXH5	SOCS4_HUMAN	G	25	ENSP00000378855:D25G;ENSP00000452522:D25G;ENSP00000341327:D25G	ENSP00000341327:D25G	D	+	2	0	SOCS4	54579586	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	7.722000	0.84778	2.201000	0.70794	0.533000	0.62120	GAC		0.363	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			13	57	0	0	0	0	13	57				
ZBTB1	22890	broad.mit.edu	37	14	64989074	64989074	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:64989074C>T	ENST00000554015.1	+	4	1283	c.852C>T	c.(850-852)taC>taT	p.Y284Y	ZBTB1_ENST00000358738.3_Silent_p.Y284Y|ZBTB1_ENST00000394712.2_Silent_p.Y284Y|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	284					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CGGACAAATACAGAGGAGACA	0.398																																						uc001xhh.3		NA																	0				skin(1)	1						c.(850-852)TAC>TAT		zinc finger and BTB domain containing 1 isoform							39.0	41.0	41.0					14																	64989074		2203	4299	6502	SO:0001819	synonymous_variant	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64989074C>T	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.852C>T	14.37:g.64989074C>T						ZBTB1_uc010aqg.2_Silent_p.Y284Y|ZBTB1_uc001xhi.2_Silent_p.Y284Y	p.Y284Y	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	4	1283	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	284					A8K6S8|Q86SW8	Silent	SNP	ENST00000554015.1	37	c.852C>T	CCDS45126.1																																																																																				0.398	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			11	44	0	0	0	0	11	44				
EIF2S1	1965	broad.mit.edu	37	14	67843302	67843302	+	Silent	SNP	A	A	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:67843302A>C	ENST00000256383.4	+	4	929	c.468A>C	c.(466-468)gcA>gcC	p.A156A	EIF2S1_ENST00000466499.2_Silent_p.A156A	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	156					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)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		TTAAGCATGCAGTCTCGTAAG	0.428																																						uc001xjg.2		NA																	0				ovary(1)	1						c.(466-468)GCA>GCC		eukaryotic translation initiation factor 2,							130.0	124.0	126.0					14																	67843302		2203	4300	6503	SO:0001819	synonymous_variant	1965					cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity	g.chr14:67843302A>C	J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"""eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"""	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.468A>C	14.37:g.67843302A>C							p.A156A	NM_004094	NP_004085	P05198	IF2A_HUMAN		all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)	4	609	+			156						Silent	SNP	ENST00000256383.4	37	c.468A>C	CCDS9781.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.506360	0.26949	.	.	ENSG00000134001	ENST00000555876	.	.	.	5.82	4.68	0.58851	.	.	.	.	.	T	0.63462	0.2513	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60637	-0.7224	4	.	.	.	-16.6471	11.8616	0.52469	0.9318:0.0:0.0682:0.0	.	.	.	.	P	113	.	.	Q	+	2	0	EIF2S1	66913055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.386000	0.34419	1.024000	0.39682	0.533000	0.62120	CAG		0.428	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074342.3	NM_004094		20	71	0	0	0	0	20	71				
AHNAK2	113146	broad.mit.edu	37	14	105410852	105410852	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:105410852G>A	ENST00000333244.5	-	7	11055	c.10936C>T	c.(10936-10938)Ccg>Tcg	p.P3646S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3646						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)			CTGAATGACGGCATCTTGAAT	0.592																																						uc010axc.1		NA																	0				ovary(1)	1						c.(10936-10938)CCG>TCG		AHNAK nucleoprotein 2							194.0	206.0	202.0					14																	105410852		2001	4167	6168	SO:0001583	missense	113146					nucleus		g.chr14:105410852G>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.10936C>T	14.37:g.105410852G>A	ENSP00000353114:p.Pro3646Ser					AHNAK2_uc001ypx.2_Missense_Mutation_p.P3546S	p.P3646S	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	11056	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3646					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10936C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	16.69	3.193628	0.58017	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	4.3	3.39	0.38822	.	.	.	.	.	T	0.22936	0.0554	H	0.95745	3.715	0.33564	D	0.597703	D	0.71674	0.998	D	0.63113	0.911	T	0.50039	-0.8874	9	0.66056	D	0.02	.	11.4538	0.50169	0.0887:0.0:0.9113:0.0	.	3646	Q8IVF2	AHNK2_HUMAN	S	3646	ENSP00000353114:P3646S	ENSP00000353114:P3646S	P	-	1	0	AHNAK2	104481897	1.000000	0.71417	0.988000	0.46212	0.106000	0.19336	5.451000	0.66632	1.946000	0.56461	0.491000	0.48974	CCG		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	375	0	0	0	0	6	375				
EPB42	2038	broad.mit.edu	37	15	43503700	43503700	+	Missense_Mutation	SNP	G	G	A	rs146473183		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:43503700G>A	ENST00000441366.2	-	4	688	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	EPB42_ENST00000540029.1_Missense_Mutation_p.R77C|EPB42_ENST00000300215.3_Missense_Mutation_p.R185C	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	155					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TACTCCATGCGCTGAGCCTCA	0.582																																						uc001zra.3		NA																	0				ovary(2)	2						c.(463-465)CGC>TGC		erythrocyte membrane protein band 4.2 isoform 2		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	162.0	127.0	139.0		553,463	4.0	0.7	15	dbSNP_134	139	0,8598		0,0,4299	no	missense,missense	EPB42	NM_000119.2,NM_001114134.1	180,180	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	185/722,155/692	43503700	1,13003	2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43503700G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.463C>T	15.37:g.43503700G>A	ENSP00000396616:p.Arg155Cys					EPB42_uc001zqz.3_5'Flank|EPB42_uc010bde.2_5'UTR|EPB42_uc001zrb.3_Missense_Mutation_p.R185C|EPB42_uc010udm.1_Missense_Mutation_p.R77C	p.R155C	NM_001114134	NP_001107606	P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	4	763	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	155					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.463C>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.946131	0.34377	2.27E-4	0.0	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.92149	-2.98;-1.84;-2.98	5.84	3.98	0.46160	.	0.050671	0.85682	N	0.000000	D	0.89171	0.6639	M	0.77820	2.39	0.41136	D	0.985927	P;P;P	0.47604	0.534;0.898;0.836	B;B;B	0.38327	0.097;0.271;0.181	D	0.86952	0.2086	10	0.66056	D	0.02	-5.6878	5.4953	0.16799	0.1634:0.0:0.6768:0.1598	.	77;185;155	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	C	185;77;155;155	ENSP00000300215:R185C;ENSP00000444699:R77C;ENSP00000396616:R155C	ENSP00000300215:R185C	R	-	1	0	EPB42	41290992	0.504000	0.26123	0.680000	0.29994	0.419000	0.31324	0.800000	0.27042	0.838000	0.34948	0.655000	0.94253	CGC		0.582	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		29	56	0	0	0	0	29	56				
FBN1	2200	broad.mit.edu	37	15	48760184	48760184	+	Silent	SNP	C	C	G	rs143544916		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:48760184C>G	ENST00000316623.5	-	38	5153	c.4698G>C	c.(4696-4698)ctG>ctC	p.L1566L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1566	TB 6.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGGCTTTACCCAGAGAACAGC	0.453																																						uc001zwx.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(4696-4698)CTG>CTC		fibrillin 1 precursor							107.0	107.0	107.0					15																	48760184		2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48760184C>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4698G>C	15.37:g.48760184C>G						FBN1_uc010beo.1_RNA	p.L1566L	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	38	5026	-		all_lung(180;0.00279)	1566			TB 6.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.4698G>C	CCDS32232.1																																																																																				0.453	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			17	63	0	0	0	0	17	63				
SPPL2A	84888	broad.mit.edu	37	15	51031995	51031995	+	Silent	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:51031995A>G	ENST00000261854.5	-	6	889	c.615T>C	c.(613-615)gaT>gaC	p.D205D		NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	205					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TCATTTCTCTATCTTCAGTTG	0.318																																					Melanoma(50;790 1209 4069 22965 33125)	uc001zyv.2		NA																	0					0						c.(613-615)GAT>GAC		signal peptide peptidase-like 2A							107.0	108.0	108.0					15																	51031995		2196	4290	6486	SO:0001819	synonymous_variant	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51031995A>G		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.615T>C	15.37:g.51031995A>G							p.D205D	NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	6	795	-			205					B2RDS0|Q8TAW1|Q96SZ8	Silent	SNP	ENST00000261854.5	37	c.615T>C	CCDS10138.1																																																																																				0.318	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		14	54	0	0	0	0	14	54				
BNC1	646	broad.mit.edu	37	15	83932492	83932492	+	Missense_Mutation	SNP	G	G	A	rs189311441	byFrequency	TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:83932492G>A	ENST00000345382.2	-	4	1596	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.T497M	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	504					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	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(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TATCCCAGGCGTGTTTGCTAC	0.512													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21296	0.0		0.0	False		,,,				2504	0.0					uc002bjt.1		NA																	0				ovary(3)	3						c.(1510-1512)ACG>ATG		basonuclin 1							80.0	69.0	73.0					15																	83932492		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83932492G>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1511C>T	15.37:g.83932492G>A	ENSP00000307041:p.Thr504Met					BNC1_uc010uos.1_Missense_Mutation_p.T492M	p.T504M	NM_001717	NP_001708	Q01954	BNC1_HUMAN			4	1599	-			504					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.1511C>T	CCDS10324.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.5	3.996225	0.74703	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.53857	0.6	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.73916	0.3648	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	T	0.74210	-0.3739	10	0.49607	T	0.09	-20.6073	19.4213	0.94723	0.0:0.0:1.0:0.0	.	497;504	F5GY04;Q01954	.;BNC1_HUMAN	M	504;497	ENSP00000307041:T504M	ENSP00000307041:T504M	T	-	2	0	BNC1	81723496	1.000000	0.71417	0.931000	0.37212	0.973000	0.67179	9.787000	0.99055	2.589000	0.87451	0.655000	0.94253	ACG		0.512	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		27	67	0	0	0	0	27	67				
ADAMTSL3	57188	broad.mit.edu	37	15	84690198	84690198	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:84690198C>G	ENST00000286744.5	+	26	4534	c.4310C>G	c.(4309-4311)tCt>tGt	p.S1437C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1437C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1437	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCACATTGTTCTGCCACCTGT	0.517																																						uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(4309-4311)TCT>TGT		ADAMTS-like 3 precursor							133.0	136.0	135.0					15																	84690198		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84690198C>G	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4310C>G	15.37:g.84690198C>G	ENSP00000286744:p.Ser1437Cys					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.S1437C|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.S1437C	p.S1437C	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		26	4534	+			1437			TSP type-1 8.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.4310C>G	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387104	0.61956	.	.	ENSG00000156218	ENST00000286744	T	0.69926	-0.44	5.28	4.35	0.52113	.	0.000000	0.37136	N	0.002224	D	0.87989	0.6317	H	0.98155	4.16	0.31849	N	0.62254	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91772	0.5428	10	0.87932	D	0	.	13.6902	0.62542	0.1544:0.8456:0.0:0.0	.	1437;1437	P82987-2;P82987	.;ATL3_HUMAN	C	1437	ENSP00000286744:S1437C	ENSP00000286744:S1437C	S	+	2	0	ADAMTSL3	82481202	1.000000	0.71417	0.657000	0.29651	0.940000	0.58332	3.590000	0.53979	1.208000	0.43306	0.561000	0.74099	TCT		0.517	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		14	212	0	0	0	0	14	212				
BLM	641	broad.mit.edu	37	15	91346818	91346818	+	Silent	SNP	C	C	T	rs147148171		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:91346818C>T	ENST00000355112.3	+	18	3544	c.3426C>T	c.(3424-3426)gcC>gcT	p.A1142A	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1142					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GACACAATGCCGAAAGACTTT	0.373			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													uc002bpr.2		NA	yes	Rec		Bloom Syndrome	15	15q26.1	641	Mis|N|F	Bloom Syndrome			"""L, E"""		leukemia|lymphoma|skin squamous cell |other cancers			0				ovary(3)|skin(2)|breast(1)	6						c.(3424-3426)GCC>GCT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom syndrome protein		C		1,4395	2.1+/-5.4	0,1,2197	87.0	87.0	87.0		3426	-11.3	0.3	15	dbSNP_134	87	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	BLM	NM_000057.2		0,2,6494	TT,TC,CC		0.0116,0.0227,0.0154		1142/1418	91346818	2,12990	2198	4298	6496	SO:0001819	synonymous_variant	641	Bloom_syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91346818C>T	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3426C>T	15.37:g.91346818C>T						BLM_uc010uqh.1_Silent_p.A1142A|BLM_uc010uqi.1_Silent_p.A767A|BLM_uc010bnx.2_Intron|BLM_uc002bpt.2_Silent_p.A117A	p.A1142A	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		18	3523	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		1142					Q52M96	Silent	SNP	ENST00000355112.3	37	c.3426C>T	CCDS10363.1																																																																																				0.373	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			21	61	0	0	0	0	21	61				
SV2B	9899	broad.mit.edu	37	15	91769696	91769696	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:91769696C>T	ENST00000394232.1	+	2	673	c.203C>T	c.(202-204)cCc>cTc	p.P68L	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.P68L	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	68					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AAGATGGCGCCCTCCAGAATG	0.577																																						uc002bqv.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(202-204)CCC>CTC		synaptic vesicle protein 2B homolog							101.0	87.0	92.0					15																	91769696		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91769696C>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.203C>T	15.37:g.91769696C>T	ENSP00000377779:p.Pro68Leu					SV2B_uc002bqt.2_Missense_Mutation_p.P68L|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	p.P68L	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		1	594	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		68			Cytoplasmic (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.203C>T	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	C	3.351	-0.132508	0.06753	.	.	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.29655	1.56;1.56	5.71	4.79	0.61399	.	0.586399	0.20683	N	0.087607	T	0.25306	0.0615	L	0.36672	1.1	0.19945	N	0.999943	B	0.19583	0.037	B	0.20184	0.028	T	0.13255	-1.0516	10	0.24483	T	0.36	-6.6896	13.3599	0.60650	0.0:0.9233:0.0:0.0767	.	68	Q7L1I2	SV2B_HUMAN	L	68	ENSP00000377779:P68L;ENSP00000332818:P68L	ENSP00000332818:P68L	P	+	2	0	SV2B	89570700	0.001000	0.12720	0.397000	0.26308	0.129000	0.20672	1.415000	0.34748	1.416000	0.47057	0.563000	0.77884	CCC		0.577	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		18	44	0	0	0	0	18	44				
SLX4	84464	broad.mit.edu	37	16	3646278	3646278	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:3646278C>T	ENST00000294008.3	-	8	2440	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	600	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCGAAGGCGACGGGCCCCTGG	0.731								Direct reversal of damage																														uc002cvp.2		NA																	0					0						c.(1798-1800)CCG>CCA	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							8.0	10.0	10.0					16																	3646278		2157	4235	6392	SO:0001819	synonymous_variant	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3646278C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1800G>A	16.37:g.3646278C>T							p.P600P	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			8	2427	-			600			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.1800G>A	CCDS10506.2																																																																																				0.731	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		3	5	0	0	0	0	3	5				
TMC7	79905	broad.mit.edu	37	16	19047109	19047109	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:19047109G>A	ENST00000304381.5	+	7	1099	c.969G>A	c.(967-969)gcG>gcA	p.A323A	TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Silent_p.A323A|TMC7_ENST00000421369.3_Silent_p.A213A	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	323					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GCAGCATGGCGGATCTGAAGC	0.542																																						uc002dfq.2		NA																	0				skin(2)|ovary(1)	3						c.(967-969)GCG>GCA		transmembrane channel-like 7 isoform a							127.0	112.0	117.0					16																	19047109		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19047109G>A	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.969G>A	16.37:g.19047109G>A						TMC7_uc010vao.1_Silent_p.A323A|TMC7_uc002dfp.2_Silent_p.A323A|TMC7_uc010vap.1_Silent_p.A213A	p.A323A	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN			7	1099	+			323			Cytoplasmic (Potential).		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.969G>A	CCDS10573.1																																																																																				0.542	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		24	51	0	0	0	0	24	51				
ACSM5	54988	broad.mit.edu	37	16	20439133	20439133	+	Silent	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:20439133C>A	ENST00000331849.4	+	7	1092	c.945C>A	c.(943-945)acC>acA	p.T315T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	315					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCCCGATAACCACCCTCTGCT	0.478																																						uc002dhe.2		NA																	0				ovary(2)	2						c.(943-945)ACC>ACA		acyl-CoA synthetase medium-chain family member 5							229.0	205.0	213.0					16																	20439133		2203	4300	6503	SO:0001819	synonymous_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20439133C>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.945C>A	16.37:g.20439133C>A							p.T315T	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			7	1092	+			315					Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	c.945C>A	CCDS10585.1																																																																																				0.478	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		58	152	1	0	6.13e-21	1.37e-20	58	152				
ZNF423	23090	broad.mit.edu	37	16	49764836	49764836	+	Silent	SNP	C	C	T	rs566780634		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:49764836C>T	ENST00000561648.1	-	3	176	c.123G>A	c.(121-123)gcG>gcA	p.A41A	ZNF423_ENST00000562520.1_5'UTR|ZNF423_ENST00000262383.2_Silent_p.A41A|ZNF423_ENST00000562871.1_5'UTR|ZNF423_ENST00000563137.2_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	41					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGTCTTCCAGCGCACGGCTGG	0.512																																						uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(121-123)GCG>GCA		zinc finger protein 423							352.0	296.0	315.0					16																	49764836		2198	4300	6498	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49764836C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.123G>A	16.37:g.49764836C>T							p.A41A	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			4	421	-		all_cancers(37;0.0155)	41					O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.123G>A	CCDS32445.1																																																																																				0.512	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		39	248	0	0	0	0	39	248				
HYDIN	54768	broad.mit.edu	37	16	71163606	71163606	+	Missense_Mutation	SNP	C	C	G	rs929312	byFrequency	TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:71163606C>G	ENST00000393567.2	-	9	1314	c.1164G>C	c.(1162-1164)caG>caC	p.Q388H	HYDIN_ENST00000448089.2_Missense_Mutation_p.Q388H|HYDIN_ENST00000538248.1_Missense_Mutation_p.Q415H|HYDIN_ENST00000393550.2_Missense_Mutation_p.Q388H|HYDIN_ENST00000541601.1_Missense_Mutation_p.Q405H|HYDIN_ENST00000288168.10_Missense_Mutation_p.Q405H|HYDIN_ENST00000448691.1_Missense_Mutation_p.Q388H|HYDIN_ENST00000321489.5_Missense_Mutation_p.Q388H	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	388					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)				CCAGCCTCCTCTGATTCGCAA	0.448																																						uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(1162-1164)CAG>CAC		hydrocephalus inducing isoform a							69.0	69.0	69.0					16																	71163606		2198	4300	6498	SO:0001583	missense	54768							g.chr16:71163606C>G	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.1164G>C	16.37:g.71163606C>G	ENSP00000377197:p.Gln388His					HYDIN_uc010cfz.1_Missense_Mutation_p.Q133H|HYDIN_uc002ezv.2_Missense_Mutation_p.Q388H|HYDIN_uc010vmc.1_Missense_Mutation_p.Q405H|HYDIN_uc010vmd.1_Missense_Mutation_p.Q415H|HYDIN_uc002ezw.3_Missense_Mutation_p.Q405H	p.Q388H	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			9	1292	-		Ovarian(137;0.0654)	388					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.1164G>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	c	7.461	0.644726	0.14451	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.15487	5.51;3.65;3.66;3.66;3.63;3.63;3.3;2.42	4.97	0.354	0.16063	.	0.271337	0.18907	U	0.127876	T	0.09555	0.0235	L	0.28740	0.885	0.26426	N	0.976011	B;B;B;B;B	0.14805	0.007;0.007;0.01;0.007;0.011	B;B;B;B;B	0.17433	0.015;0.015;0.018;0.009;0.011	T	0.19943	-1.0290	10	0.42905	T	0.14	.	2.1967	0.03913	0.1287:0.403:0.2882:0.1801	.	415;405;405;388;388	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	H	388;388;388;388;388;415;405;405;388	ENSP00000377197:Q388H;ENSP00000398544:Q388H;ENSP00000394826:Q388H;ENSP00000314736:Q388H;ENSP00000444970:Q415H;ENSP00000437341:Q405H;ENSP00000288168:Q405H;ENSP00000377181:Q388H	ENSP00000288168:Q405H	Q	-	3	2	HYDIN	69721107	0.973000	0.33851	0.870000	0.34147	0.202000	0.24057	0.415000	0.21181	0.226000	0.20979	0.499000	0.49734	CAG		0.448	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			5	40	0	0	0	0	5	40				
ANKRD11	29123	broad.mit.edu	37	16	89351652	89351652	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:89351652A>C	ENST00000301030.4	-	9	1758	c.1298T>G	c.(1297-1299)aTa>aGa	p.I433R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.I433R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	433					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ACCAGGCAATATCGTATGTGC	0.488																																						uc002fmx.1		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1297-1299)ATA>AGA		ankyrin repeat domain 11							85.0	76.0	79.0					16																	89351652		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89351652A>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1298T>G	16.37:g.89351652A>C	ENSP00000301030:p.Ile433Arg					ANKRD11_uc002fmy.1_Missense_Mutation_p.I433R|ANKRD11_uc002fnc.1_Missense_Mutation_p.I433R|ANKRD11_uc002fnb.1_Missense_Mutation_p.I390R	p.I433R	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	1759	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	433					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.1298T>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.554448	0.00918	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.37584	1.19;1.19	5.47	4.38	0.52667	.	0.906361	0.09753	N	0.760265	T	0.26304	0.0642	L	0.36672	1.1	0.20703	N	0.999865	P;P	0.41569	0.755;0.557	B;B	0.39258	0.295;0.064	T	0.06373	-1.0830	10	0.12103	T	0.63	.	7.2018	0.25885	0.7795:0.1465:0.074:0.0	.	52;433	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	R	433;433;52	ENSP00000301030:I433R;ENSP00000367581:I433R	ENSP00000301030:I433R	I	-	2	0	ANKRD11	87879153	0.022000	0.18835	0.001000	0.08648	0.003000	0.03518	3.006000	0.49529	0.927000	0.37143	0.460000	0.39030	ATA		0.488	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		6	89	0	0	0	0	6	89				
ZMYND15	84225	broad.mit.edu	37	17	4647997	4647997	+	Silent	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:4647997C>G	ENST00000433935.1	+	11	1818	c.1761C>G	c.(1759-1761)ggC>ggG	p.G587G	ZMYND15_ENST00000592813.1_Silent_p.G548G|ZMYND15_ENST00000269289.6_Silent_p.G548G|ZMYND15_ENST00000573751.2_Silent_p.G587G	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	587					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						AGAAAGGGGGCCGCAGGGACC	0.622																																						uc002fyt.2		NA																	0					0						c.(1642-1644)GGC>GGG		zinc finger, MYND-type containing 15 isoform 2							55.0	61.0	59.0					17																	4647997		2203	4300	6503	SO:0001819	synonymous_variant	84225						zinc ion binding	g.chr17:4647997C>G	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1761C>G	17.37:g.4647997C>G						ZMYND15_uc002fyv.2_Silent_p.G587G|ZMYND15_uc002fyu.2_Silent_p.G587G	p.G548G	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN			10	1683	+			548					B4DXY5|I3L296	Silent	SNP	ENST00000433935.1	37	c.1644C>G	CCDS45584.1																																																																																				0.622	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		7	69	0	0	0	0	7	69				
TP53	7157	broad.mit.edu	37	17	7578522	7578522	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:7578522T>A	ENST00000269305.4	-	5	597	c.408A>T	c.(406-408)caA>caT	p.Q136H	TP53_ENST00000359597.4_Missense_Mutation_p.Q136H|TP53_ENST00000420246.2_Missense_Mutation_p.Q136H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.Q136H|TP53_ENST00000455263.2_Missense_Mutation_p.Q136H|TP53_ENST00000445888.2_Missense_Mutation_p.Q136H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q136H(5)|p.Q136Q(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.C42fs*9(1)|p.K132_A138delKMFCQLA(1)|p.L137fs*12(1)|p.S127_Q136del10(1)|p.C3fs*9(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_A138delCQLA(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTTGGCCAGTTGGCAAAACA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		33	Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(5)|Substitution - coding silent(4)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	p.Q136*(28)|p.0?(7)|p.Q136H(5)|p.Q136Q(4)|p.Q136P(3)|p.Q136E(3)|p.Q136fs*13(2)|p.N131fs*27(2)|p.Q136R(2)|p.Q136fs*34(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.Q136K(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.L137fs*12(1)|p.S127_Q136del10(1)|p.Q136_K139delQLAK(1)|p.C135_Q136insX(1)|p.C135_Q136insXXXXXX(1)	urinary_tract(7)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|bone(4)|central_nervous_system(3)|oesophagus(3)|breast(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|stomach(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM064342	TP53	M		c.(406-408)CAA>CAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							53.0	53.0	53.0					17																	7578522		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578522T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.408A>T	17.37:g.7578522T>A	ENSP00000269305:p.Gln136His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Q136H|TP53_uc002gih.2_Missense_Mutation_p.Q136H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Q4H|TP53_uc010cng.1_Missense_Mutation_p.Q4H|TP53_uc002gii.1_Missense_Mutation_p.Q4H|TP53_uc010cnh.1_Missense_Mutation_p.Q136H|TP53_uc010cni.1_Missense_Mutation_p.Q136H|TP53_uc002gij.2_Missense_Mutation_p.Q136H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Q43H|TP53_uc002gio.2_Missense_Mutation_p.Q4H|TP53_uc010vug.1_Missense_Mutation_p.Q97H	p.Q136H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	602	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	136		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> E (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.408A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954699	0.73902	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99807	-6.85;-6.85;-6.85;-6.85;-6.85;-6.85;-6.85;-6.85;-6.85	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	M	0.85373	2.75	0.53005	D	0.999961	D;D;D;D;D;D;D	0.89917	0.998;1.0;0.987;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.83275	0.976;0.989;0.742;0.991;0.996;0.993;0.991	D	0.98710	1.0704	10	0.87932	D	0	-25.5387	8.2773	0.31879	0.0:0.7541:0.0:0.2459	.	97;136;136;43;136;136;136	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	136;136;136;136;136;136;125;43;4;43;4;136	ENSP00000410739:Q136H;ENSP00000352610:Q136H;ENSP00000269305:Q136H;ENSP00000398846:Q136H;ENSP00000391127:Q136H;ENSP00000391478:Q136H;ENSP00000425104:Q4H;ENSP00000423862:Q43H;ENSP00000424104:Q136H	ENSP00000269305:Q136H	Q	-	3	2	TP53	7519247	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	2.728000	0.47319	0.795000	0.33922	-0.146000	0.13790	CAA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	44	0	0	0	0	10	44				
CTC1	80169	broad.mit.edu	37	17	8132760	8132760	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:8132760G>A	ENST00000315684.8	-	19	3023	c.3016C>T	c.(3016-3018)Ccc>Tcc	p.P1006S		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1006					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TGGGGCAGGGGAATGCTAAAT	0.527																																						uc002gkq.3		NA																	0					0						c.(3016-3018)CCC>TCC		alpha accessory factor 132							83.0	84.0	84.0					17																	8132760		1966	4155	6121	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8132760G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3016C>T	17.37:g.8132760G>A	ENSP00000313759:p.Pro1006Ser					C17orf68_uc010cnv.2_RNA	p.P1006S	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN			19	3075	-			1006					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.3016C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	1.673	-0.508379	0.04231	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.84223	-1.82;-1.82	5.56	3.3	0.37823	.	0.308515	0.35555	N	0.003129	T	0.75686	0.3883	L	0.43701	1.375	0.20489	N	0.999896	B	0.21753	0.06	B	0.20955	0.032	T	0.57046	-0.7878	10	0.15066	T	0.55	-8.0312	7.4474	0.27219	0.235:0.0:0.765:0.0	.	1006	Q2NKJ3	CTC1_HUMAN	S	1006;971	ENSP00000313759:P1006S;ENSP00000396018:P971S	ENSP00000313759:P1006S	P	-	1	0	CTC1	8073485	0.019000	0.18553	0.033000	0.17914	0.021000	0.10359	0.720000	0.25896	0.520000	0.28426	0.591000	0.81541	CCC		0.527	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		10	61	0	0	0	0	10	61				
SYNRG	11276	broad.mit.edu	37	17	35880712	35880712	+	Missense_Mutation	SNP	G	G	A	rs200645501		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:35880712G>A	ENST00000339208.6	-	20	3846	c.3706C>T	c.(3706-3708)Cgg>Tgg	p.R1236W	SYNRG_ENST00000345615.4_Missense_Mutation_p.R1158W|SYNRG_ENST00000591288.1_Missense_Mutation_p.R1030W|SYNRG_ENST00000585472.1_Missense_Mutation_p.R1157W|SYNRG_ENST00000502449.2_Missense_Mutation_p.R1113W|SYNRG_ENST00000394378.2_Missense_Mutation_p.R1181W|SYNRG_ENST00000346661.4_Missense_Mutation_p.R1236W	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1236					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCCCAGGCCGTAACATACAG	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21170	0.0		0.0	False		,,,				2504	0.0					uc002hoa.2		NA																	0				ovary(2)	2						c.(3706-3708)CGG>TGG		synergin, gamma isoform 1							77.0	80.0	79.0					17																	35880712		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35880712G>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3706C>T	17.37:g.35880712G>A	ENSP00000343610:p.Arg1236Trp					SYNRG_uc010wde.1_Missense_Mutation_p.R1181W|SYNRG_uc010wdf.1_Missense_Mutation_p.R1158W|SYNRG_uc002hoc.2_Missense_Mutation_p.R1157W|SYNRG_uc002hoe.2_Missense_Mutation_p.R1158W|SYNRG_uc002hod.2_Missense_Mutation_p.R1113W|SYNRG_uc010wdg.1_Missense_Mutation_p.R1030W|SYNRG_uc002hob.2_Missense_Mutation_p.R1236W	p.R1236W	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN			20	3789	-			1236					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.3706C>T	CCDS11321.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	26.3	4.727143	0.89390	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.53206	1.33;0.63	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;1.0;1.0;0.995;0.999;0.999	T	0.70292	-0.4912	10	0.87932	D	0	-11.015	19.5168	0.95168	0.0:0.0:1.0:0.0	.	1030;1158;1181;1158;1236;1236	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	W	1236;1030;1236;1158;1181	ENSP00000005279:R1236W;ENSP00000377903:R1181W	ENSP00000343610:R1030W	R	-	1	2	SYNRG	32954825	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	4.112000	0.57845	2.621000	0.88768	0.591000	0.81541	CGG		0.517	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		14	52	0	0	0	0	14	52				
KRT14	3861	broad.mit.edu	37	17	39740574	39740574	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:39740574C>A	ENST00000167586.6	-	3	786	c.700G>T	c.(700-702)Gac>Tac	p.D234Y		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	234	Coil 1B.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				ATCTCCAGGTCAGCTCTGGCC	0.522																																						uc002hxf.1		NA																	0				ovary(1)	1						c.(700-702)GAC>TAC		keratin 14							110.0	114.0	112.0					17																	39740574		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740574C>A	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.700G>T	17.37:g.39740574C>A	ENSP00000167586:p.Asp234Tyr					JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.D234Y	p.D234Y	NM_000526	NP_000517	P02533	K1C14_HUMAN			3	761	-		Breast(137;0.000307)	234			Coil 1B.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.700G>T	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103875	0.94245	.	.	ENSG00000186847	ENST00000167586	D	0.92299	-3.01	5.56	5.56	0.83823	Prefoldin (1);Filament (1);	0.000000	0.56097	D	0.000024	D	0.98140	0.9386	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99198	1.0872	10	0.87932	D	0	.	19.8898	0.96926	0.0:1.0:0.0:0.0	.	234	P02533	K1C14_HUMAN	Y	234	ENSP00000167586:D234Y	ENSP00000167586:D234Y	D	-	1	0	KRT14	36994100	1.000000	0.71417	0.966000	0.40874	0.988000	0.76386	7.722000	0.84778	2.775000	0.95449	0.655000	0.94253	GAC		0.522	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		6	172	1	0	0.00307968	0.00615936	6	172				
RUNDC1	146923	broad.mit.edu	37	17	41142894	41142894	+	Missense_Mutation	SNP	C	C	T	rs199952607		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:41142894C>T	ENST00000361677.1	+	5	1015	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	335										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GAAGAAAGTCCGGGAGACGGG	0.557																																						uc002ici.1		NA																	0					0						c.(1003-1005)CGG>TGG		RUN domain containing 1							65.0	67.0	67.0					17																	41142894		2202	4298	6500	SO:0001583	missense	146923							g.chr17:41142894C>T	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1003C>T	17.37:g.41142894C>T	ENSP00000354622:p.Arg335Trp					RUNDC1_uc010whi.1_Missense_Mutation_p.R105W	p.R335W	NM_173079	NP_775102	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	1015	+		Breast(137;0.00499)	335					Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	37	c.1003C>T	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582362	0.65992	.	.	ENSG00000198863	ENST00000361677	T	0.23552	1.9	5.07	4.07	0.47477	.	0.315553	0.29924	N	0.010844	T	0.40743	0.1129	M	0.77820	2.39	0.48288	D	0.999624	D	0.65815	0.995	P	0.51170	0.661	T	0.47522	-0.9111	10	0.87932	D	0	-13.5019	12.6336	0.56671	0.3011:0.6989:0.0:0.0	.	335	Q96C34	RUND1_HUMAN	W	335	ENSP00000354622:R335W	ENSP00000354622:R335W	R	+	1	2	RUNDC1	38396420	1.000000	0.71417	0.242000	0.24170	0.740000	0.42216	2.394000	0.44450	1.302000	0.44855	0.655000	0.94253	CGG		0.557	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		23	77	0	0	0	0	23	77				
KANSL1	284058	broad.mit.edu	37	17	44110824	44110824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:44110824C>T	ENST00000262419.6	-	12	3139	c.2669G>A	c.(2668-2670)tGg>tAg	p.W890*	KANSL1_ENST00000393476.3_Nonsense_Mutation_p.W184*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.W890*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.W890*|RP11-669E14.6_ENST00000570454.1_RNA|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.W826*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.W890*	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	890	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AACCTCCCGCCAGCTGCAAAA	0.498																																						uc002ikb.2		NA																	0				skin(2)	2						c.(2668-2670)TGG>TAG		hypothetical protein LOC284058							69.0	59.0	62.0					17																	44110824		2203	4300	6503	SO:0001587	stop_gained	284058					MLL1 complex	protein binding	g.chr17:44110824C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2669G>A	17.37:g.44110824C>T	ENSP00000262419:p.Trp890*					KIAA1267_uc002ikc.2_Nonsense_Mutation_p.W890*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.W890*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.W889*|KIAA1267_uc010wkb.1_Nonsense_Mutation_p.W221*|KIAA1267_uc010wkc.1_Nonsense_Mutation_p.W158*	p.W890*	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			11	2754	-		Melanoma(429;0.211)	890					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP	ENST00000262419.6	37	c.2669G>A	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	54	23.099816	0.99953	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	.	.	.	5.83	5.83	0.93111	.	0.056441	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0499	16.8667	0.86030	0.0:1.0:0.0:0.0	.	.	.	.	X	890;890;184	.	ENSP00000262419:W890X	W	-	2	0	KIAA1267	41466671	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.111000	0.64628	2.770000	0.95276	0.655000	0.94253	TGG		0.498	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		4	36	0	0	0	0	4	36				
USP32	84669	broad.mit.edu	37	17	58329765	58329765	+	Silent	SNP	C	C	T	rs61751977	byFrequency	TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:58329765C>T	ENST00000300896.4	-	11	1307	c.1113G>A	c.(1111-1113)ccG>ccA	p.P371P	USP32_ENST00000592339.1_Silent_p.P41P|USP32_ENST00000393003.3_Silent_p.P371P	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	371	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTTCTTCTTCCGGAGTAGCTG	0.328													C|||	11	0.00219649	0.0	0.0043	5008	,	,		17512	0.0		0.007	False		,,,				2504	0.001					uc002iyo.1		NA																	0				lung(2)|breast(2)|large_intestine(1)	5						c.(1111-1113)CCG>CCA		ubiquitin specific protease 32		C		4,4402	8.1+/-20.4	0,4,2199	56.0	55.0	55.0		1113	1.4	1.0	17	dbSNP_129	55	54,8544	33.3+/-86.6	0,54,4245	no	coding-synonymous	USP32	NM_032582.3		0,58,6444	TT,TC,CC		0.6281,0.0908,0.446		371/1605	58329765	58,12946	2203	4299	6502	SO:0001819	synonymous_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58329765C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1113G>A	17.37:g.58329765C>T						USP32_uc002iyn.1_Silent_p.P41P|USP32_uc010wov.1_Silent_p.P371P	p.P371P	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		11	1399	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		371			DUSP.		Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	c.1113G>A	CCDS32697.1																																																																																				0.328	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		6	22	0	0	0	0	6	22				
HGS	9146	broad.mit.edu	37	17	79658578	79658578	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:79658578G>A	ENST00000329138.4	+	8	774	c.639G>A	c.(637-639)gaG>gaA	p.E213E		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	213					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCGTGTGTGAGCCCTGCTACG	0.602																																						uc002kbg.2		NA																	0				ovary(1)	1						c.(637-639)GAG>GAA		hepatocyte growth factor-regulated tyrosine							133.0	115.0	121.0					17																	79658578		2203	4300	6503	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79658578G>A	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.639G>A	17.37:g.79658578G>A						HGS_uc010wus.1_Silent_p.E213E	p.E213E	NM_004712	NP_004703	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		8	716	+	all_neural(118;0.0878)|all_lung(278;0.23)		213			FYVE-type.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.639G>A	CCDS11784.1																																																																																				0.602	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		34	91	0	0	0	0	34	91				
MYOM1	8736	broad.mit.edu	37	18	3188908	3188908	+	Silent	SNP	T	T	C	rs562448650	byFrequency	TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:3188908T>C	ENST00000356443.4	-	4	942	c.609A>G	c.(607-609)acA>acG	p.T203T	MYOM1_ENST00000400569.3_Silent_p.T203T|MYOM1_ENST00000261606.7_Silent_p.T203T|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	203	6 X 6 AA tandem repeats.				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)	p.T203T(1)		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						GCTTGGATGCTGTGGACTGCT	0.532													T|||	3	0.000599042	0.0008	0.0014	5008	,	,		15502	0.0		0.0	False		,,,				2504	0.001					uc002klp.2		NA																	1	Substitution - coding silent(1)		kidney(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(607-609)ACA>ACG		myomesin 1 isoform a							299.0	284.0	289.0					18																	3188908		2069	4192	6261	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3188908T>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.609A>G	18.37:g.3188908T>C						MYOM1_uc002klq.2_Silent_p.T203T	p.T203T	NM_003803	NP_003794	P52179	MYOM1_HUMAN			4	943	-			203			4.|6 X 6 AA tandem repeats.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.609A>G	CCDS45824.1																																																																																				0.532	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		3	95	0	0	0	0	3	95				
TXNDC2	84203	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:9887074G>A	ENST00000306084.6	+	2	797	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_ENST00000357775.5_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	200	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAGAAGCCATCCA	0.577																																						uc002koi.3		NA																	0				ovary(1)|pancreas(1)	2						c.(598-600)GAA>AAA		thioredoxin domain-containing 2 isoform 2							152.0	154.0	153.0					18																	9887074		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887074G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.598G>A	18.37:g.9887074G>A	ENSP00000304908:p.Glu200Lys					TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Missense_Mutation_p.E133K	p.E200K	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN			2	1047	+			200			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|6.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.598G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	1.272	-0.612710	0.03690	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16457	2.34;2.34	3.48	-6.08	0.02151	.	1.613580	0.03995	N	0.295530	T	0.05456	0.0144	N	0.02539	-0.55	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.34204	-0.9838	9	.	.	.	-1.8327	6.0796	0.19935	0.4735:0.3503:0.1761:0.0	.	200	Q86VQ3	TXND2_HUMAN	K	133;200;200	ENSP00000350419:E133K;ENSP00000304908:E200K	.	E	+	1	0	TXNDC2	9877074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.583000	0.00904	-0.859000	0.04105	-0.300000	0.09419	GAA		0.577	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			5	201	0	0	0	0	5	201				
POTEC	388468	broad.mit.edu	37	18	14537869	14537869	+	Silent	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:14537869G>T	ENST00000358970.5	-	3	740	c.741C>A	c.(739-741)gtC>gtA	p.V247V	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	247										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTTCATTGTGGACAGCATAGT	0.353																																						uc010dln.2		NA																	0				skin(3)	3						c.(739-741)GTC>GTA		ANKRD26-like family B, member 2							383.0	290.0	318.0					18																	14537869		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14537869G>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.741C>A	18.37:g.14537869G>T						POTEC_uc010xaj.1_RNA	p.V247V	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			3	1195	-			247			ANK 4.			Silent	SNP	ENST00000358970.5	37	c.741C>A	CCDS45835.1																																																																																				0.353	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		40	82	1	0	4.34e-07	9.18e-07	40	82				
TAF4B	6875	broad.mit.edu	37	18	23845146	23845146	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:23845146T>A	ENST00000269142.5	+	2	1354	c.356T>A	c.(355-357)aTt>aAt	p.I119N	RP11-25D3.1_ENST00000580975.1_RNA|TAF4B_ENST00000578121.1_Missense_Mutation_p.I119N|TAF4B_ENST00000400466.2_Missense_Mutation_p.I119N	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	119					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACCGTTTTGATTAAAAGTAAC	0.393																																						uc002kvu.3		NA																	0				lung(1)|central_nervous_system(1)|skin(1)	3						c.(355-357)ATT>AAT		TAF4b RNA polymerase II, TATA box binding							118.0	119.0	119.0					18																	23845146		1849	4095	5944	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23845146T>A	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.356T>A	18.37:g.23845146T>A	ENSP00000269142:p.Ile119Asn					TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.I119N	p.I119N	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		2	845	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		119					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.356T>A	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	T	9.574	1.121810	0.20877	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.35605	1.3;1.38;1.3	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	L	0.55481	1.735	0.47407	D	0.999419	D;D	0.76494	0.998;0.999	D;D	0.75484	0.986;0.96	T	0.56878	-0.7906	10	0.66056	D	0.02	-12.4027	13.6627	0.62376	0.0:0.0:0.0:1.0	.	119;119	Q92750;A4PBF7	TAF4B_HUMAN;.	N	119	ENSP00000389365:I119N;ENSP00000269142:I119N;ENSP00000383314:I119N	ENSP00000269142:I119N	I	+	2	0	TAF4B	22099144	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	5.590000	0.67530	2.023000	0.59567	0.460000	0.39030	ATT		0.393	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		15	116	0	0	0	0	15	116				
KLHL14	57565	broad.mit.edu	37	18	30350279	30350279	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:30350279C>T	ENST00000359358.4	-	2	714	c.276G>A	c.(274-276)ccG>ccA	p.P92P	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Silent_p.P92P	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	92	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						gctgctgtgacggctgctgct	0.726																																						uc002kxm.1		NA																	0				ovary(1)	1						c.(274-276)CCG>CCA		kelch-like 14							11.0	16.0	14.0					18																	30350279		2078	4127	6205	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350279C>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.276G>A	18.37:g.30350279C>T							p.P92P	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			2	664	-			92			BTB.		A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.276G>A	CCDS32813.1																																																																																				0.726	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			8	27	0	0	0	0	8	27				
DCC	1630	broad.mit.edu	37	18	50929242	50929242	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:50929242G>A	ENST00000442544.2	+	19	3530	c.2914G>A	c.(2914-2916)Gaa>Aaa	p.E972K	DCC_ENST00000412726.1_Missense_Mutation_p.E800K|DCC_ENST00000581580.1_Missense_Mutation_p.E607K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	972	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCTCCCTTGGAAGCCAATGG	0.532																																						uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(2914-2916)GAA>AAA		netrin receptor DCC precursor							173.0	152.0	159.0					18																	50929242		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50929242G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2914G>A	18.37:g.50929242G>A	ENSP00000389140:p.Glu972Lys					DCC_uc010xdr.1_Missense_Mutation_p.E800K|DCC_uc010dpf.1_Missense_Mutation_p.E607K	p.E972K	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	19	3501	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	972			Extracellular (Potential).|Fibronectin type-III 6.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2914G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775896	0.70107	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.57273	0.41;0.41	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69151	0.3079	L	0.52126	1.63	0.80722	D	1	D;D;D	0.71674	0.964;0.964;0.998	P;P;D	0.72075	0.794;0.794;0.976	T	0.67749	-0.5590	10	0.59425	D	0.04	.	19.3283	0.94273	0.0:0.0:1.0:0.0	.	800;800;972	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	K	972;800	ENSP00000389140:E972K;ENSP00000397322:E800K	ENSP00000397322:E800K	E	+	1	0	DCC	49183240	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.683000	0.98657	2.861000	0.98227	0.655000	0.94253	GAA		0.532	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		5	151	0	0	0	0	5	151				
DOK6	220164	broad.mit.edu	37	18	67425109	67425109	+	Splice_Site	SNP	G	G	T	rs563183019		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:67425109G>T	ENST00000382713.5	+	7	1046	c.856G>T	c.(856-858)Ggt>Tgt	p.G286C		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	286										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAGTTTGCAAGGCAAGTCACT	0.438																																						uc002lkl.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(856-858)GGT>TGT		docking protein 6							108.0	91.0	97.0					18																	67425109		2203	4300	6503	SO:0001630	splice_region_variant	220164						insulin receptor binding	g.chr18:67425109G>T	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.856+1G>T	18.37:g.67425109G>T							p.G286C	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			7	1046	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	286					A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.856G>T	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388140	0.82902	.	.	ENSG00000206052	ENST00000382713	D	0.83250	-1.7	5.34	5.34	0.76211	.	0.172164	0.51477	D	0.000099	D	0.86226	0.5882	L	0.27053	0.805	0.58432	D	0.999998	D	0.89917	1.0	D	0.72075	0.976	D	0.87366	0.2347	10	0.59425	D	0.04	-25.0818	18.4033	0.90525	0.0:0.0:1.0:0.0	.	286	Q6PKX4	DOK6_HUMAN	C	286	ENSP00000372160:G286C	ENSP00000372160:G286C	G	+	1	0	DOK6	65576089	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.786000	0.85741	2.681000	0.91329	0.561000	0.74099	GGT		0.438	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721	Missense_Mutation	5	46	1	0	0.00116845	0.00236123	5	46				
HMHA1	23526	broad.mit.edu	37	19	1080465	1080465	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:1080465G>A	ENST00000313093.2	+	15	2062	c.1831G>A	c.(1831-1833)Ggg>Agg	p.G611R	HMHA1_ENST00000539243.2_Missense_Mutation_p.G627R|HMHA1_ENST00000586866.1_Missense_Mutation_p.G615R|HMHA1_ENST00000590577.1_Missense_Mutation_p.G246R|HMHA1_ENST00000543365.1_Missense_Mutation_p.G494R|HMHA1_ENST00000536472.1_Missense_Mutation_p.G479R|HMHA1_ENST00000590214.1_Missense_Mutation_p.G638R	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	611					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		TTCTCCAGCCGGGCGAGGACA	0.692																																						uc002lqz.1		NA																	0				lung(1)	1						c.(1831-1833)GGG>AGG		minor histocompatibility antigen HA-1							40.0	46.0	44.0					19																	1080465		2203	4298	6501	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080465G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1831G>A	19.37:g.1080465G>A	ENSP00000316772:p.Gly611Arg					HMHA1_uc010xgd.1_Missense_Mutation_p.G627R|HMHA1_uc010xge.1_Missense_Mutation_p.G479R|HMHA1_uc002lra.1_Missense_Mutation_p.G451R|HMHA1_uc002lrb.1_Missense_Mutation_p.G494R|HMHA1_uc002lrc.1_Missense_Mutation_p.G246R|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	p.G611R	NM_012292	NP_036424	Q92619	HMHA1_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)	15	2062	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	611					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.1831G>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545453	0.27652	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.26067	1.99;2.02;1.76;1.96	4.17	3.11	0.35812	.	0.468479	0.20837	U	0.084761	T	0.21761	0.0524	M	0.72894	2.215	0.09310	N	1	P;P;P;P;P	0.42375	0.778;0.733;0.597;0.545;0.74	B;B;B;B;B	0.33196	0.159;0.09;0.047;0.057;0.047	T	0.17776	-1.0358	10	0.16420	T	0.52	-23.2438	10.9031	0.47065	0.0979:0.0:0.9021:0.0	.	479;627;246;494;611	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	R	627;611;611;479;605;494	ENSP00000439601:G627R;ENSP00000316772:G611R;ENSP00000445109:G479R;ENSP00000438979:G494R	ENSP00000316772:G611R	G	+	1	0	HMHA1	1031465	0.665000	0.27466	0.400000	0.26346	0.147000	0.21601	2.853000	0.48317	1.885000	0.54596	0.555000	0.69702	GGG		0.692	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			11	57	0	0	0	0	11	57				
MUC16	94025	broad.mit.edu	37	19	9085508	9085508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:9085508G>A	ENST00000397910.4	-	1	6510	c.6307C>T	c.(6307-6309)Caa>Taa	p.Q2103*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2103	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						GGATTTCTTTGCTTAGCAGCA	0.488																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6307-6309)CAA>TAA		mucin 16							166.0	160.0	162.0					19																	9085508		1919	4122	6041	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085508G>A	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.6307C>T	19.37:g.9085508G>A	ENSP00000381008:p.Gln2103*						p.Q2103*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6511	-			2103			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.6307C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	45	12.054945	0.99631	.	.	ENSG00000181143	ENST00000397910	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	2103	.	ENSP00000381008:Q2103X	Q	-	1	0	MUC16	8946508	0.000000	0.05858	0.055000	0.19348	0.056000	0.15407	-0.321000	0.08018	0.308000	0.22923	0.313000	0.20887	CAA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	218	0	0	0	0	24	218				
RDH8	50700	broad.mit.edu	37	19	10129435	10129435	+	Silent	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:10129435G>T	ENST00000171214.1	+	3	540	c.291G>T	c.(289-291)ggG>ggT	p.G97G	RDH8_ENST00000591589.1_Silent_p.G117G	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	97					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GCCTGGTGGGGCCCCTGGAGG	0.507																																						uc002mmr.2		NA																	0				ovary(3)|pancreas(1)	4						c.(289-291)GGG>GGT		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						97.0	102.0	100.0					19																	10129435		2203	4300	6503	SO:0001819	synonymous_variant	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10129435G>T	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.291G>T	19.37:g.10129435G>T							p.G97G	NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		3	540	+			97			Helical; (Potential).		Q9H838	Silent	SNP	ENST00000171214.1	37	c.291G>T																																																																																					0.507	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				23	138	1	0	1.11e-12	2.42e-12	23	138				
MAN2B1	4125	broad.mit.edu	37	19	12763060	12763060	+	Silent	SNP	G	G	A	rs547133035	byFrequency	TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:12763060G>A	ENST00000456935.2	-	16	1993	c.1953C>T	c.(1951-1953)aaC>aaT	p.N651N	MAN2B1_ENST00000221363.4_Silent_p.N650N	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	651					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGTCACTTTCGTTGTCACCTA	0.602													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16385	0.0		0.0	False		,,,				2504	0.001					uc002mub.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(1951-1953)AAC>AAT		mannosidase, alpha, class 2B, member 1							143.0	111.0	122.0					19																	12763060		2203	4300	6503	SO:0001819	synonymous_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12763060G>A		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1953C>T	19.37:g.12763060G>A						MAN2B1_uc010dyv.1_Silent_p.N650N	p.N651N	NM_000528	NP_000519	O00754	MA2B1_HUMAN			16	2029	-			651					G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	c.1953C>T	CCDS32919.1																																																																																				0.602	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			22	94	0	0	0	0	22	94				
ZNF101	94039	broad.mit.edu	37	19	19790618	19790618	+	Silent	SNP	A	A	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:19790618A>C	ENST00000592502.1	+	4	930	c.820A>C	c.(820-822)Aga>Cga	p.R274R	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Silent_p.R154R			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	274					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(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						ACATGAAATCAGATCTCACGC	0.423																																						uc002nni.1		NA																	0				ovary(2)	2						c.(820-822)AGA>CGA		zinc finger protein 101							48.0	46.0	47.0					19																	19790618		2203	4300	6503	SO:0001819	synonymous_variant	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790618A>C	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.820A>C	19.37:g.19790618A>C						ZNF101_uc010ecg.1_Silent_p.R154R|ZNF101_uc002nnj.1_Silent_p.R154R	p.R274R	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN			4	930	+			274			C2H2-type 5.		C9JU83|Q0VDG9	Silent	SNP	ENST00000592502.1	37	c.820A>C	CCDS32971.1																																																																																				0.423	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		4	35	0	0	0	0	4	35				
ZNF14	7561	broad.mit.edu	37	19	19822565	19822565	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:19822565C>T	ENST00000344099.3	-	4	1663	c.1525G>A	c.(1525-1527)Ggt>Agt	p.G509S		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AAGGTTTTACCGCATAGTTTA	0.393																																						uc002nnk.1		NA																	0				ovary(3)	3						c.(1525-1527)GGT>AGT		zinc finger protein 14							98.0	97.0	98.0					19																	19822565		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19822565C>T	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1525G>A	19.37:g.19822565C>T	ENSP00000340514:p.Gly509Ser						p.G509S	NM_021030	NP_066358	P17017	ZNF14_HUMAN			4	1679	-		Renal(1328;0.0474)	509			C2H2-type 15.		B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.1525G>A	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798099	0.50208	.	.	ENSG00000105708	ENST00000344099	T	0.07114	3.22	1.8	-0.674	0.11369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16428	0.0395	L	0.45051	1.395	0.23070	N	0.998341	D	0.89917	1.0	D	0.85130	0.997	T	0.14200	-1.0481	9	0.66056	D	0.02	.	5.551	0.17091	0.0:0.6638:0.0:0.3362	.	509	P17017	ZNF14_HUMAN	S	509	ENSP00000340514:G509S	ENSP00000340514:G509S	G	-	1	0	ZNF14	19683565	0.054000	0.20591	0.000000	0.03702	0.129000	0.20672	1.419000	0.34793	-0.298000	0.08921	-0.363000	0.07495	GGT		0.393	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		18	122	0	0	0	0	18	122				
ZNF99	7652	broad.mit.edu	37	19	22941431	22941431	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:22941431C>A	ENST00000596209.1	-	4	1370	c.1280G>T	c.(1279-1281)tGt>tTt	p.C427F	ZNF99_ENST00000397104.3_Missense_Mutation_p.C336F	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	427					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(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTCTTCACATTTGCAGGG	0.373																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(1006-1008)TGT>TTT		zinc finger protein 99							50.0	51.0	50.0					19																	22941431		2018	4202	6220	SO:0001583	missense	7652							g.chr19:22941431C>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1280G>T	19.37:g.22941431C>A	ENSP00000472969:p.Cys427Phe						p.C336F	NM_001080409	NP_001073878					5	1007	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1007G>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	13.07	2.127474	0.37533	.	.	ENSG00000213973	ENST00000397104	T	0.36157	1.27	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52025	0.1709	H	0.96489	3.83	0.39836	D	0.973031	P	0.42827	0.791	B	0.43413	0.419	T	0.62760	-0.6786	9	0.87932	D	0	.	7.5823	0.27972	0.0:1.0:0.0:0.0	.	336	A8MXY4	ZNF99_HUMAN	F	336	ENSP00000380293:C336F	ENSP00000380293:C336F	C	-	2	0	ZNF99	22733271	0.728000	0.28080	0.011000	0.14972	0.048000	0.14542	3.402000	0.52608	0.675000	0.31264	0.395000	0.25975	TGT		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		29	65	1	0	1.75e-13	3.85e-13	29	65				
WDR62	284403	broad.mit.edu	37	19	36572390	36572390	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:36572390C>T	ENST00000270301.7	+	10	1289	c.1289C>T	c.(1288-1290)aCt>aTt	p.T430I	WDR62_ENST00000401500.2_Missense_Mutation_p.T430I|WDR62_ENST00000388999.3_Missense_Mutation_p.T430I			O43379	WDR62_HUMAN	WD repeat domain 62	430					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCTTTCTGACTTGTTCTTCA	0.468																																						uc002odc.2		NA																	0					0						c.(1288-1290)ACT>ATT		WD repeat domain 62 isoform 2							222.0	203.0	210.0					19																	36572390		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36572390C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1289C>T	19.37:g.36572390C>T	ENSP00000270301:p.Thr430Ile					WDR62_uc002odd.2_Missense_Mutation_p.T430I	p.T430I	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		10	1380	+	Esophageal squamous(110;0.162)		430			WD 6.		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.1289C>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395238	0.83011	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000270301	T;T;T	0.67523	-0.27;-0.27;-0.27	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (2);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.051466	0.85682	D	0.000000	D	0.83562	0.5281	M	0.85859	2.78	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.86368	0.1721	10	0.87932	D	0	-17.539	16.3039	0.82841	0.0:1.0:0.0:0.0	.	430;430	O43379-4;O43379	.;WDR62_HUMAN	I	430	ENSP00000384792:T430I;ENSP00000373651:T430I;ENSP00000270301:T430I	ENSP00000270301:T430I	T	+	2	0	WDR62	41264230	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.574000	0.60900	2.462000	0.83206	0.655000	0.94253	ACT		0.468	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		15	115	0	0	0	0	15	115				
CLASRP	11129	broad.mit.edu	37	19	45556084	45556084	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:45556084A>G	ENST00000221455.3	+	4	331	c.233A>G	c.(232-234)gAc>gGc	p.D78G	CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000544944.2_Missense_Mutation_p.D78G	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	78					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AACATGATTGACCGATTCGAT	0.602																																						uc002pak.2		NA																	0					0						c.(232-234)GAC>GGC		splicing factor, arginine/serine-rich 16							178.0	135.0	149.0					19																	45556084		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45556084A>G	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.233A>G	19.37:g.45556084A>G	ENSP00000221455:p.Asp78Gly					SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Intron|SFRS16_uc002pam.2_Missense_Mutation_p.D78G|SFRS16_uc002pan.1_RNA	p.D78G	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	4	331	+		Ovarian(192;0.0728)|all_neural(266;0.112)	78					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.233A>G	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107655	0.77096	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000544944	T;T;T	0.63096	-0.02;-0.02;-0.02	4.37	4.37	0.52481	Splicing factor, suppressor of white apricot (1);	0.000000	0.37857	U	0.001904	T	0.80742	0.4681	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84284	0.0496	10	0.87932	D	0	-30.1852	11.858	0.52449	1.0:0.0:0.0:0.0	.	78;78	F5H0Q6;Q8N2M8	.;CLASR_HUMAN	G	78	ENSP00000221455:D78G;ENSP00000375814:D78G;ENSP00000438702:D78G	ENSP00000221455:D78G	D	+	2	0	CLASRP	50247924	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	8.676000	0.91199	1.970000	0.57323	0.482000	0.46254	GAC		0.602	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		17	43	0	0	0	0	17	43				
TMC4	147798	broad.mit.edu	37	19	54666830	54666830	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:54666830G>A	ENST00000376591.4	-	9	1489	c.1358C>T	c.(1357-1359)aCt>aTt	p.T453I	TMC4_ENST00000416963.1_Missense_Mutation_p.T35I|TMC4_ENST00000301187.4_Missense_Mutation_p.T447I|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	453					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCCCACAAGTGATCTGATT	0.582																																						uc010erf.2		NA																	0				pancreas(1)	1						c.(1357-1359)ACT>ATT		transmembrane channel-like 4 isoform 1							92.0	85.0	87.0					19																	54666830		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54666830G>A	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1358C>T	19.37:g.54666830G>A	ENSP00000365776:p.Thr453Ile					TMC4_uc002qdn.2_Missense_Mutation_p.T167I|TMC4_uc002qdo.2_Missense_Mutation_p.T447I	p.T453I	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			9	1490	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		453			Cytoplasmic (Potential).		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.1358C>T	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617994	0.66787	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.61158	0.13;0.13;0.13	5.17	5.17	0.71159	.	.	.	.	.	T	0.77412	0.4126	M	0.83953	2.67	0.58432	D	0.999999	D;P;D	0.71674	0.998;0.907;0.991	P;P;D	0.66602	0.896;0.481;0.945	T	0.80487	-0.1361	9	0.62326	D	0.03	-13.3273	17.8783	0.88831	0.0:0.0:1.0:0.0	.	453;447;35	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	I	447;35;453	ENSP00000301187:T447I;ENSP00000405023:T35I;ENSP00000365776:T453I	ENSP00000301187:T447I	T	-	2	0	TMC4	59358642	1.000000	0.71417	0.969000	0.41365	0.773000	0.43773	7.642000	0.83385	2.597000	0.87782	0.556000	0.70494	ACT		0.582	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			25	48	0	0	0	0	25	48				
ZIM3	114026	broad.mit.edu	37	19	57648260	57648260	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:57648260C>T	ENST00000269834.1	-	4	607	c.222G>A	c.(220-222)gtG>gtA	p.V74V	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACTTCCCAGCACTTCCTCTT	0.517																																						uc002qnz.1		NA																	0				pancreas(1)|skin(1)	2						c.(220-222)GTG>GTA		zinc finger, imprinted 3							277.0	185.0	216.0					19																	57648260		2203	4300	6503	SO:0001819	synonymous_variant	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57648260C>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.222G>A	19.37:g.57648260C>T							p.V74V	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	608	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	74			KRAB.		Q14CA6	Silent	SNP	ENST00000269834.1	37	c.222G>A	CCDS33125.1																																																																																				0.517	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			13	81	0	0	0	0	13	81				
PSD4	23550	broad.mit.edu	37	2	113949982	113949982	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:113949982T>A	ENST00000245796.6	+	6	1849	c.1654T>A	c.(1654-1656)Tct>Act	p.S552T	PSD4_ENST00000441564.3_Missense_Mutation_p.S524T	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	552	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCGATGAACTCTTCTTGGCT	0.547																																						uc002tjc.2		NA																	0				ovary(2)	2						c.(1654-1656)TCT>ACT		pleckstrin and Sec7 domain containing 4							188.0	193.0	191.0					2																	113949982		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113949982T>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1654T>A	2.37:g.113949982T>A	ENSP00000245796:p.Ser552Thr					PSD4_uc002tjd.2_Missense_Mutation_p.S173T|PSD4_uc002tje.2_Missense_Mutation_p.S523T|PSD4_uc002tjf.2_Missense_Mutation_p.S173T	p.S552T	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			6	1837	+			552			SEC7.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1654T>A	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	t	12.03	1.815027	0.32053	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.10960	2.82;2.9	5.51	1.75	0.24633	.	0.590962	0.15539	N	0.257041	T	0.04137	0.0115	N	0.08118	0	0.09310	N	0.999999	B;P;P	0.45827	0.18;0.867;0.791	B;B;B	0.39027	0.047;0.288;0.15	T	0.34030	-0.9845	10	0.09843	T	0.71	.	7.5672	0.27885	0.0:0.2579:0.0:0.7421	.	210;524;552	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	T	552;524	ENSP00000245796:S552T;ENSP00000413997:S524T	ENSP00000245796:S552T	S	+	1	0	PSD4	113666453	0.143000	0.22626	0.002000	0.10522	0.030000	0.12068	0.596000	0.24044	0.403000	0.25479	-0.386000	0.06593	TCT		0.547	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		84	146	0	0	0	0	84	146				
TTN	7273	broad.mit.edu	37	2	179472661	179472661	+	Missense_Mutation	SNP	C	C	T	rs371538664		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:179472661C>T	ENST00000591111.1	-	226	48154	c.47930G>A	c.(47929-47931)cGc>cAc	p.R15977H	TTN_ENST00000589042.1_Missense_Mutation_p.R17618H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8745H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8678H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15050H|TTN_ENST00000460472.2_Missense_Mutation_p.R8553H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15977	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CTCTGTGCAGCGTGACCATTC	0.478																																						uc010zfg.1		NA																	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.(45148-45150)CGC>CAC		titin isoform N2-A		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4038		0,0,2019	147.0	144.0	145.0		25658,45149,26033,26234	6.1	1.0	2		145	2,8362		0,2,4180	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,2,6199	TT,TC,CC		0.0239,0.0,0.0161	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8553/26927,15050/33424,8678/27052,8745/27119	179472661	2,12400	2019	4182	6201	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179472661C>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.47930G>A	2.37:g.179472661C>T	ENSP00000465570:p.Arg15977His					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R8745H|TTN_uc010zfi.1_Missense_Mutation_p.R8678H|TTN_uc010zfj.1_Missense_Mutation_p.R8553H	p.R15050H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		225	45373	-			15977					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.45149G>A		.	.	.	.	.	.	.	.	.	.	C	15.93	2.979074	0.53827	0.0	2.39E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	6.05	6.05	0.98169	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75110	0.3805	M	0.75615	2.305	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	T	0.75548	-0.3279	9	0.87932	D	0	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	8553;8678;8745;15977	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15050;8553;8745;8678;8553	ENSP00000343764:R15050H;ENSP00000434586:R8553H;ENSP00000340554:R8745H;ENSP00000352154:R8678H	ENSP00000340554:R8745H	R	-	2	0	TTN	179180906	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.767000	0.85331	2.866000	0.98385	0.650000	0.86243	CGC		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	103	0	0	0	0	34	103				
CASP8	841	broad.mit.edu	37	2	202131228	202131228	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:202131228C>G	ENST00000432109.2	+	3	208	c.19C>G	c.(19-21)Ctt>Gtt	p.L7V	CASP8_ENST00000392259.2_Missense_Mutation_p.L7V|CASP8_ENST00000392258.3_Missense_Mutation_p.L7V|CASP8_ENST00000264275.5_Missense_Mutation_p.L7V|CASP8_ENST00000264274.9_Missense_Mutation_p.L7V|CASP8_ENST00000358485.4_Missense_Mutation_p.L66V|CASP8_ENST00000392266.3_Missense_Mutation_p.L7V|CASP8_ENST00000323492.7_Missense_Mutation_p.L7V	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	7	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAGCAGAAATCTTTATGATAT	0.408										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(19-21)CTT>GTT		caspase 8 isoform B precursor							61.0	66.0	64.0					2																	202131228		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202131228C>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.19C>G	2.37:g.202131228C>G	ENSP00000412523:p.Leu7Val	HNSCC(4;0.00038)				CASP8_uc010ftc.1_Missense_Mutation_p.L7V|CASP8_uc002uxo.1_Missense_Mutation_p.L7V|CASP8_uc002uxp.1_Missense_Mutation_p.L7V|CASP8_uc002uxq.1_Missense_Mutation_p.L7V|CASP8_uc002uxs.1_Missense_Mutation_p.L7V|CASP8_uc002uxt.1_Missense_Mutation_p.L66V|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.L7V|CASP8_uc002uxw.1_Missense_Mutation_p.L7V|CASP8_uc002uxy.1_Missense_Mutation_p.L7V|CASP8_uc002uxx.1_Missense_Mutation_p.L7V|CASP8_uc010ftf.2_Missense_Mutation_p.L7V	p.L7V	NM_033355	NP_203519	Q14790	CASP8_HUMAN			3	228	+			7			DED 1.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.19C>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372348	0.61624	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	5.46	5.46	0.80206	DEATH-like (2);Death effector (3);	0.336378	0.27778	N	0.017893	D	0.96833	0.8966	H	0.94582	3.555	0.33768	D	0.622657	D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.996;1.0;1.0;1.0;0.988;0.999;0.998;0.988;0.999	D	0.99955	1.1609	10	0.72032	D	0.01	.	18.2938	0.90138	0.0:1.0:0.0:0.0	.	7;7;7;7;66;7;7;7;7	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	V	7;7;7;7;7;7;7;7;7;66;7;7;7;7	ENSP00000376091:L7V;ENSP00000264274:L7V;ENSP00000376088:L7V;ENSP00000376094:L7V;ENSP00000412523:L7V;ENSP00000264275:L7V;ENSP00000396869:L7V;ENSP00000376087:L7V;ENSP00000388306:L7V;ENSP00000351273:L66V;ENSP00000397528:L7V;ENSP00000325722:L7V;ENSP00000390641:L7V	ENSP00000264274:L7V	L	+	1	0	CASP8	201839473	0.997000	0.39634	0.065000	0.19835	0.002000	0.02628	4.166000	0.58203	2.532000	0.85374	0.655000	0.94253	CTT		0.408	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		16	43	0	0	0	0	16	43				
ALS2	57679	broad.mit.edu	37	2	202625656	202625656	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:202625656T>A	ENST00000264276.6	-	4	1433	c.1061A>T	c.(1060-1062)gAt>gTt	p.D354V	ALS2_ENST00000467448.1_Missense_Mutation_p.D354V|ALS2_ENST00000496244.1_5'Flank	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	354					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TACTGAATGATCTGACAGTTT	0.413																																						uc002uyo.2		NA																	0				skin(5)|lung(1)|breast(1)	7						c.(1060-1062)GAT>GTT		alsin isoform 1							135.0	127.0	130.0					2																	202625656		1973	4167	6140	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202625656T>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1061A>T	2.37:g.202625656T>A	ENSP00000264276:p.Asp354Val					ALS2_uc002uyp.3_Missense_Mutation_p.D354V|ALS2_uc002uyq.2_Missense_Mutation_p.D354V|ALS2_uc002uyr.2_Missense_Mutation_p.D354V	p.D354V	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			4	1417	-			354					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.1061A>T	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725265	0.68959	.	.	ENSG00000003393	ENST00000264276;ENST00000467448	T;T	0.57436	0.4;0.59	6.16	2.45	0.29901	.	0.652062	0.16683	N	0.203868	T	0.53769	0.1817	L	0.59436	1.845	0.80722	D	1	D;P;P;B	0.56746	0.977;0.785;0.52;0.236	P;P;B;B	0.51016	0.656;0.463;0.221;0.063	T	0.51694	-0.8673	10	0.87932	D	0	.	6.022	0.19634	0.0:0.139:0.1383:0.7227	.	354;354;354;354	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	V	354	ENSP00000264276:D354V;ENSP00000429223:D354V	ENSP00000264276:D354V	D	-	2	0	ALS2	202333901	0.998000	0.40836	0.269000	0.24586	0.827000	0.46813	2.199000	0.42715	0.187000	0.20147	0.528000	0.53228	GAT		0.413	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		17	74	0	0	0	0	17	74				
ERBB4	2066	broad.mit.edu	37	2	212488657	212488657	+	Missense_Mutation	SNP	G	G	A	rs374970657		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:212488657G>A	ENST00000342788.4	-	18	2502	c.2192C>T	c.(2191-2193)aCg>aTg	p.T731M	ERBB4_ENST00000436443.1_Missense_Mutation_p.T731M|ERBB4_ENST00000402597.1_Missense_Mutation_p.T721M	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	731	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TTTATAAACCGTTCCAAAAGC	0.363										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(2191-2193)ACG>ATG		v-erb-a erythroblastic leukemia viral oncogene		G	MET/THR,MET/THR	0,4406		0,0,2203	86.0	84.0	84.0		2192,2192	5.7	1.0	2		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ERBB4	NM_001042599.1,NM_005235.2	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	731/1293,731/1309	212488657	1,13005	2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212488657G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2192C>T	2.37:g.212488657G>A	ENSP00000342235:p.Thr731Met	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.T731M|ERBB4_uc010zji.1_Missense_Mutation_p.T721M|ERBB4_uc010zjj.1_Missense_Mutation_p.T721M|ERBB4_uc010fut.1_Missense_Mutation_p.T731M	p.T731M	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	18	2290	-		Renal(323;0.06)|Lung NSC(271;0.197)	731			ATP (By similarity).|Protein kinase.|Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2192C>T	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.974751|3.974751	0.74360|0.74360	0.0|0.0	1.16E-4|1.16E-4	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|D;D;D	.|0.83163	.|-1.69;-1.69;-1.69	5.74|5.74	5.74|5.74	0.90152|0.90152	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.044581	.|0.85682	.|D	.|0.000000	D|D	0.88403|0.88403	0.6427|0.6427	L|L	0.59967|0.59967	1.855|1.855	0.80722|0.80722	D|D	1|1	.|P;D;P;P	.|0.76494	.|0.907;0.999;0.907;0.939	.|B;P;B;B	.|0.57283	.|0.083;0.817;0.083;0.179	D|D	0.88517|0.88517	0.3093|0.3093	5|10	.|0.62326	.|D	.|0.03	.|.	19.9351|19.9351	0.97137|0.97137	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|721;721;731;731	.|Q15303-4;Q15303-2;Q15303-3;Q15303	.|.;.;.;ERBB4_HUMAN	W|M	721|731;731;721	.|ENSP00000342235:T731M;ENSP00000403204:T731M;ENSP00000385565:T721M	.|ENSP00000342235:T731M	R|T	-|-	1|2	2|0	ERBB4|ERBB4	212196902|212196902	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.659000|0.659000	0.38960|0.38960	6.705000|6.705000	0.74644|0.74644	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.363	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		11	49	0	0	0	0	11	49				
ERBB4	2066	broad.mit.edu	37	2	212568852	212568852	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:212568852G>A	ENST00000342788.4	-	11	1576	c.1266C>T	c.(1264-1266)acC>acT	p.T422T	ERBB4_ENST00000436443.1_Silent_p.T422T|ERBB4_ENST00000402597.1_Silent_p.T422T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	422					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TTCCACCAATGGTCACCAGGT	0.393										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(1264-1266)ACC>ACT		v-erb-a erythroblastic leukemia viral oncogene							121.0	119.0	120.0					2																	212568852		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212568852G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1266C>T	2.37:g.212568852G>A		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Silent_p.T422T|ERBB4_uc010zji.1_Silent_p.T422T|ERBB4_uc010zjj.1_Silent_p.T422T|ERBB4_uc010fut.1_Silent_p.T422T	p.T422T	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	11	1364	-		Renal(323;0.06)|Lung NSC(271;0.197)	422			Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.1266C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	9.533	1.111464	0.20714	.	.	ENSG00000178568	ENST00000260943	.	.	.	6.02	1.99	0.26369	.	.	.	.	.	T	0.46249	0.1383	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26258	-1.0108	4	.	.	.	.	3.9063	0.09183	0.3036:0.0:0.4285:0.2679	.	.	.	.	L	422	.	.	P	-	2	0	ERBB4	212277097	0.939000	0.31865	0.998000	0.56505	0.993000	0.82548	0.078000	0.14761	0.347000	0.23924	-0.127000	0.14921	CCA		0.393	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		21	80	0	0	0	0	21	80				
ASB18	401036	broad.mit.edu	37	2	237172797	237172797	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:237172797G>A	ENST00000409749.3	-	1	191	c.192C>T	c.(190-192)acC>acT	p.T64T	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	64					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GCAGCATGCCGGTGGGCAGCT	0.527																																						uc010znh.1		NA																	0				ovary(1)	1						c.(190-192)ACC>ACT		ankyrin repeat and SOCS box-containing 18							61.0	60.0	60.0					2																	237172797		2020	4189	6209	SO:0001819	synonymous_variant	401036				intracellular signal transduction			g.chr2:237172797G>A	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.192C>T	2.37:g.237172797G>A							p.T64T	NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	1	192	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	64					B6ZDL7	Silent	SNP	ENST00000409749.3	37	c.192C>T	CCDS46548.1																																																																																				0.527	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		4	33	0	0	0	0	4	33				
LBP	3929	broad.mit.edu	37	20	36992665	36992665	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr20:36992665A>T	ENST00000217407.2	+	7	850	c.689A>T	c.(688-690)tAt>tTt	p.Y230F		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	230					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GACATTGATTATAGCTTAGTG	0.557																																						uc002xic.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(688-690)TAT>TTT		lipopolysaccharide-binding protein precursor							85.0	82.0	83.0					20																	36992665		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36992665A>T		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.689A>T	20.37:g.36992665A>T	ENSP00000217407:p.Tyr230Phe						p.Y230F	NM_004139	NP_004130	P18428	LBP_HUMAN			7	724	+		Myeloproliferative disorder(115;0.00878)	230					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.689A>T	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.107659	0.56291	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.07114	3.22	5.2	5.2	0.72013	Lipid-binding serum glycoprotein, N-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.64402	D	0.000004	T	0.27933	0.0688	M	0.86178	2.8	0.38500	D	0.948209	D	0.67145	0.996	P	0.60886	0.88	T	0.11966	-1.0566	10	0.42905	T	0.14	-26.2574	13.0637	0.59022	1.0:0.0:0.0:0.0	.	230	P18428	LBP_HUMAN	F	230	ENSP00000217407:Y230F	ENSP00000217407:Y230F	Y	+	2	0	LBP	36426079	1.000000	0.71417	0.982000	0.44146	0.008000	0.06430	5.002000	0.63952	2.180000	0.69256	0.482000	0.46254	TAT		0.557	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		16	40	0	0	0	0	16	40				
OSER1	51526	broad.mit.edu	37	20	42825851	42825851	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr20:42825851C>T	ENST00000372970.2	-	6	900	c.720G>A	c.(718-720)tcG>tcA	p.S240S	OSER1_ENST00000255174.2_Silent_p.S240S			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	240					cellular response to hydrogen peroxide (GO:0070301)												TGGCGTGCAGCGACTGAGAGT	0.532																																						uc002xlk.2		NA																	0					0						c.(718-720)TCG>TCA		oxidative stress responsive 1							123.0	106.0	112.0					20																	42825851		2203	4300	6503	SO:0001819	synonymous_variant	51526							g.chr20:42825851C>T	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.720G>A	20.37:g.42825851C>T							p.S240S	NM_016470	NP_057554	Q9NX31	CT111_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	857	-		Myeloproliferative disorder(115;0.028)	240					B2RCK4|O95912|Q9NZ84|Q9P0R8	Silent	SNP	ENST00000372970.2	37	c.720G>A	CCDS13327.1																																																																																				0.532	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		8	102	0	0	0	0	8	102				
FOXRED2	80020	broad.mit.edu	37	22	36900343	36900343	+	Missense_Mutation	SNP	G	G	A	rs142793535		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:36900343G>A	ENST00000397224.4	-	4	944	c.851C>T	c.(850-852)aCg>aTg	p.T284M	FOXRED2_ENST00000216187.6_Missense_Mutation_p.T284M|FOXRED2_ENST00000397223.4_Missense_Mutation_p.T284M	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	284					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGCCAGATCCGTCAGGTCAGA	0.562																																						uc003apn.3		NA																	0				lung(1)|kidney(1)	2						c.(850-852)ACG>ATG		FAD-dependent oxidoreductase domain containing 2		A	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	87.0	70.0	75.0		851,851	-1.4	0.0	22	dbSNP_134	75	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	FOXRED2	NM_001102371.1,NM_024955.5	81,81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging	284/685,284/685	36900343	3,13003	2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36900343G>A	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.851C>T	22.37:g.36900343G>A	ENSP00000380401:p.Thr284Met					FOXRED2_uc003apo.3_Missense_Mutation_p.T284M|FOXRED2_uc003app.3_Missense_Mutation_p.T284M	p.T284M	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN			3	959	-			284					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.851C>T	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	g	8.677	0.904268	0.17760	2.27E-4	2.33E-4	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.14022	2.54;2.54;2.54	5.01	-1.4	0.08968	.	0.879450	0.10294	N	0.691965	T	0.10380	0.0254	L	0.36672	1.1	0.09310	N	1	D	0.54397	0.966	B	0.44163	0.443	T	0.17018	-1.0383	10	0.56958	D	0.05	-0.004	3.8157	0.08815	0.0779:0.1604:0.3205:0.4412	.	284	Q8IWF2	FXRD2_HUMAN	M	284	ENSP00000380401:T284M;ENSP00000216187:T284M;ENSP00000380400:T284M	ENSP00000216187:T284M	T	-	2	0	FOXRED2	35230289	0.514000	0.26202	0.002000	0.10522	0.143000	0.21401	0.778000	0.26732	-0.558000	0.06118	-2.212000	0.00299	ACG		0.562	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		24	46	0	0	0	0	24	46				
CBX7	23492	broad.mit.edu	37	22	39529912	39529912	+	Missense_Mutation	SNP	C	C	A	rs200705793		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:39529912C>A	ENST00000216133.5	-	6	945	c.740G>T	c.(739-741)cGc>cTc	p.R247L	CBX7_ENST00000401405.3_Missense_Mutation_p.R154L|CBX7_ENST00000475962.1_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	247					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sebaceous gland development (GO:0048733)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CTTCCCACTGCGGTCTCGGAA	0.577																																					GBM(46;845 904 3560 9866 23971)	uc003axb.2		NA																	0				ovary(1)	1						c.(739-741)CGC>CTC		chromobox homolog 7							78.0	75.0	76.0					22																	39529912		2203	4300	6503	SO:0001583	missense	23492				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex		g.chr22:39529912C>A		CCDS13986.1	22q13.1	2010-07-06			ENSG00000100307	ENSG00000100307			1557	protein-coding gene	gene with protein product		608457					Standard	NM_175709		Approved		uc003axb.3	O95931	OTTHUMG00000150418	ENST00000216133.5:c.740G>T	22.37:g.39529912C>A	ENSP00000216133:p.Arg247Leu					CBX7_uc003axc.2_Missense_Mutation_p.R154L	p.R247L	NM_175709	NP_783640	O95931	CBX7_HUMAN			6	829	-	Melanoma(58;0.04)		247					Q86T17	Missense_Mutation	SNP	ENST00000216133.5	37	c.740G>T	CCDS13986.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030519	0.93575	.	.	ENSG00000100307	ENST00000216133;ENST00000401405	T	0.26660	1.72	5.58	5.58	0.84498	.	0.113388	0.64402	D	0.000006	T	0.36717	0.0977	L	0.49126	1.545	0.34184	D	0.671224	D;D	0.57257	0.958;0.979	P;P	0.49276	0.605;0.605	T	0.49380	-0.8946	10	0.87932	D	0	.	19.5597	0.95367	0.0:1.0:0.0:0.0	.	154;247	B0QYP2;O95931	.;CBX7_HUMAN	L	247;154	ENSP00000216133:R247L	ENSP00000216133:R247L	R	-	2	0	CBX7	37859858	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	4.815000	0.62634	2.641000	0.89580	0.561000	0.74099	CGC		0.577	CBX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318020.1	NM_175709		12	74	1	0	9.31e-06	1.94e-05	12	74				
MKL1	57591	broad.mit.edu	37	22	40815260	40815260	+	Silent	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:40815260A>G	ENST00000355630.3	-	12	1772	c.1182T>C	c.(1180-1182)ccT>ccC	p.P394P	MKL1_ENST00000402042.1_Silent_p.P344P|MKL1_ENST00000407029.1_Silent_p.P394P|MKL1_ENST00000396617.3_Silent_p.P394P	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	394					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						AGGTGGCGGCAGGGGCCTTGG	0.657			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1		NA		Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1180-1182)CCT>CCC		megakaryoblastic leukemia 1 protein							22.0	26.0	25.0					22																	40815260		2200	4300	6500	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40815260A>G	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1182T>C	22.37:g.40815260A>G						MKL1_uc003ayw.1_Silent_p.P394P|MKL1_uc010gye.1_Silent_p.P394P|MKL1_uc010gyf.1_Silent_p.P344P	p.P394P	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			9	1389	-			394					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.1182T>C	CCDS14003.1																																																																																				0.657	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		6	16	0	0	0	0	6	16				
IL17REL	400935	broad.mit.edu	37	22	50439548	50439548	+	Silent	SNP	C	C	T	rs374166463		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:50439548C>T	ENST00000389983.2	-	4	336	c.72G>A	c.(70-72)gcG>gcA	p.A24A	IL17REL_ENST00000341280.5_Silent_p.A24A	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	24										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGAGCATCGCGCAGCCGT	0.662																																						uc003bje.1		NA																	0				pancreas(1)	1						c.(70-72)GCG>GCA		interleukin 17 receptor E-like				1,4385		0,1,2192	40.0	32.0	35.0		72	-6.3	0.0	22		35	0,8588		0,0,4294	no	coding-synonymous	IL17REL	NM_001001694.2		0,1,6486	TT,TC,CC		0.0,0.0228,0.0077		24/337	50439548	1,12973	2193	4294	6487	SO:0001819	synonymous_variant	400935							g.chr22:50439548C>T	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.72G>A	22.37:g.50439548C>T							p.A24A	NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	4	304	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	24					A6NCN4|A6PVC1	Silent	SNP	ENST00000389983.2	37	c.72G>A	CCDS33679.1																																																																																				0.662	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		6	11	0	0	0	0	6	11				
LMF2	91289	broad.mit.edu	37	22	50943500	50943500	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:50943500A>G	ENST00000474879.2	-	9	1255	c.1240T>C	c.(1240-1242)Ttc>Ctc	p.F414L	LMF2_ENST00000216080.5_Missense_Mutation_p.F389L|LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000380796.3_Intron	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	414						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTAATCAGGAACAAGGCCACG	0.647																																						uc003blp.2		NA																	0				breast(1)	1						c.(1240-1242)TTC>CTC		lipase maturation factor 2							69.0	67.0	68.0					22																	50943500		2202	4299	6501	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50943500A>G	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1240T>C	22.37:g.50943500A>G	ENSP00000424381:p.Phe414Leu					LMF2_uc010hba.2_Missense_Mutation_p.F236L|LMF2_uc003blo.2_Missense_Mutation_p.F389L	p.F414L	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	9	1271	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	414			Helical; (Potential).		A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.1240T>C	CCDS14093.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.03|18.03	3.531630|3.531630	0.64972|0.64972	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000474879;ENST00000216080|ENST00000487499	T;T|.	0.26373|.	1.74;1.75|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58352|0.58352	0.2116|0.2116	L|L	0.46567|0.46567	1.45|1.45	0.80722|0.80722	D|D	1|1	P;D|.	0.57571|.	0.837;0.98|.	P;P|.	0.61201|.	0.721;0.885|.	T|T	0.56257|0.56257	-0.8009|-0.8009	10|5	0.87932|.	D|.	0|.	-1.1892|-1.1892	10.821|10.821	0.46604|0.46604	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	414;389|.	Q9BU23;Q9BU23-2|.	LMF2_HUMAN;.|.	L|A	414;389|420	ENSP00000424381:F414L;ENSP00000216080:F389L|.	ENSP00000216080:F389L|.	F|V	-|-	1|2	0|0	LMF2|LMF2	49290366|49290366	1.000000|1.000000	0.71417|0.71417	0.899000|0.899000	0.35326|0.35326	0.037000|0.037000	0.13140|0.13140	5.649000|5.649000	0.67936|0.67936	1.809000|1.809000	0.52856|0.52856	0.533000|0.533000	0.62120|0.62120	TTC|GTT		0.647	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		12	41	0	0	0	0	12	41				
SETMAR	6419	broad.mit.edu	37	3	4355272	4355272	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:4355272C>G	ENST00000358065.4	+	2	914	c.847C>G	c.(847-849)Cta>Gta	p.L283V	SETMAR_ENST00000425863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.L283V|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	283	Histone-lysine N-methyltransferase.|Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TCATGGGAAACTAAGGAAACC	0.403								Chromatin Structure																														uc011asp.1		NA																	0				ovary(1)	1						c.(847-849)CTA>GTA	Chromatin_Structure|Direct_reversal_of_damage	SET domain and mariner transposase fusion							97.0	92.0	94.0					3																	4355272		2203	4300	6503	SO:0001583	missense	6419				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	g.chr3:4355272C>G	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.847C>G	3.37:g.4355272C>G	ENSP00000373354:p.Leu283Val					SUMF1_uc003bps.1_Intron|SETMAR_uc003bpw.3_Missense_Mutation_p.L270V|SETMAR_uc003bpy.3_Intron|SETMAR_uc011asq.1_Intron|SETMAR_uc011asr.1_Intron|SETMAR_uc010hbx.2_Missense_Mutation_p.L78V	p.L283V	NM_006515	NP_006506	Q53H47	SETMR_HUMAN		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)	2	914	+		Melanoma(143;0.0657)	270			Post-SET.|Histone-lysine N-methyltransferase.		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	ENST00000358065.4	37	c.847C>G	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	C	8.236	0.805693	0.16467	.	.	ENSG00000170364	ENST00000358065;ENST00000430981	D;D	0.95001	-3.57;-3.58	5.05	-2.86	0.05717	Post-SET domain (2);	.	.	.	.	D	0.88213	0.6376	L	0.54323	1.7	0.09310	N	1	B;B	0.14438	0.01;0.0	B;B	0.18263	0.021;0.001	T	0.72962	-0.4132	9	0.10902	T	0.67	.	1.8151	0.03099	0.1916:0.2459:0.3573:0.2052	.	270;283	Q53H47;C9JHK2	SETMR_HUMAN;.	V	283	ENSP00000373354:L283V;ENSP00000403000:L283V	ENSP00000373354:L283V	L	+	1	2	SETMAR	4330272	0.000000	0.05858	0.000000	0.03702	0.768000	0.43524	-1.161000	0.03144	-0.150000	0.11195	0.563000	0.77884	CTA		0.403	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		10	34	0	0	0	0	10	34				
SLMAP	7871	broad.mit.edu	37	3	57898145	57898145	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:57898145C>T	ENST00000428312.1	+	18	1780	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L	SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000416870.1_Silent_p.L55L|SLMAP_ENST00000295951.3_Silent_p.L545L|SLMAP_ENST00000449503.2_Silent_p.L524L|SLMAP_ENST00000295952.3_Silent_p.L545L|SLMAP_ENST00000495364.1_Silent_p.L96L|SLMAP_ENST00000442599.2_Silent_p.L30L|SLMAP_ENST00000494088.1_Silent_p.L55L			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	562					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CTGAGAATCTCCGGGAGGAGA	0.413																																						uc003dje.1		NA																	0					0						c.(1684-1686)CTC>CTT		sarcolemma associated protein							87.0	88.0	88.0					3																	57898145		2203	4300	6503	SO:0001819	synonymous_variant	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57898145C>T	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1686C>T	3.37:g.57898145C>T						SLMAP_uc003djd.1_Silent_p.L545L|SLMAP_uc003djf.1_Silent_p.L524L|SLMAP_uc003djg.1_Silent_p.L156L|SLMAP_uc011bez.1_Silent_p.L30L|SLMAP_uc011bfa.1_Silent_p.L96L|SLMAP_uc003djh.2_Silent_p.L55L|SLMAP_uc003dji.1_Silent_p.L96L|SLMAP_uc011bfb.1_Silent_p.L96L|SLMAP_uc011bfc.1_Silent_p.L55L	p.L562L	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	18	1891	+			562			Cytoplasmic (Potential).|Potential.		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Silent	SNP	ENST00000428312.1	37	c.1686C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.670|8.670	0.902566|0.902566	0.17760|0.17760	.|.	.|.	ENSG00000163681|ENSG00000163681	ENST00000416658;ENST00000438794|ENST00000417128	.|.	.|.	.|.	5.09|5.09	2.88|2.88	0.33553|0.33553	.|.	.|.	.|.	.|.	.|.	T|T	0.44726|0.44726	0.1307|0.1307	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.36359|0.36359	-0.9751|-0.9751	4|4	.|.	.|.	.|.	-3.1216|-3.1216	2.6945|2.6945	0.05130|0.05130	0.0:0.407:0.2516:0.3413|0.0:0.407:0.2516:0.3413	.|.	.|.	.|.	.|.	S|F	170;100|146	.|.	.|.	P|S	+|+	1|2	0|0	SLMAP|SLMAP	57873185|57873185	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	0.623000|0.623000	0.24447|0.24447	1.282000|1.282000	0.44496|0.44496	0.491000|0.491000	0.48974|0.48974	CCG|TCC		0.413	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		11	56	0	0	0	0	11	56				
OR5H14	403273	broad.mit.edu	37	3	97868899	97868899	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:97868899A>C	ENST00000437310.1	+	1	730	c.670A>C	c.(670-672)Aca>Cca	p.T224P	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	224						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(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTCCTCTATACAATCTTGAA	0.358																																						uc003dsg.1		NA																	0				skin(1)	1						c.(670-672)ACA>CCA		olfactory receptor, family 5, subfamily H,							51.0	52.0	51.0					3																	97868899		2203	4297	6500	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868899A>C		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.670A>C	3.37:g.97868899A>C	ENSP00000401706:p.Thr224Pro						p.T224P	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	670	+			224			Cytoplasmic (Potential).		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.670A>C	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.994194	0.35226	.	.	ENSG00000236032	ENST00000437310	T	0.00207	8.55	2.49	-4.09	0.03951	GPCR, rhodopsin-like superfamily (1);	0.633831	0.13915	N	0.353973	T	0.00552	0.0018	H	0.96301	3.8	0.09310	N	1	P	0.52577	0.954	D	0.63793	0.918	T	0.37934	-0.9684	10	0.72032	D	0.01	.	3.1625	0.06524	0.2091:0.0:0.3782:0.4128	.	224	A6NHG9	O5H14_HUMAN	P	224	ENSP00000401706:T224P	ENSP00000401706:T224P	T	+	1	0	OR5H14	99351589	0.000000	0.05858	0.025000	0.17156	0.028000	0.11728	-0.327000	0.07955	-0.797000	0.04450	0.164000	0.16699	ACA		0.358	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			3	38	0	0	0	0	3	38				
OR5H6	79295	broad.mit.edu	37	3	97983841	97983841	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:97983841T>C	ENST00000383696.2	+	1	754	c.713T>C	c.(712-714)cTc>cCc	p.L238P	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	238						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)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAATTATCCTCTTTACAATC	0.353																																						uc003dsi.1		NA																	0				skin(2)|large_intestine(1)	3						c.(712-714)CTC>CCC		olfactory receptor, family 5, subfamily H,							42.0	43.0	42.0					3																	97983841		2203	4297	6500	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983841T>C	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.713T>C	3.37:g.97983841T>C	ENSP00000373196:p.Leu238Pro						p.L238P	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	713	+			238			Cytoplasmic (Potential).		Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.713T>C	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	12.38	1.919630	0.33908	.	.	ENSG00000230301	ENST00000383696	T	0.00249	8.44	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38605	N	0.001629	T	0.00580	0.0019	M	0.91510	3.215	0.09310	N	0.99999	D	0.89917	1.0	D	0.79108	0.992	T	0.26360	-1.0105	10	0.87932	D	0	.	7.9658	0.30098	0.0:0.0:0.0:1.0	.	238	Q8NGV6	OR5H6_HUMAN	P	238	ENSP00000373196:L238P	ENSP00000373196:L238P	L	+	2	0	OR5H6	99466531	0.055000	0.20627	0.025000	0.17156	0.012000	0.07955	2.741000	0.47426	1.006000	0.39211	0.163000	0.16589	CTC		0.353	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			4	35	0	0	0	0	4	35				
HHLA2	11148	broad.mit.edu	37	3	108072558	108072558	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:108072558G>A	ENST00000357759.5	+	4	763	c.349G>A	c.(349-351)Gga>Aga	p.G117R	HHLA2_ENST00000491820.1_Missense_Mutation_p.G117R|HHLA2_ENST00000467562.1_Missense_Mutation_p.G53R|HHLA2_ENST00000489514.2_Missense_Mutation_p.G117R|HHLA2_ENST00000467761.1_Missense_Mutation_p.G117R	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	117	Ig-like V-type 1.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCTGGACGAAGGAATTTACAC	0.403																																						uc003dwy.3		NA																	0				ovary(1)	1						c.(349-351)GGA>AGA		HERV-H LTR-associating 2 precursor							93.0	90.0	91.0					3																	108072558		1903	4129	6032	SO:0001583	missense	11148					integral to membrane		g.chr3:108072558G>A	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.349G>A	3.37:g.108072558G>A	ENSP00000350402:p.Gly117Arg					HHLA2_uc011bhl.1_Missense_Mutation_p.G53R|HHLA2_uc010hpu.2_Missense_Mutation_p.G117R|HHLA2_uc003dwz.2_Missense_Mutation_p.G117R	p.G117R	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN			4	516	+			117			Ig-like V-type 1.		B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	ENST00000357759.5	37	c.349G>A	CCDS46883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.68|16.68	3.189740|3.189740	0.57909|0.57909	.|.	.|.	ENSG00000114455|ENSG00000114455	ENST00000467282;ENST00000463019;ENST00000491820;ENST00000467562;ENST00000482430;ENST00000357759;ENST00000467761;ENST00000489514|ENST00000482099	T;T;T;T;T;T;T;T|.	0.19806|.	2.51;2.51;2.51;2.12;2.51;2.51;2.51;2.51|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.40385|.	N|.	0.001101|.	T|T	0.79534|0.79534	0.4462|0.4462	M|M	0.92122|0.92122	3.275|3.275	0.32330|0.32330	N|N	0.561259|0.561259	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.997;0.997;0.997|.	D|D	0.86427|0.86427	0.1758|0.1758	10|5	0.87932|.	D|.	0|.	-22.3796|-22.3796	14.8007|14.8007	0.69913|0.69913	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	53;117;117|.	B4DKN2;C9J7D0;Q9UM44|.	.;.;HHLA2_HUMAN|.	R|K	84;117;117;53;117;117;117;117|19	ENSP00000420622:G84R;ENSP00000419940:G117R;ENSP00000418284:G117R;ENSP00000418345:G53R;ENSP00000418174:G117R;ENSP00000350402:G117R;ENSP00000419207:G117R;ENSP00000417856:G117R|.	ENSP00000350402:G117R|.	G|R	+|+	1|2	0|0	HHLA2|HHLA2	109555248|109555248	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.049000|0.049000	0.14656|0.14656	5.995000|5.995000	0.70631|0.70631	2.554000|2.554000	0.86153|0.86153	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.403	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		15	34	0	0	0	0	15	34				
IGSF10	285313	broad.mit.edu	37	3	151161398	151161398	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:151161398C>A	ENST00000282466.3	-	5	5336	c.5337G>T	c.(5335-5337)tgG>tgT	p.W1779C	IGSF10_ENST00000495443.1_5'Flank	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	1779	Ig-like C2-type 4.				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)			TTGCAAGAATCCAGGTAACTG	0.498																																						uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(5335-5337)TGG>TGT		immunoglobulin superfamily, member 10 precursor							130.0	116.0	121.0					3																	151161398		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151161398C>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.5337G>T	3.37:g.151161398C>A	ENSP00000282466:p.Trp1779Cys					IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	p.W1779C	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		5	5337	-			1779			Ig-like C2-type 4.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.5337G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987208	0.74589	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	D	0.96300	-3.97	5.15	5.15	0.70609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45361	D	0.000379	D	0.99013	0.9663	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99282	1.0896	9	.	.	.	.	18.6112	0.91285	0.0:1.0:0.0:0.0	.	1779	Q6WRI0	IGS10_HUMAN	C	1779;406	ENSP00000282466:W1779C	.	W	-	3	0	IGSF10	152644088	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.760000	0.85248	2.401000	0.81631	0.585000	0.79938	TGG		0.498	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		16	93	1	0	9.17e-09	1.97e-08	16	93				
MSX1	4487	broad.mit.edu	37	4	4864759	4864759	+	Silent	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:4864759G>T	ENST00000382723.4	+	2	1035	c.801G>T	c.(799-801)gcG>gcT	p.A267A		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	267	Poly-Ala.				activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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 negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGGCCGCGGCGGGTGCCTCGC	0.706																																						uc003gif.2		NA																	0					0						c.(799-801)GCG>GCT		msh homeobox 1							11.0	12.0	12.0					4																	4864759		2095	4159	6254	SO:0001819	synonymous_variant	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864759G>T	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.801G>T	4.37:g.4864759G>T							p.A267A	NM_002448	NP_002439	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	1036	+			261			Poly-Ala.		A0SZU5|A8K3M1|Q96NY4	Silent	SNP	ENST00000382723.4	37	c.801G>T	CCDS3378.2																																																																																				0.706	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			6	18	1	0	5.94e-07	1.25e-06	6	18				
AIMP1	9255	broad.mit.edu	37	4	107252981	107252981	+	Missense_Mutation	SNP	G	G	A	rs148281523		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:107252981G>A	ENST00000442366.1	+	5	596	c.544G>A	c.(544-546)Gga>Aga	p.G182R	AIMP1_ENST00000358008.3_Missense_Mutation_p.G182R|AIMP1_ENST00000394701.4_Missense_Mutation_p.G206R	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	182	Interaction with HSP90B1. {ECO:0000250}.|Required for endothelial cell migration.|tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						AGTAGATGTCGGAGAAATAGC	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		15909	0.0		0.001	False		,,,				2504	0.0					uc011cfg.1		NA																	0					0						c.(544-546)GGA>AGA		small inducible cytokine subfamily E, member 1							200.0	196.0	197.0					4																	107252981		2203	4300	6503	SO:0001583	missense	9255				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	g.chr4:107252981G>A	U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"""EMAP II"", ""ARS-interacting multifunctional protein 1"""	603605	"""small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"""	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.544G>A	4.37:g.107252981G>A	ENSP00000405248:p.Gly182Arg					AIMP1_uc003hyg.2_Missense_Mutation_p.G182R|AIMP1_uc003hyh.2_Missense_Mutation_p.G206R	p.G182R	NM_001142415	NP_001135887	Q12904	AIMP1_HUMAN			5	596	+			182			tRNA-binding.|Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration.		B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Missense_Mutation	SNP	ENST00000442366.1	37	c.544G>A	CCDS3674.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	32	5.146107	0.94603	.	.	ENSG00000164022	ENST00000442366;ENST00000358008;ENST00000394701	T;T;T	0.71934	-0.52;-0.52;-0.61	5.47	5.47	0.80525	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.91603	0.7347	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95016	0.8156	9	.	.	.	-34.5176	19.3164	0.94215	0.0:0.0:1.0:0.0	.	182	Q12904	AIMP1_HUMAN	R	182;182;206	ENSP00000405248:G182R;ENSP00000350699:G182R;ENSP00000378191:G206R	.	G	+	1	0	AIMP1	107472430	1.000000	0.71417	0.988000	0.46212	0.961000	0.63080	9.040000	0.93783	2.561000	0.86390	0.650000	0.86243	GGA		0.428	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	NM_004757		27	189	0	0	0	0	27	189				
FAT4	79633	broad.mit.edu	37	4	126241670	126241670	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:126241670C>T	ENST00000394329.3	+	1	4117	c.4104C>T	c.(4102-4104)aaC>aaT	p.N1368N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1368	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAGCCCAAACACTGGGAGTA	0.378																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(4102-4104)AAC>AAT		FAT tumor suppressor homolog 4 precursor							126.0	117.0	120.0					4																	126241670		1830	4087	5917	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241670C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4104C>T	4.37:g.126241670C>T							p.N1368N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	4104	+			1368			Cadherin 13.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.4104C>T	CCDS3732.3																																																																																				0.378	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		21	72	0	0	0	0	21	72				
FBXW7	55294	broad.mit.edu	37	4	153247226	153247226	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:153247226A>G	ENST00000281708.4	-	10	2805	c.1576T>C	c.(1576-1578)Tgg>Cgg	p.W526R	FBXW7_ENST00000603841.1_Missense_Mutation_p.W526R|FBXW7_ENST00000263981.5_Missense_Mutation_p.W446R|FBXW7_ENST00000393956.3_Missense_Mutation_p.W350R|FBXW7_ENST00000296555.5_Missense_Mutation_p.W408R|FBXW7_ENST00000603548.1_Missense_Mutation_p.W526R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	526					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.W526R(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTGGATCCCACACCTTTACC	0.428			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NA		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		3	Substitution - Missense(2)|Unknown(1)	p.W526R(2)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1576-1578)TGG>CGG		F-box and WD repeat domain containing 7 isoform							204.0	196.0	199.0					4																	153247226		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247226A>G	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1576T>C	4.37:g.153247226A>G	ENSP00000281708:p.Trp526Arg					FBXW7_uc011cii.1_Missense_Mutation_p.W526R|FBXW7_uc003imt.2_Missense_Mutation_p.W526R|FBXW7_uc011cih.1_Missense_Mutation_p.W350R|FBXW7_uc003imq.2_Missense_Mutation_p.W446R|FBXW7_uc003imr.2_Missense_Mutation_p.W408R	p.W526R	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1725	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	526			WD 4.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1576T>C	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.695875	0.68386	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.72	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052465	0.85682	D	0.000000	D	0.95014	0.8386	H	0.99590	4.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96142	0.9101	10	0.87932	D	0	-10.515	13.2579	0.60089	0.8674:0.1326:0.0:0.0	.	350;526;408;446	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	R	526;408;446;350	ENSP00000281708:W526R;ENSP00000296555:W408R;ENSP00000263981:W446R;ENSP00000377528:W350R	ENSP00000263981:W446R	W	-	1	0	FBXW7	153466676	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.287000	0.95975	1.077000	0.40990	-0.323000	0.08544	TGG		0.428	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			16	89	0	0	0	0	16	89				
ASIC5	51802	broad.mit.edu	37	4	156752996	156752996	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:156752996A>T	ENST00000537611.2	-	9	1353	c.1307T>A	c.(1306-1308)gTg>gAg	p.V436E		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	436					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										AGACACACTCACCGCCTTTTG	0.338																																						uc003ipe.1		NA																	0				ovary(2)|skin(1)	3						c.(1306-1308)GTG>GAG		amiloride-sensitive cation channel 5,							134.0	144.0	141.0					4																	156752996		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156752996A>T	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1307T>A	4.37:g.156752996A>T	ENSP00000442477:p.Val436Glu						p.V436E	NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	9	1354	-	all_hematologic(180;0.24)	Renal(120;0.0458)	436			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000537611.2	37	c.1307T>A	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.851542	0.71719	.	.	ENSG00000256394	ENST00000537611	T	0.64438	-0.1	4.65	4.65	0.58169	.	0.219859	0.31071	N	0.008304	T	0.62696	0.2449	M	0.66939	2.045	0.37787	D	0.92721	B	0.28971	0.229	B	0.32393	0.145	T	0.68500	-0.5392	10	0.51188	T	0.08	-15.4997	14.7889	0.69824	1.0:0.0:0.0:0.0	.	436	Q9NY37	ACCN5_HUMAN	E	436	ENSP00000442477:V436E	ENSP00000264432:V436E	V	-	2	0	ACCN5	156972446	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.067000	0.50010	2.045000	0.60652	0.477000	0.44152	GTG		0.338	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			17	73	0	0	0	0	17	73				
WDR17	116966	broad.mit.edu	37	4	177081214	177081214	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:177081214G>A	ENST00000280190.4	+	20	2823	c.2667G>A	c.(2665-2667)gtG>gtA	p.V889V	WDR17_ENST00000393643.2_Silent_p.V865V|WDR17_ENST00000508596.1_Silent_p.V865V|WDR17_ENST00000507824.2_Silent_p.V872V			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	889										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTGGTGATGTGAAAAAGCTAG	0.378																																						uc003iuj.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(2665-2667)GTG>GTA		WD repeat domain 17 isoform 1							130.0	118.0	122.0					4																	177081214		2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177081214G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2667G>A	4.37:g.177081214G>A						WDR17_uc003iuk.2_Silent_p.V865V|WDR17_uc003ium.3_Silent_p.V865V|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Silent_p.V108V	p.V889V	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	20	2823	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	889					E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.2667G>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	1.629	-0.519413	0.04171	.	.	ENSG00000150627	ENST00000443118	.	.	.	5.52	4.67	0.58626	.	.	.	.	.	T	0.61664	0.2365	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58657	-0.7598	4	.	.	.	-16.4491	10.8467	0.46746	0.1453:0.0:0.8547:0.0	.	.	.	.	K	132	.	.	E	+	1	0	WDR17	177318208	1.000000	0.71417	0.997000	0.53966	0.212000	0.24457	1.105000	0.31086	2.579000	0.87056	0.655000	0.94253	GAA		0.378	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			8	32	0	0	0	0	8	32				
FAT1	2195	broad.mit.edu	37	4	187628208	187628208	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:187628208G>C	ENST00000441802.2	-	2	2983	c.2774C>G	c.(2773-2775)cCt>cGt	p.P925R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	925	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATAAATGTAGGTGGGTTGTC	0.458										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(2773-2775)CCT>CGT		FAT tumor suppressor 1 precursor							244.0	237.0	239.0					4																	187628208		1944	4151	6095	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187628208G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2774C>G	4.37:g.187628208G>C	ENSP00000406229:p.Pro925Arg	HNSCC(5;0.00058)				FAT1_uc010iso.1_Missense_Mutation_p.P925R	p.P925R	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	2962	-			925			Extracellular (Potential).|Cadherin 7.			Missense_Mutation	SNP	ENST00000441802.2	37	c.2774C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940513	0.52972	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.72505	-0.66	4.67	4.67	0.58626	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91499	0.7316	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95246	0.8355	10	0.87932	D	0	.	18.1062	0.89520	0.0:0.0:1.0:0.0	.	925	Q14517	FAT1_HUMAN	R	925	ENSP00000406229:P925R	ENSP00000260147:P925R	P	-	2	0	FAT1	187865202	1.000000	0.71417	0.504000	0.27639	0.249000	0.25844	9.601000	0.98297	2.579000	0.87056	0.491000	0.48974	CCT		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		38	249	0	0	0	0	38	249				
PRDM9	56979	broad.mit.edu	37	5	23522511	23522511	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr5:23522511C>A	ENST00000296682.3	+	7	789	c.607C>A	c.(607-609)Ctc>Atc	p.L203I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	203					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGATGATTACCTCTGTAAGTG	0.438										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(607-609)CTC>ATC		PR domain containing 9							118.0	128.0	125.0					5																	23522511		2027	4208	6235	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522511C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.607C>A	5.37:g.23522511C>A	ENSP00000296682:p.Leu203Ile	HNSCC(3;0.000094)					p.L203I	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			7	789	+			203					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.607C>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276195	0.59649	.	.	ENSG00000164256	ENST00000296682	T	0.41758	0.99	3.72	2.83	0.33086	.	.	.	.	.	T	0.55130	0.1901	L	0.61387	1.9	0.23950	N	0.996379	D	0.63880	0.993	D	0.67548	0.952	T	0.38112	-0.9676	9	0.87932	D	0	-13.0238	6.2543	0.20865	0.0:0.8606:0.0:0.1394	.	203	Q9NQV7	PRDM9_HUMAN	I	203	ENSP00000296682:L203I	ENSP00000296682:L203I	L	+	1	0	PRDM9	23558268	0.917000	0.31117	1.000000	0.80357	0.773000	0.43773	0.586000	0.23894	2.022000	0.59522	0.597000	0.82753	CTC		0.438	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		32	110	1	0	9.66e-10	2.1e-09	32	110				
OTP	23440	broad.mit.edu	37	5	76932942	76932942	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr5:76932942G>A	ENST00000306422.3	-	2	1289	c.151C>T	c.(151-153)Cca>Tca	p.P51S	OTP_ENST00000515716.1_5'Flank	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	51					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CCCTCCACTGGGTCAGAGTTG	0.716																																						uc003kfg.2		NA																	0				pancreas(1)	1						c.(151-153)CCA>TCA		orthopedia homeobox							11.0	14.0	13.0					5																	76932942		2195	4292	6487	SO:0001583	missense	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76932942G>A		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.151C>T	5.37:g.76932942G>A	ENSP00000302814:p.Pro51Ser						p.P51S	NM_032109	NP_115485	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	2	299	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	51						Missense_Mutation	SNP	ENST00000306422.3	37	c.151C>T	CCDS4039.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.958113	0.34565	.	.	ENSG00000171540	ENST00000306422	D	0.92099	-2.97	5.46	3.57	0.40892	.	0.309128	0.31041	N	0.008378	T	0.78123	0.4234	N	0.03608	-0.345	0.25162	N	0.99035	B	0.06786	0.001	B	0.04013	0.001	T	0.62234	-0.6897	10	0.15952	T	0.53	.	9.5983	0.39587	0.0:0.2127:0.5894:0.1979	.	51	Q5XKR4	OTP_HUMAN	S	51	ENSP00000302814:P51S	ENSP00000302814:P51S	P	-	1	0	OTP	76968698	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.731000	0.26058	2.732000	0.93576	0.655000	0.94253	CCA		0.716	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			8	9	0	0	0	0	8	9				
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C	rs201104305		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687																																						uc003lhx.2		NA																	2	Substitution - Missense(2)		urinary_tract(1)|kidney(1)	ovary(2)|skin(2)|breast(1)	5						c.(1615-1617)GGG>GCG		protocadherin alpha 10 isoform 1 precursor							53.0	57.0	56.0					5																	140237249		2196	4266	6462	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237249G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1616G>C	5.37:g.140237249G>C	ENSP00000304234:p.Gly539Ala					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.G539A	p.G539A	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1616	+			539			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1616G>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.655795	0.00108	.	.	ENSG00000250120	ENST00000307360	T	0.50277	0.75	3.63	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32102	0.0818	L	0.31752	0.955	0.21841	N	0.999515	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.009	T	0.17653	-1.0362	9	0.02654	T	1	.	13.5065	0.61486	0.0:0.7018:0.2982:0.0	.	539;539	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	A	539	ENSP00000304234:G539A	ENSP00000304234:G539A	G	+	2	0	PCDHA10	140217433	0.000000	0.05858	0.992000	0.48379	0.064000	0.16182	0.168000	0.16622	0.861000	0.35504	-0.220000	0.12472	GGG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		7	107	0	0	0	0	7	107				
PCDHB8	56128	broad.mit.edu	37	5	140558802	140558802	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr5:140558802C>A	ENST00000239444.2	+	1	1432	c.1187C>A	c.(1186-1188)tCt>tAt	p.S396Y	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	396	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(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTGAAATCTTCTGTGGGG	0.453																																						uc011dai.1		NA																	0				skin(4)	4						c.(1186-1188)TCT>TAT		protocadherin beta 8 precursor							110.0	148.0	135.0					5																	140558802		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558802C>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1187C>A	5.37:g.140558802C>A	ENSP00000239444:p.Ser396Tyr					PCDHB16_uc003liv.2_5'Flank	p.S396Y	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1373	+			396			Cadherin 4.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1187C>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	7.250	0.603100	0.13939	.	.	ENSG00000120322	ENST00000239444	T	0.03607	3.87	4.21	4.21	0.49690	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.14830	0.0358	M	0.83692	2.655	0.09310	N	1	P	0.44734	0.842	P	0.56398	0.797	T	0.02774	-1.1112	9	0.87932	D	0	.	8.7653	0.34700	0.0:0.8471:0.0:0.1529	.	396	Q9UN66	PCDB8_HUMAN	Y	396	ENSP00000239444:S396Y	ENSP00000239444:S396Y	S	+	2	0	PCDHB8	140538986	0.000000	0.05858	0.026000	0.17262	0.020000	0.10135	1.219000	0.32479	1.907000	0.55213	0.580000	0.79431	TCT		0.453	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		34	447	1	0	2.82e-10	6.16e-10	34	447				
ITK	3702	broad.mit.edu	37	5	156668657	156668657	+	Splice_Site	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr5:156668657C>T	ENST00000422843.3	+	11	1139	c.987C>T	c.(985-987)ggC>ggT	p.G329G	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	329	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	TCAACCCAGGCCTGGTGACTC	0.448			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	uc003lwo.1		NA		Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26						c.(985-987)GGC>GGT		IL2-inducible T-cell kinase							84.0	70.0	75.0					5																	156668657		2203	4300	6503	SO:0001630	splice_region_variant	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156668657C>T	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.986-1C>T	5.37:g.156668657C>T							p.G329G	NM_005546	NP_005537	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		11	1069	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	329			SH2.		B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	c.987C>T	CCDS4336.1																																																																																				0.448	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2		Silent	9	24	0	0	0	0	9	24				
GFPT2	9945	broad.mit.edu	37	5	179740899	179740899	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr5:179740899C>T	ENST00000253778.8	-	14	1508	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	447	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|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)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GTGTTGGTGACGCCCACGGTG	0.706																																						uc003mlw.1		NA																	0				ovary(1)|skin(1)	2						c.(1339-1341)GTC>ATC		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						20.0	25.0	23.0					5																	179740899		2183	4274	6457	SO:0001583	missense	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179740899C>T	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1339G>A	5.37:g.179740899C>T	ENSP00000253778:p.Val447Ile						p.V447I	NM_005110	NP_005101	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1437	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	447			SIS 1.		Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	c.1339G>A	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	C	2.156	-0.393445	0.04899	.	.	ENSG00000131459	ENST00000253778	T	0.50548	0.74	5.8	1.98	0.26296	Sugar isomerase (SIS) (2);	0.287190	0.36234	N	0.002720	T	0.20659	0.0497	N	0.04116	-0.275	0.32513	N	0.537332	B	0.06786	0.001	B	0.09377	0.004	T	0.18967	-1.0320	9	.	.	.	-27.2037	8.3227	0.32138	0.0:0.5848:0.0:0.4152	.	447	O94808	GFPT2_HUMAN	I	447	ENSP00000253778:V447I	.	V	-	1	0	GFPT2	179673505	0.015000	0.18098	0.728000	0.30774	0.335000	0.28730	0.154000	0.16343	0.774000	0.33427	0.650000	0.86243	GTC		0.706	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		4	14	0	0	0	0	4	14				
SERPINB9	5272	broad.mit.edu	37	6	2900802	2900802	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr6:2900802A>G	ENST00000380698.4	-	2	133	c.44T>C	c.(43-45)cTt>cCt	p.L15P		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	15					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TATCTTTAAAAGGCGTATGGC	0.473																																						uc003mug.2		NA																	0					0						c.(43-45)CTT>CCT		serpin peptidase inhibitor, clade B, member 9							229.0	218.0	222.0					6																	2900802		2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2900802A>G	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.44T>C	6.37:g.2900802A>G	ENSP00000370074:p.Leu15Pro					uc003mue.2_RNA|SERPINB9_uc003muh.2_Missense_Mutation_p.L15P	p.L15P	NM_004155	NP_004146	P50453	SPB9_HUMAN			2	165	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	15					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.44T>C	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.387457	0.61956	.	.	ENSG00000170542	ENST00000380698	D	0.90844	-2.74	5.37	4.19	0.49359	Serpin domain (3);	0.120476	0.56097	D	0.000022	D	0.96574	0.8882	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97070	0.9777	10	0.87932	D	0	.	11.9931	0.53186	0.8549:0.1451:0.0:0.0	.	15	P50453	SPB9_HUMAN	P	15	ENSP00000370074:L15P	ENSP00000370074:L15P	L	-	2	0	SERPINB9	2845801	0.998000	0.40836	0.030000	0.17652	0.002000	0.02628	8.366000	0.90111	0.959000	0.37980	-0.313000	0.08912	CTT		0.473	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			3	162	0	0	0	0	3	162				
LRFN2	57497	broad.mit.edu	37	6	40399668	40399668	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr6:40399668G>A	ENST00000338305.6	-	2	1727	c.1185C>T	c.(1183-1185)cgC>cgT	p.R395R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	395						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTCTGAGAGGCGGGACTTGG	0.667																																						uc003oph.1		NA																	0				ovary(2)|skin(1)	3						c.(1183-1185)CGC>CGT		leucine rich repeat and fibronectin type III							46.0	45.0	45.0					6																	40399668		2202	4300	6502	SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399668G>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1185C>T	6.37:g.40399668G>A							p.R395R	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	1650	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		395			Extracellular (Potential).		A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.1185C>T	CCDS34443.1																																																																																				0.667	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		14	43	0	0	0	0	14	43				
PHF3	23469	broad.mit.edu	37	6	64422707	64422707	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr6:64422707G>A	ENST00000262043.3	+	16	5563	c.5223G>A	c.(5221-5223)gaG>gaA	p.E1741E	PHF3_ENST00000393387.1_Silent_p.E1741E			Q92576	PHF3_HUMAN	PHD finger protein 3	1741					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCTTACAGGAGGATATTTTAA	0.388																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(5221-5223)GAG>GAA		PHD finger protein 3							77.0	78.0	77.0					6																	64422707		2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422707G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5223G>A	6.37:g.64422707G>A						PHF3_uc003pen.2_Silent_p.E1653E|PHF3_uc011dxs.1_Silent_p.E1010E	p.E1741E	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		15	5249	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1741					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.5223G>A	CCDS4966.1																																																																																				0.388	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			10	41	0	0	0	0	10	41				
MED23	9439	broad.mit.edu	37	6	131917269	131917269	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr6:131917269G>A	ENST00000368068.3	-	22	2992	c.2813C>T	c.(2812-2814)gCg>gTg	p.A938V	MED23_ENST00000354577.4_Missense_Mutation_p.A944V|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Missense_Mutation_p.A938V|MED23_ENST00000545957.1_Missense_Mutation_p.A579V|MED23_ENST00000368058.1_Missense_Mutation_p.A944V|MED23_ENST00000403834.3_Missense_Mutation_p.A944V	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	938					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CACCTGTTCCGCGAGGCCCTC	0.383																																						uc003qcs.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2812-2814)GCG>GTG		mediator complex subunit 23 isoform a							101.0	108.0	105.0					6																	131917269		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131917269G>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2813C>T	6.37:g.131917269G>A	ENSP00000357047:p.Ala938Val					MED23_uc003qcq.2_Missense_Mutation_p.A944V|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Missense_Mutation_p.A579V	p.A938V	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	22	2987	-	Breast(56;0.0753)		938					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.2813C>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759487	0.31137	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.71	5.71	0.89125	.	0.046671	0.85682	D	0.000000	T	0.39436	0.1078	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.31174	0.311;0.031;0.025	B;B;B	0.22386	0.039;0.011;0.007	T	0.55049	-0.8201	10	0.08837	T	0.75	-0.8161	19.9369	0.97144	0.0:0.0:1.0:0.0	.	579;938;944	B4E3G4;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	V	944;938;944;938;944;579	ENSP00000346588:A944V;ENSP00000357047:A938V;ENSP00000384536:A944V;ENSP00000357039:A938V;ENSP00000357037:A944V;ENSP00000439977:A579V	ENSP00000346588:A944V	A	-	2	0	MED23	131958962	1.000000	0.71417	0.884000	0.34674	0.058000	0.15608	9.865000	0.99609	2.704000	0.92352	0.644000	0.83932	GCG		0.383	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			25	70	0	0	0	0	25	70				
AHR	196	broad.mit.edu	37	7	17349613	17349613	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:17349613G>C	ENST00000242057.4	+	2	762	c.119G>C	c.(118-120)aGa>aCa	p.R40T		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	40	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	AAGCGGCATAGAGACCGACTT	0.383																																						uc011jxz.1		NA																	0				urinary_tract(1)|kidney(1)|pancreas(1)	3						c.(118-120)AGA>ACA		aryl hydrocarbon receptor precursor							88.0	76.0	80.0					7																	17349613		2203	4300	6503	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17349613G>C	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.119G>C	7.37:g.17349613G>C	ENSP00000242057:p.Arg40Thr					AHR_uc003stt.3_RNA	p.R40T	NM_001621	NP_001612	P35869	AHR_HUMAN			2	732	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		40			Basic motif.		A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.119G>C	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135559	0.94517	.	.	ENSG00000106546	ENST00000242057	D	0.99201	-5.55	5.49	5.49	0.81192	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98036	1.0379	10	0.87932	D	0	.	19.7314	0.96182	0.0:0.0:1.0:0.0	.	40	P35869	AHR_HUMAN	T	40	ENSP00000242057:R40T	ENSP00000242057:R40T	R	+	2	0	AHR	17316138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.727000	0.93392	0.655000	0.94253	AGA		0.383	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		8	38	0	0	0	0	8	38				
MACC1	346389	broad.mit.edu	37	7	20199733	20199733	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:20199733A>G	ENST00000400331.5	-	5	559	c.251T>C	c.(250-252)cTa>cCa	p.L84P	MACC1_ENST00000332878.4_Missense_Mutation_p.L84P|MACC1_ENST00000589011.1_Missense_Mutation_p.L84P	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	84					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTTATTTCTTAGTTGAGTTAT	0.348																																						uc003sus.3		NA																	0				ovary(2)|skin(1)	3						c.(250-252)CTA>CCA		putative binding protein 7a5							48.0	50.0	49.0					7																	20199733		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20199733A>G		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.251T>C	7.37:g.20199733A>G	ENSP00000383185:p.Leu84Pro					MACC1_uc010kug.2_Missense_Mutation_p.L84P	p.L84P	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	560	-			84					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.251T>C	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	A	2.999	-0.206424	0.06180	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.10668	2.85;2.85	5.82	1.98	0.26296	.	0.528864	0.20853	N	0.084500	T	0.11665	0.0284	L	0.59436	1.845	0.46044	D	0.998839	P	0.42123	0.771	B	0.43575	0.424	T	0.09228	-1.0684	10	0.46703	T	0.11	-5.7451	3.4773	0.07589	0.398:0.0:0.1376:0.4644	.	84	Q6ZN28	MACC1_HUMAN	P	84	ENSP00000383185:L84P;ENSP00000328410:L84P	ENSP00000328410:L84P	L	-	2	0	MACC1	20166258	0.968000	0.33430	0.889000	0.34880	0.441000	0.31987	1.271000	0.33098	0.086000	0.17137	-0.414000	0.06135	CTA		0.348	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		16	37	0	0	0	0	16	37				
NEUROD6	63974	broad.mit.edu	37	7	31378780	31378780	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:31378780C>G	ENST00000297142.3	-	2	425	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	35					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAAAGCTTTCTGGCTTCTTA	0.448																																						uc003tch.2		NA																	0				ovary(2)	2						c.(103-105)GAA>CAA		neurogenic differentiation 6							136.0	147.0	143.0					7																	31378780		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378780C>G	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.103G>C	7.37:g.31378780C>G	ENSP00000297142:p.Glu35Gln						p.E35Q	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	456	-			35					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.103G>C	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991695	0.35131	.	.	ENSG00000164600	ENST00000297142	D	0.95307	-3.67	5.28	5.28	0.74379	.	0.231900	0.42294	D	0.000737	D	0.91831	0.7415	L	0.43152	1.355	0.54753	D	0.999981	B	0.21688	0.059	B	0.15484	0.013	D	0.88171	0.2864	10	0.29301	T	0.29	-5.3155	18.9485	0.92632	0.0:1.0:0.0:0.0	.	35	Q96NK8	NDF6_HUMAN	Q	35	ENSP00000297142:E35Q	ENSP00000297142:E35Q	E	-	1	0	NEUROD6	31345305	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.733000	0.74796	2.485000	0.83878	0.650000	0.86243	GAA		0.448	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		37	121	0	0	0	0	37	121				
ABCA13	154664	broad.mit.edu	37	7	48390266	48390266	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:48390266C>T	ENST00000435803.1	+	30	10255	c.10231C>T	c.(10231-10233)Cat>Tat	p.H3411Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3411					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						GATGTTTAACCATGCAGGCGC	0.512																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(10231-10233)CAT>TAT		ATP binding cassette, sub-family A (ABC1),							150.0	151.0	151.0					7																	48390266		2047	4208	6255	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48390266C>T	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.10231C>T	7.37:g.48390266C>T	ENSP00000411096:p.His3411Tyr					ABCA13_uc010kys.1_Missense_Mutation_p.H485Y|ABCA13_uc003tos.1_Missense_Mutation_p.H237Y	p.H3411Y	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			30	10256	+			3411					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.10231C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544242	0.45280	.	.	ENSG00000179869	ENST00000435803	D	0.85411	-1.98	4.65	2.65	0.31530	.	0.438446	0.19317	N	0.117248	D	0.86372	0.5917	L	0.41236	1.265	0.09310	N	0.999999	D;D	0.67145	0.991;0.996	P;D	0.64321	0.616;0.924	T	0.76997	-0.2751	10	0.59425	D	0.04	.	9.9179	0.41446	0.502:0.498:0.0:0.0	.	1113;3411	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	Y	3411	ENSP00000411096:H3411Y	ENSP00000411096:H3411Y	H	+	1	0	ABCA13	48360812	0.002000	0.14202	0.004000	0.12327	0.005000	0.04900	1.389000	0.34453	0.889000	0.36185	0.650000	0.86243	CAT		0.512	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		63	103	0	0	0	0	63	103				
ZPBP	11055	broad.mit.edu	37	7	50121443	50121443	+	Silent	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:50121443C>G	ENST00000046087.2	-	3	330	c.261G>C	c.(259-261)acG>acC	p.T87T	ZPBP_ENST00000419417.1_Silent_p.T87T	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	87					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GCAGTTGTTGCGTTACACATA	0.343																																						uc003tou.2		NA																	0					0						c.(259-261)ACG>ACC		zona pellucida binding protein isoform 1							141.0	131.0	134.0					7																	50121443		2203	4300	6503	SO:0001819	synonymous_variant	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50121443C>G	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.261G>C	7.37:g.50121443C>G						ZPBP_uc011kci.1_Silent_p.T13T|ZPBP_uc010kyw.2_Silent_p.T87T	p.T87T	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			3	331	-	Glioma(55;0.08)|all_neural(89;0.245)		87					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	ENST00000046087.2	37	c.261G>C	CCDS5509.1																																																																																				0.343	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		23	39	0	0	0	0	23	39				
CTTNBP2	83992	broad.mit.edu	37	7	117432010	117432010	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:117432010C>T	ENST00000160373.3	-	4	1331	c.1240G>A	c.(1240-1242)Ggc>Agc	p.G414S	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	414	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGAGCTATGCCTGGTGTTTGA	0.527																																						uc003vjf.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1240-1242)GGC>AGC		cortactin binding protein 2							205.0	183.0	190.0					7																	117432010		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432010C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1240G>A	7.37:g.117432010C>T	ENSP00000160373:p.Gly414Ser						p.G414S	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1332	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		414			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1240G>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.807798	0.00074	.	.	ENSG00000077063	ENST00000160373	T	0.61392	0.11	4.65	1.68	0.24146	.	0.468838	0.20040	N	0.100535	T	0.34832	0.0911	L	0.31752	0.955	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.25047	-1.0143	10	0.02654	T	1	-4.2303	7.0415	0.25023	0.0:0.574:0.0:0.426	.	414	Q8WZ74	CTTB2_HUMAN	S	414	ENSP00000160373:G414S	ENSP00000160373:G414S	G	-	1	0	CTTNBP2	117219246	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.549000	0.23329	0.594000	0.29761	0.557000	0.71058	GGC		0.527	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		4	142	0	0	0	0	4	142				
FAM115C	285966	broad.mit.edu	37	7	143417084	143417084	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:143417084G>T	ENST00000441159.2	+	3	998	c.932G>T	c.(931-933)tGt>tTt	p.C311F	FAM115C_ENST00000411497.2_Missense_Mutation_p.C30F|FAM115C_ENST00000444908.2_Missense_Mutation_p.C311F|FAM115C_ENST00000411935.1_Missense_Mutation_p.C147F|FAM115C_ENST00000425618.2_Missense_Mutation_p.C30F|FAM115C_ENST00000409703.3_Missense_Mutation_p.C147F|FAM115C_ENST00000357344.4_Missense_Mutation_p.C311F			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	311					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						AAAGATCTGTGTCCTCTCCTA	0.562																																						uc003wdf.2		NA																	0					0						c.(931-933)TGT>TTT		hypothetical protein LOC285966 isoform A							2.0	1.0	1.0					7																	143417084		129	286	415	SO:0001583	missense	285966							g.chr7:143417084G>T	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.932G>T	7.37:g.143417084G>T	ENSP00000404265:p.Cys311Phe					FAM115C_uc003wdg.2_Missense_Mutation_p.C30F|FAM115C_uc011ktk.1_Missense_Mutation_p.C311F|FAM115C_uc003wdh.2_Missense_Mutation_p.C311F|FAM115C_uc011ktm.1_Missense_Mutation_p.C311F|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|FAM115C_uc011ktt.1_Missense_Mutation_p.C147F|FAM115C_uc003wdi.1_Missense_Mutation_p.C30F	p.C311F	NM_001130025	NP_001123497	A6NFQ2	F115C_HUMAN			3	1015	+			311					B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	ENST00000441159.2	37	c.932G>T		.	.	.	.	.	.	.	.	.	.	g	0.009	-1.800890	0.00611	.	.	ENSG00000170379	ENST00000444908;ENST00000411497;ENST00000357344;ENST00000441159;ENST00000411935;ENST00000409703;ENST00000425618	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	3.58	1.44	0.22558	.	1.065300	0.07032	N	0.828672	T	0.18551	0.0445	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.17268	0.021;0.001;0.001;0.001	B;B;B;B	0.10450	0.004;0.002;0.002;0.005	T	0.40627	-0.9553	10	0.10902	T	0.67	-0.2194	5.1905	0.15207	0.3965:0.0:0.6035:0.0	.	147;311;30;311	A6NFQ2-3;A6NFQ2;Q8N1I1;A6NFQ2-2	.;F115C_HUMAN;.;.	F	311;30;311;311;147;147;30	ENSP00000412724:C311F;ENSP00000349902:C311F;ENSP00000404265:C311F;ENSP00000389100:C147F;ENSP00000386405:C147F	ENSP00000349902:C311F	C	+	2	0	FAM115C	143048017	0.001000	0.12720	0.004000	0.12327	0.533000	0.34776	0.996000	0.29719	0.144000	0.18951	0.411000	0.27672	TGT		0.562	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678		6	19	1	0	1.59e-06	3.33e-06	6	19				
SNTG1	54212	broad.mit.edu	37	8	51571204	51571204	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:51571204T>C	ENST00000522124.1	+	15	1680	c.1019T>C	c.(1018-1020)aTt>aCt	p.I340T	SNTG1_ENST00000517473.1_Missense_Mutation_p.I340T|SNTG1_ENST00000518864.1_Missense_Mutation_p.I340T|SNTG1_ENST00000276467.5_Missense_Mutation_p.I340T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	340	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTTTATGAGATTATGTGCAAG	0.358																																						uc010lxy.1		NA																	0				ovary(5)	5						c.(1018-1020)ATT>ACT		syntrophin, gamma 1							115.0	97.0	103.0					8																	51571204		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51571204T>C	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1019T>C	8.37:g.51571204T>C	ENSP00000429842:p.Ile340Thr					SNTG1_uc003xqs.1_Missense_Mutation_p.I340T|SNTG1_uc010lxz.1_Missense_Mutation_p.I340T|SNTG1_uc011ldl.1_RNA	p.I340T	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			16	1390	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	340			PH.		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1019T>C	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	T	5.971	0.363051	0.11296	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.87	4.87	0.63330	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.18635	0.0447	N	0.25144	0.715	0.58432	D	0.999999	B;B	0.24483	0.104;0.057	B;B	0.29862	0.108;0.027	T	0.04242	-1.0966	10	0.02654	T	1	-19.493	10.8413	0.46718	0.0:0.0:0.0:1.0	.	340;340	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	T	340	ENSP00000429276:I340T;ENSP00000429842:I340T;ENSP00000431123:I340T;ENSP00000276467:I340T	ENSP00000276467:I340T	I	+	2	0	SNTG1	51733757	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.277000	0.72608	1.805000	0.52779	0.482000	0.46254	ATT		0.358	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			26	30	0	0	0	0	26	30				
SULF1	23213	broad.mit.edu	37	8	70476367	70476367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:70476367C>T	ENST00000260128.4	+	5	874	c.157C>T	c.(157-159)Caa>Taa	p.Q53*	SULF1_ENST00000402687.4_Nonsense_Mutation_p.Q53*|SULF1_ENST00000458141.2_Nonsense_Mutation_p.Q53*|SULF1_ENST00000419716.3_Nonsense_Mutation_p.Q53*	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	53					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)			TACCGATGATCAAGATGTGGA	0.468																																						uc010lza.1		NA																	0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(157-159)CAA>TAA		sulfatase 1 precursor							143.0	136.0	138.0					8																	70476367		2203	4300	6503	SO:0001587	stop_gained	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.chr8:70476367C>T	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.157C>T	8.37:g.70476367C>T	ENSP00000260128:p.Gln53*					SULF1_uc003xyd.2_Nonsense_Mutation_p.Q53*|SULF1_uc003xye.2_Nonsense_Mutation_p.Q53*|SULF1_uc003xyf.2_Nonsense_Mutation_p.Q53*|SULF1_uc003xyg.2_Nonsense_Mutation_p.Q53*	p.Q53*	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		5	874	+	Breast(64;0.0654)		53					Q86YV8|Q8NCA2|Q9UPS5	Nonsense_Mutation	SNP	ENST00000260128.4	37	c.157C>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	37	6.238126	0.97403	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000529134;ENST00000402687;ENST00000419716;ENST00000534179;ENST00000528783;ENST00000525999	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	.	.	.	X	53	.	ENSP00000260128:Q53X	Q	+	1	0	SULF1	70638921	1.000000	0.71417	0.793000	0.32043	0.756000	0.42949	6.933000	0.75874	2.879000	0.98667	0.650000	0.86243	CAA		0.468	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		26	108	0	0	0	0	26	108				
TRAM1	23471	broad.mit.edu	37	8	71520380	71520380	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:71520380C>T	ENST00000262213.2	-	1	224	c.55G>A	c.(55-57)Gtc>Atc	p.V19I	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000521425.1_5'Flank|TRAM1_ENST00000536748.1_Intron|RP11-382J12.1_ENST00000499227.2_5'Flank	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	19					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TTCTGCAGGACGAATTCGTGG	0.662																																					Ovarian(85;984 1334 5116 12432 40638)	uc003xyo.1		NA																	0				ovary(1)	1						c.(55-57)GTC>ATC		translocation associated membrane protein 1							74.0	74.0	74.0					8																	71520380		2203	4300	6503	SO:0001583	missense	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71520380C>T	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.55G>A	8.37:g.71520380C>T	ENSP00000262213:p.Val19Ile					TRAM1_uc011lfc.1_Intron	p.V19I	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		1	225	-			19			Cytoplasmic (Potential).		B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	c.55G>A	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515521	0.27123	.	.	ENSG00000067167	ENST00000262213	T	0.33438	1.41	5.09	-5.13	0.02884	.	0.597750	0.16817	N	0.198318	T	0.08758	0.0217	N	0.04820	-0.15	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32534	-0.9903	10	0.08837	T	0.75	-15.2235	4.1623	0.10289	0.1071:0.4459:0.1086:0.3384	.	19	Q15629	TRAM1_HUMAN	I	19	ENSP00000262213:V19I	ENSP00000262213:V19I	V	-	1	0	TRAM1	71682934	0.897000	0.30589	0.895000	0.35142	0.996000	0.88848	-0.055000	0.11807	-1.015000	0.03375	0.563000	0.77884	GTC		0.662	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		24	103	0	0	0	0	24	103				
ZBTB10	65986	broad.mit.edu	37	8	81400004	81400004	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:81400004A>G	ENST00000430430.1	+	2	1738	c.959A>G	c.(958-960)gAa>gGa	p.E320G	ZBTB10_ENST00000455036.3_Missense_Mutation_p.E320G|ZBTB10_ENST00000426744.2_Missense_Mutation_p.E320G|Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000379091.4_Intron	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	320					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)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			AAACTCCACGAAGCCAACGCC	0.537																																						uc003ybx.3		NA																	0				lung(1)	1						c.(958-960)GAA>GGA		zinc finger and BTB domain containing 10 isoform							53.0	58.0	56.0					8																	81400004		1991	4169	6160	SO:0001583	missense	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81400004A>G	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.959A>G	8.37:g.81400004A>G	ENSP00000387462:p.Glu320Gly					ZBTB10_uc003ybv.3_Intron|ZBTB10_uc003ybw.3_Missense_Mutation_p.E320G|ZBTB10_uc010lzt.2_Missense_Mutation_p.E320G	p.E320G	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		1	1557	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		320					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	37	c.959A>G	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294695	0.81025	.	.	ENSG00000205189	ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T	0.10668	2.86;2.86;2.85	4.97	3.82	0.43975	.	0.081026	0.47093	D	0.000243	T	0.10594	0.0259	N	0.14661	0.345	0.42449	D	0.992742	D;P;P	0.55172	0.97;0.634;0.932	P;B;P	0.50970	0.607;0.117;0.655	T	0.09952	-1.0651	10	0.87932	D	0	.	10.2885	0.43581	0.922:0.0:0.078:0.0	.	176;320;320	A8E4L4;Q96DT7;Q96DT7-2	.;ZBT10_HUMAN;.	G	320;320;320;148	ENSP00000387462:E320G;ENSP00000412036:E320G;ENSP00000416134:E320G	ENSP00000416134:E320G	E	+	2	0	ZBTB10	81562559	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.651000	0.67951	0.751000	0.32900	0.491000	0.48974	GAA		0.537	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		6	102	0	0	0	0	6	102				
NECAB1	64168	broad.mit.edu	37	8	91929759	91929759	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:91929759A>T	ENST00000417640.2	+	6	734	c.397A>T	c.(397-399)Aga>Tga	p.R133*		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	133						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			ATTCGTAACTAGATTTTTATT	0.403																																						uc011lgg.1		NA																	0				central_nervous_system(1)	1						c.(397-399)AGA>TGA		N-terminal EF-hand calcium binding protein 1							86.0	83.0	84.0					8																	91929759		1822	4075	5897	SO:0001587	stop_gained	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91929759A>T	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.397A>T	8.37:g.91929759A>T	ENSP00000387380:p.Arg133*						p.R133*	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		6	591	+			133					Q6NUS7|Q96AZ7|Q9HBW8	Nonsense_Mutation	SNP	ENST00000417640.2	37	c.397A>T	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	C	34	5.367887	0.95900	.	.	ENSG00000123119	ENST00000417640	.	.	.	5.58	3.6	0.41247	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2768	11.0055	0.47631	0.3042:0.6296:0.0:0.0662	.	.	.	.	X	133	.	ENSP00000387380:R133X	R	+	1	2	NECAB1	91998935	1.000000	0.71417	0.996000	0.52242	0.854000	0.48673	2.050000	0.41297	0.733000	0.32492	-0.215000	0.12644	AGA		0.403	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		14	28	0	0	0	0	14	28				
NECAB1	64168	broad.mit.edu	37	8	91929771	91929771	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:91929771A>T	ENST00000417640.2	+	6	746	c.409A>T	c.(409-411)Aag>Tag	p.K137*		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	137						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			ATTTTTATTGAAGGAAACCCT	0.393																																						uc011lgg.1		NA																	0				central_nervous_system(1)	1						c.(409-411)AAG>TAG		N-terminal EF-hand calcium binding protein 1							90.0	87.0	88.0					8																	91929771		1827	4075	5902	SO:0001587	stop_gained	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91929771A>T	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.409A>T	8.37:g.91929771A>T	ENSP00000387380:p.Lys137*						p.K137*	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		6	603	+			137			Potential.		Q6NUS7|Q96AZ7|Q9HBW8	Nonsense_Mutation	SNP	ENST00000417640.2	37	c.409A>T	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	A	39	7.859806	0.98528	.	.	ENSG00000123119	ENST00000417640	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0747	15.7481	0.77962	1.0:0.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000387380:K137X	K	+	1	0	NECAB1	91998947	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.311000	0.89973	2.116000	0.64780	0.460000	0.39030	AAG		0.393	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		16	30	0	0	0	0	16	30				
INTS8	55656	broad.mit.edu	37	8	95862216	95862216	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:95862216G>C	ENST00000523731.1	+	12	1537	c.1404G>C	c.(1402-1404)ttG>ttC	p.L468F	INTS8_ENST00000447247.1_Missense_Mutation_p.L468F	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	468					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)					TCATTACATTGTTGAAAGATG	0.353																																						uc003yhb.2		NA																	0					0						c.(1402-1404)TTG>TTC		integrator complex subunit 8							116.0	112.0	113.0					8																	95862216		2203	4300	6503	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95862216G>C	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.1404G>C	8.37:g.95862216G>C	ENSP00000430338:p.Leu468Phe					INTS8_uc003yha.1_Missense_Mutation_p.L468F|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.L295F	p.L468F	NM_017864	NP_060334	Q75QN2	INT8_HUMAN			12	1530	+	Breast(36;1.05e-06)		468					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.1404G>C	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.77|19.77	3.889236|3.889236	0.72524|0.72524	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000520526|ENST00000523731;ENST00000447247	.|.	.|.	.|.	5.54|5.54	4.67|4.67	0.58626|0.58626	.|.	.|0.062101	.|0.64402	.|D	.|0.000004	T|T	0.47116|0.47116	0.1428|0.1428	N|N	0.14661|0.14661	0.345|0.345	0.51482|0.51482	D|D	0.999927|0.999927	.|B;D	.|0.57257	.|0.115;0.979	.|B;P	.|0.54270	.|0.031;0.747	T|T	0.52682|0.52682	-0.8543|-0.8543	5|9	.|0.66056	.|D	.|0.02	-17.4366|-17.4366	11.0426|11.0426	0.47840|0.47840	0.0681:0.0:0.8032:0.1288|0.0681:0.0:0.8032:0.1288	.|.	.|468;468	.|Q75QN2;Q75QN2-2	.|INT8_HUMAN;.	S|F	290|468	.|.	.|ENSP00000343274:L468F	C|L	+|+	2|3	0|2	INTS8|INTS8	95931392|95931392	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.740000|2.740000	0.47418|0.47418	1.482000|1.482000	0.48325|0.48325	0.650000|0.650000	0.86243|0.86243	TGT|TTG		0.353	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		8	76	0	0	0	0	8	76				
CYP11B2	1585	broad.mit.edu	37	8	143999224	143999224	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:143999224C>T	ENST00000323110.2	-	1	35	c.33G>A	c.(31-33)gtG>gtA	p.V11V		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	11					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	AGGGCGCTGCCACGCACACCT	0.617									Familial Hyperaldosteronism type I																													uc003yxk.1		NA																	0					0						c.(31-33)GTG>GTA		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						102.0	103.0	103.0					8																	143999224		2203	4300	6503	SO:0001819	synonymous_variant	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143999224C>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.33G>A	8.37:g.143999224C>T							p.V11V	NM_000498	NP_000489	P19099	C11B2_HUMAN			1	36	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		11					B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	c.33G>A	CCDS6393.1																																																																																				0.617	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			41	180	0	0	0	0	41	180				
FAM83H	286077	broad.mit.edu	37	8	144811234	144811234	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:144811234G>T	ENST00000388913.3	-	4	765	c.640C>A	c.(640-642)Ccc>Acc	p.P214T		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	214					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TAGTAGGTGGGGCCCGCCACA	0.627																																						uc003yzk.2		NA																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(640-642)CCC>ACC		FAM83H																																				SO:0001583	missense	286077				biomineral tissue development			g.chr8:144811234G>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.640C>A	8.37:g.144811234G>T	ENSP00000373565:p.Pro214Thr					FAM83H_uc010mfk.1_5'Flank	p.P214T	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	709	-	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)		214					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.640C>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	17.02	3.282164	0.59867	.	.	ENSG00000180921	ENST00000388913	T	0.10477	2.87	5.01	4.13	0.48395	.	0.324485	0.32935	N	0.005470	T	0.16041	0.0386	N	0.20766	0.605	0.35911	D	0.8311	D	0.63880	0.993	D	0.63381	0.914	T	0.24657	-1.0154	10	0.24483	T	0.36	.	14.3335	0.66574	0.0:0.0:0.8508:0.1492	.	214	Q6ZRV2	FA83H_HUMAN	T	214	ENSP00000373565:P214T	ENSP00000373565:P214T	P	-	1	0	FAM83H	144883222	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	3.843000	0.55865	1.221000	0.43506	0.561000	0.74099	CCC		0.627	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		31	112	1	0	3.9e-15	8.6e-15	31	112				
PLEC	5339	broad.mit.edu	37	8	145012832	145012832	+	Silent	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:145012832G>T	ENST00000322810.4	-	2	721	c.552C>A	c.(550-552)acC>acA	p.T184T	PLEC_ENST00000398774.2_Silent_p.T15T|PLEC_ENST00000357649.2_Silent_p.T51T|PLEC_ENST00000527096.1_Silent_p.T74T|PLEC_ENST00000345136.3_Silent_p.T47T|PLEC_ENST00000356346.3_Silent_p.T33T|PLEC_ENST00000354589.3_Silent_p.T47T|PLEC_ENST00000354958.2_Silent_p.T25T|PLEC_ENST00000436759.2_Silent_p.T74T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	184	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.|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						ACTTGGTGAAGGTTTTCTTCT	0.637																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(550-552)ACC>ACA		plectin isoform 1							110.0	110.0	110.0					8																	145012832		2202	4298	6500	SO:0001819	synonymous_variant	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.chr8:145012832G>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.552C>A	8.37:g.145012832G>T						PLEC_uc003zab.1_Silent_p.T47T|PLEC_uc003zac.1_Silent_p.T51T|PLEC_uc003zad.2_Silent_p.T47T|PLEC_uc003zae.1_Silent_p.T15T|PLEC_uc003zag.1_Silent_p.T25T|PLEC_uc003zah.2_Silent_p.T33T|PLEC_uc003zaj.2_Silent_p.T74T	p.T184T	NM_201380	NP_958782	Q15149	PLEC_HUMAN			2	722	-			184			CH 1.|Globular 1.|Actin-binding.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.552C>A	CCDS43772.1																																																																																				0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		17	85	1	0	6.94e-10	1.51e-09	17	85				
TPD52L3	89882	broad.mit.edu	37	9	6328941	6328941	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:6328941G>A	ENST00000344545.5	+	1	593	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	TPD52L3_ENST00000314556.3_Missense_Mutation_p.A116T|TPD52L3_ENST00000381428.1_Missense_Mutation_p.A116T	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	116										large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		GAAGAAGTCGGCCACATTCAG	0.517																																						uc003zjw.2		NA																	0					0						c.(346-348)GCC>ACC		protein kinase NYD-SP25 isoform 1							73.0	72.0	72.0					9																	6328941		2203	4300	6503	SO:0001583	missense	89882						protein binding	g.chr9:6328941G>A	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.346G>A	9.37:g.6328941G>A	ENSP00000341677:p.Ala116Thr					TPD52L3_uc003zjv.2_Missense_Mutation_p.A116T|TPD52L3_uc003zjx.1_Missense_Mutation_p.A116T	p.A116T	NM_033516	NP_277051	Q96J77	TPD55_HUMAN		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)	1	567	+		Acute lymphoblastic leukemia(23;0.158)	116					Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Missense_Mutation	SNP	ENST00000344545.5	37	c.346G>A	CCDS34986.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036487	0.35893	.	.	ENSG00000170777	ENST00000344545;ENST00000381428;ENST00000314556	T;T;T	0.22539	1.95;1.95;1.95	4.41	1.35	0.21983	.	0.446395	0.23418	N	0.048397	T	0.22742	0.0549	L	0.60455	1.87	0.09310	N	1	P;P;B	0.40553	0.721;0.553;0.317	P;P;B	0.46629	0.476;0.522;0.267	T	0.12967	-1.0527	10	0.66056	D	0.02	-14.5477	2.6454	0.04983	0.1048:0.1772:0.5198:0.1981	.	116;116;116	Q96J77-2;Q96J77;Q96J77-3	.;TPD55_HUMAN;.	T	116	ENSP00000341677:A116T;ENSP00000370836:A116T;ENSP00000318665:A116T	ENSP00000318665:A116T	A	+	1	0	TPD52L3	6318941	0.002000	0.14202	0.130000	0.21974	0.642000	0.38348	0.205000	0.17356	0.180000	0.19960	0.511000	0.50034	GCC		0.517	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516		12	74	0	0	0	0	12	74				
TTC39B	158219	broad.mit.edu	37	9	15199906	15199906	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:15199906G>A	ENST00000512701.2	-	8	813	c.777C>T	c.(775-777)aaC>aaT	p.N259N	TTC39B_ENST00000507993.1_Silent_p.N94N|TTC39B_ENST00000355694.2_Silent_p.N193N|TTC39B_ENST00000380850.4_Silent_p.N259N|TTC39B_ENST00000507285.1_Silent_p.N94N|TTC39B_ENST00000541445.1_Intron|TTC39B_ENST00000297615.5_Silent_p.N190N			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	259										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CTTTGATGAAGTTGATCATAT	0.274																																						uc003zlr.1		NA																	0				ovary(1)	1						c.(577-579)AAC>AAT		tetratricopeptide repeat domain 39B							59.0	60.0	60.0					9																	15199906		2196	4286	6482	SO:0001819	synonymous_variant	158219						binding	g.chr9:15199906G>A	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.777C>T	9.37:g.15199906G>A						TTC39B_uc003zlq.1_Silent_p.N162N|TTC39B_uc011lmp.1_Silent_p.N94N|TTC39B_uc010mie.1_Silent_p.N191N|TTC39B_uc011lmq.1_Silent_p.N193N|TTC39B_uc011lmr.1_Silent_p.N124N|TTC39B_uc010mif.1_Silent_p.N193N|TTC39B_uc003zls.1_Silent_p.N94N|TTC39B_uc010mig.1_Silent_p.N162N|TTC39B_uc011lms.1_Intron	p.N193N	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN			8	700	-			193					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	37	c.579C>T	CCDS6477.2																																																																																				0.274	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		4	22	0	0	0	0	4	22				
ACO1	48	broad.mit.edu	37	9	32407405	32407405	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:32407405C>T	ENST00000309951.6	+	3	382	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	ACO1_ENST00000379923.1_Missense_Mutation_p.R82C|ACO1_ENST00000541043.1_5'UTR	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	82					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TAAGCCTGCTCGTGTCATCCT	0.388																																						uc003zqw.3		NA																	0					0						c.(244-246)CGT>TGT		aconitase 1							129.0	100.0	109.0					9																	32407405		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32407405C>T	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.244C>T	9.37:g.32407405C>T	ENSP00000309477:p.Arg82Cys					ACO1_uc010mjh.1_5'UTR|ACO1_uc003zqx.3_Missense_Mutation_p.R82C|ACO1_uc003zqy.3_RNA	p.R82C	NM_002197	NP_002188	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	3	399	+			82					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.244C>T	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066376	0.93898	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921	T;T	0.59224	0.28;0.28	5.44	5.44	0.79542	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	D	0.84732	0.5537	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89565	0.3809	10	0.87932	D	0	-19.8439	18.4064	0.90538	0.0:1.0:0.0:0.0	.	82	P21399	ACOC_HUMAN	C	118;82;82;82	ENSP00000309477:R82C;ENSP00000369255:R82C	ENSP00000309477:R82C	R	+	1	0	ACO1	32397405	0.999000	0.42202	0.965000	0.40720	0.995000	0.86356	3.915000	0.56409	2.720000	0.93068	0.650000	0.86243	CGT		0.388	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		9	44	0	0	0	0	9	44				
CCDC107	203260	broad.mit.edu	37	9	35658694	35658694	+	Silent	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:35658694C>G	ENST00000426546.2	+	2	294	c.228C>G	c.(226-228)gtC>gtG	p.V76V	CCDC107_ENST00000327351.2_Silent_p.V76V|CCDC107_ENST00000378409.3_Silent_p.V76V|CCDC107_ENST00000378407.3_Silent_p.V76V|ARHGEF39_ENST00000490970.1_5'Flank|RMRP_ENST00000602361.1_lincRNA|CCDC107_ENST00000421582.2_Silent_p.V76V|CCDC107_ENST00000378406.1_Silent_p.V76V	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	76						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGCGGCCGTCGCGGCTTTTG	0.731																																						uc011lox.1		NA																	0					0						c.(226-228)GTC>GTG		coiled-coil domain containing 107 precursor							10.0	14.0	13.0					9																	35658694		1949	4053	6002	SO:0001819	synonymous_variant	203260					integral to membrane		g.chr9:35658694C>G	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.228C>G	9.37:g.35658694C>G						RMRP_uc003zxh.1_5'Flank|CCDC107_uc010mkx.1_Silent_p.V76V|CCDC107_uc011loy.1_Silent_p.V76V|CCDC107_uc003zxj.2_Silent_p.V76V|CCDC107_uc003zxk.2_Silent_p.V76V	p.V76V	NM_174923	NP_777583	Q8WV48	CC107_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	294	+	all_epithelial(49;0.217)		76			Helical; (Potential).		A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Silent	SNP	ENST00000426546.2	37	c.228C>G	CCDS6583.1																																																																																				0.731	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		11	32	0	0	0	0	11	32				
PGM5	5239	broad.mit.edu	37	9	71098810	71098810	+	Missense_Mutation	SNP	C	C	T	rs201672908		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:71098810C>T	ENST00000396396.1	+	9	1554	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	442					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						GATCCCAAGACGACATATTAT	0.512																																						uc004agr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1324-1326)ACG>ATG		phosphoglucomutase 5							98.0	89.0	92.0					9																	71098810		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.chr9:71098810C>T	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.1325C>T	9.37:g.71098810C>T	ENSP00000379678:p.Thr442Met						p.T442M	NM_021965	NP_068800	Q15124	PGM5_HUMAN			9	1554	+			442					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1325C>T	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423039	0.43020	.	.	ENSG00000154330	ENST00000396396	T	0.42900	0.96	5.75	4.76	0.60689	.	0.262571	0.42548	D	0.000684	T	0.29850	0.0746	L	0.36672	1.1	0.32093	N	0.591581	B	0.33238	0.403	B	0.22880	0.042	T	0.43925	-0.9361	10	0.51188	T	0.08	.	11.6857	0.51485	0.0:0.8843:0.0:0.1157	.	442	Q15124	PGM5_HUMAN	M	442	ENSP00000379678:T442M	ENSP00000379678:T442M	T	+	2	0	PGM5	70288630	0.994000	0.37717	0.831000	0.32960	0.967000	0.64934	3.179000	0.50887	2.716000	0.92895	0.655000	0.94253	ACG		0.512	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		15	51	0	0	0	0	15	51				
SHC3	53358	broad.mit.edu	37	9	91657049	91657049	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:91657049T>C	ENST00000375835.4	-	10	1558	c.1252A>G	c.(1252-1254)Acg>Gcg	p.T418A	SHC3_ENST00000375831.1_5'UTR|SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	418	CH1.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GCTTCTCCCGTGGGGGCCACG	0.572																																						uc004aqg.2		NA																	0				lung(3)|skin(1)	4						c.(1252-1254)ACG>GCG		src homology 2 domain-containing transforming							115.0	118.0	117.0					9																	91657049		2203	4300	6503	SO:0001583	missense	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91657049T>C	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1252A>G	9.37:g.91657049T>C	ENSP00000364995:p.Thr418Ala						p.T418A	NM_016848	NP_058544	Q92529	SHC3_HUMAN			10	1559	-			418			CH1.		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	c.1252A>G	CCDS6681.1	.	.	.	.	.	.	.	.	.	.	T	2.640	-0.284368	0.05605	.	.	ENSG00000148082	ENST00000375835	T	0.27104	1.69	4.66	-9.32	0.00643	.	2.252180	0.01782	N	0.031816	T	0.07683	0.0193	N	0.01352	-0.895	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	10	0.12766	T	0.61	-18.3393	10.6124	0.45429	0.0:0.4496:0.2972:0.2532	.	418	Q92529	SHC3_HUMAN	A	418	ENSP00000364995:T418A	ENSP00000364995:T418A	T	-	1	0	SHC3	90846869	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.310000	0.08135	-1.710000	0.01397	-0.316000	0.08728	ACG		0.572	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		35	102	0	0	0	0	35	102				
SPTAN1	6709	broad.mit.edu	37	9	131367378	131367378	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:131367378G>C	ENST00000372731.4	+	30	3895	c.3785G>C	c.(3784-3786)gGa>gCa	p.G1262A	SPTAN1_ENST00000358161.5_Missense_Mutation_p.G1262A|SPTAN1_ENST00000372739.3_Missense_Mutation_p.G1262A	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1262					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GACAATTATGGACATGATCTC	0.488																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NA																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(3784-3786)GGA>GCA		spectrin, alpha, non-erythrocytic 1							99.0	88.0	92.0					9																	131367378		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131367378G>C	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3785G>C	9.37:g.131367378G>C	ENSP00000361816:p.Gly1262Ala					SPTAN1_uc011mbh.1_Missense_Mutation_p.G1274A|SPTAN1_uc004bvm.3_Missense_Mutation_p.G1262A|SPTAN1_uc004bvn.3_Missense_Mutation_p.G1242A	p.G1262A	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			30	3898	+			1262			Spectrin 14.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.3785G>C	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657748	0.67586	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.55760	1.08;0.5;0.5	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.79650	0.4482	M	0.90705	3.14	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.97110	0.995;1.0;0.994;0.997	T	0.82737	-0.0309	10	0.87932	D	0	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	1262;1242;1262;1262	A6NG51;Q13813-3;Q13813-2;Q13813	.;.;.;SPTA2_HUMAN	A	1262;1262;1262;1242	ENSP00000350882:G1262A;ENSP00000361816:G1262A;ENSP00000361824:G1262A	ENSP00000350882:G1262A	G	+	2	0	SPTAN1	130407199	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	9.869000	0.99810	2.776000	0.95493	0.655000	0.94253	GGA		0.488	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		5	42	0	0	0	0	5	42				
NOTCH1	4851	broad.mit.edu	37	9	139396213	139396213	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:139396213A>T	ENST00000277541.6	-	30	5700	c.5625T>A	c.(5623-5625)aaT>aaA	p.N1875K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1875					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCCGCGGACATTGACGTCCA	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(5623-5625)AAT>AAA		notch1 preproprotein							21.0	25.0	24.0					9																	139396213		2047	4181	6228	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139396213A>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5625T>A	9.37:g.139396213A>T	ENSP00000277541:p.Asn1875Lys	HNSCC(8;0.001)					p.N1875K	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	30	5625	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1875			Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5625T>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.118284	0.56505	.	.	ENSG00000148400	ENST00000277541	T	0.59083	0.29	4.24	-5.13	0.02884	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.60392	0.2265	M	0.89601	3.045	0.58432	D	0.999993	B	0.30146	0.27	B	0.34138	0.176	T	0.58340	-0.7653	10	0.59425	D	0.04	.	12.2937	0.54833	0.6887:0.0:0.3113:0.0	.	1875	P46531	NOTC1_HUMAN	K	1875	ENSP00000277541:N1875K	ENSP00000277541:N1875K	N	-	3	2	NOTCH1	138516034	0.292000	0.24362	0.915000	0.36163	0.845000	0.48019	-0.307000	0.08167	-1.011000	0.03391	-0.414000	0.06135	AAT		0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	29	0	0	0	0	7	29				
FANCB	2187	broad.mit.edu	37	X	14861944	14861944	+	Silent	SNP	A	A	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:14861944A>C	ENST00000324138.3	-	9	2478	c.2325T>G	c.(2323-2325)tcT>tcG	p.S775S	FANCB_ENST00000398334.1_Silent_p.S775S	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	775					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TAGCTATGGCAGAAGAAAGAG	0.383								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc004cwg.1		NA																	0				lung(1)	1						c.(2323-2325)TCT>TCG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group B							105.0	96.0	99.0					X																	14861944		2203	4299	6502	SO:0001819	synonymous_variant	2187	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14861944A>C	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.2325T>G	X.37:g.14861944A>C						FANCB_uc004cwh.1_Silent_p.S775S	p.S775S	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN			10	2593	-	Hepatocellular(33;0.183)		775					B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	ENST00000324138.3	37	c.2325T>G	CCDS14161.1																																																																																				0.383	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		14	71	0	0	0	0	14	71				
LANCL3	347404	broad.mit.edu	37	X	37431412	37431412	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:37431412A>T	ENST00000378619.3	+	1	508	c.289A>T	c.(289-291)Aag>Tag	p.K97*	LANCL3_ENST00000378621.3_Nonsense_Mutation_p.K97*|TM4SF2_ENST00000465127.1_Intron	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	97							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						GCGCTCGGCTAAGCGCCTCAT	0.716																																						uc011mkd.1		NA																	0					0						c.(289-291)AAG>TAG		LanC lantibiotic synthetase component C-like 3							9.0	8.0	8.0					X																	37431412		2109	4061	6170	SO:0001587	stop_gained	347404						catalytic activity	g.chrX:37431412A>T	AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.289A>T	X.37:g.37431412A>T	ENSP00000367882:p.Lys97*					LANCL3_uc004ddp.1_Nonsense_Mutation_p.K97*	p.K97*	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN			1	591	+			97					A6NHE3	Nonsense_Mutation	SNP	ENST00000378619.3	37	c.289A>T	CCDS55398.1	.	.	.	.	.	.	.	.	.	.	A	40	8.044913	0.98627	.	.	ENSG00000147036	ENST00000378621;ENST00000378619	.	.	.	4.62	3.47	0.39725	.	0.150822	0.44285	D	0.000476	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-16.9995	5.4742	0.16686	0.6507:0.2492:0.1001:0.0	.	.	.	.	X	97	.	ENSP00000367882:K97X	K	+	1	0	LANCL3	37316331	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	3.576000	0.53878	1.513000	0.48852	0.388000	0.25769	AAG		0.716	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080885.1	NM_198511		4	13	0	0	0	0	4	13				
LANCL3	347404	broad.mit.edu	37	X	37431414	37431414	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:37431414G>A	ENST00000378619.3	+	1	510	c.291G>A	c.(289-291)aaG>aaA	p.K97K	LANCL3_ENST00000378621.3_Silent_p.K97K|TM4SF2_ENST00000465127.1_Intron	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	97							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						GCTCGGCTAAGCGCCTCATCG	0.716																																						uc011mkd.1		NA																	0					0						c.(289-291)AAG>AAA		LanC lantibiotic synthetase component C-like 3							9.0	8.0	8.0					X																	37431414		2119	4088	6207	SO:0001819	synonymous_variant	347404						catalytic activity	g.chrX:37431414G>A	AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.291G>A	X.37:g.37431414G>A						LANCL3_uc004ddp.1_Silent_p.K97K	p.K97K	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN			1	593	+			97					A6NHE3	Silent	SNP	ENST00000378619.3	37	c.291G>A	CCDS55398.1																																																																																				0.716	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080885.1	NM_198511		4	13	0	0	0	0	4	13				
SUV39H1	6839	broad.mit.edu	37	X	48564736	48564736	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:48564736C>A	ENST00000376687.3	+	4	1099	c.909C>A	c.(907-909)taC>taA	p.Y303*	SUV39H1_ENST00000482260.1_3'UTR|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Nonsense_Mutation_p.Y314*|SUV39H1_ENST00000453214.2_Missense_Mutation_p.T151K	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	303	Mediates interaction with MECOM. {ECO:0000250}.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.Y303Y(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ACCTGGACTACGTGGAGGACG	0.612																																						uc004dkn.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(907-909)TAC>TAA		suppressor of variegation 3-9 homolog 1							81.0	70.0	74.0					X																	48564736		2203	4300	6503	SO:0001587	stop_gained	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48564736C>A	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.909C>A	X.37:g.48564736C>A	ENSP00000365877:p.Tyr303*					SUV39H1_uc011mmf.1_Nonsense_Mutation_p.Y314*|SUV39H1_uc011mmg.1_RNA	p.Y303*	NM_003173	NP_003164	O43463	SUV91_HUMAN			4	954	+			303			Mediates interaction with MECOM (By similarity).|SET.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Nonsense_Mutation	SNP	ENST00000376687.3	37	c.909C>A	CCDS14304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.095924|7.095924	0.98059|0.98059	.|.	.|.	ENSG00000101945|ENSG00000101945	ENST00000453214|ENST00000337852;ENST00000376687;ENST00000448548	.|.	.|.	.|.	4.39|4.39	-1.02|-1.02	0.10135|0.10135	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|.	0.12689|.	0.0308|.	.|.	.|.	.|.	0.25177|0.25177	N|N	0.990238|0.990238	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35325|.	-0.9793|.	4|.	.|0.02654	.|T	.|1	.|.	9.3376|9.3376	0.38060|0.38060	0.0:0.3157:0.0:0.6843|0.0:0.3157:0.0:0.6843	.|.	.|.	.|.	.|.	K|X	151|314;303;299	.|.	.|ENSP00000337976:Y314X	T|Y	+|+	2|3	0|2	SUV39H1|SUV39H1	48449680|48449680	0.004000|0.004000	0.15560|0.15560	0.984000|0.984000	0.44739|0.44739	0.936000|0.936000	0.57629|0.57629	-1.181000|-1.181000	0.03085|0.03085	-0.677000|-0.677000	0.05231|0.05231	0.287000|0.287000	0.19450|0.19450	ACG|TAC		0.612	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		13	69	1	0	6.32e-08	1.34e-07	13	69				
FOXR2	139628	broad.mit.edu	37	X	55650595	55650595	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:55650595G>A	ENST00000339140.3	+	1	763	c.451G>A	c.(451-453)Gac>Aac	p.D151N		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	151					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TTCCCCCAGTGACTTTGAGCT	0.502																																						uc004duo.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(451-453)GAC>AAC		forkhead box R2							71.0	62.0	65.0					X																	55650595		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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	g.chrX:55650595G>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.451G>A	X.37:g.55650595G>A	ENSP00000427329:p.Asp151Asn						p.D151N	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			1	763	+			151						Missense_Mutation	SNP	ENST00000339140.3	37	c.451G>A	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	G	2.263	-0.368725	0.05069	.	.	ENSG00000189299	ENST00000339140	D	0.94046	-3.34	3.19	-6.15	0.02105	.	3.379470	0.00728	N	0.000938	D	0.82504	0.5051	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.77140	-0.2697	10	0.14656	T	0.56	.	11.8792	0.52564	0.7525:0.0:0.2475:0.0	.	151	Q6PJQ5	FOXR2_HUMAN	N	151	ENSP00000427329:D151N	ENSP00000427329:D151N	D	+	1	0	FOXR2	55667320	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.947000	0.03901	-2.184000	0.00762	-0.190000	0.12839	GAC		0.502	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		9	54	0	0	0	0	9	54				
VSIG4	11326	broad.mit.edu	37	X	65253341	65253341	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:65253341C>A	ENST00000374737.4	-	2	495	c.387G>T	c.(385-387)aaG>aaT	p.K129N	VSIG4_ENST00000412866.2_Missense_Mutation_p.K129N|VSIG4_ENST00000455586.2_Missense_Mutation_p.K129N	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	129	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCAGTAATCTTATCTCTCA	0.473																																						uc004dwh.2		NA																	0					0						c.(385-387)AAG>AAT		V-set and immunoglobulin domain containing 4							136.0	121.0	126.0					X																	65253341		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253341C>A	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.387G>T	X.37:g.65253341C>A	ENSP00000363869:p.Lys129Asn					VSIG4_uc004dwi.2_Missense_Mutation_p.K129N|VSIG4_uc010nkq.1_Missense_Mutation_p.K129N|VSIG4_uc004dwj.2_Missense_Mutation_p.K129N|VSIG4_uc011moy.1_Missense_Mutation_p.K129N|VSIG4_uc004dwk.2_Missense_Mutation_p.K129N|VSIG4_uc004dwl.2_Missense_Mutation_p.K25N	p.K129N	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN			2	514	-			129			Ig-like 1.|Extracellular (Potential).		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.387G>T	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.09|11.09	1.536153|1.536153	0.27475|0.27475	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000427538|ENST00000374737;ENST00000455586;ENST00000412866	.|T;T;T	.|0.65549	.|-0.16;-0.16;-0.16	4.76|4.76	0.521|0.521	0.17046|0.17046	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.525534	.|0.18100	.|N	.|0.151720	T|T	0.65790|0.65790	0.2725|0.2725	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|P;D;D;P;D	.|0.76494	.|0.754;0.994;0.999;0.926;0.995	.|B;P;D;B;P	.|0.67900	.|0.223;0.859;0.954;0.26;0.882	T|T	0.54410|0.54410	-0.8298|-0.8298	5|10	.|0.20519	.|T	.|0.43	-17.0544|-17.0544	4.8792|4.8792	0.13670|0.13670	0.0:0.5135:0.2698:0.2167|0.0:0.5135:0.2698:0.2167	.|.	.|129;129;119;129;129	.|C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.|.;.;.;.;VSIG4_HUMAN	Y|N	56|129	.|ENSP00000363869:K129N;ENSP00000411581:K129N;ENSP00000394143:K129N	.|ENSP00000363869:K129N	D|K	-|-	1|3	0|2	VSIG4|VSIG4	65170066|65170066	0.015000|0.015000	0.18098|0.18098	0.965000|0.965000	0.40720|0.40720	0.128000|0.128000	0.20619|0.20619	-0.080000|-0.080000	0.11339|0.11339	0.296000|0.296000	0.22592|0.22592	0.513000|0.513000	0.50165|0.50165	GAT|AAG		0.473	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		28	121	1	0	1.16e-09	2.51e-09	28	121				
ZMYM3	9203	broad.mit.edu	37	X	70461117	70461117	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:70461117G>A	ENST00000353904.2	-	24	4067	c.3880C>T	c.(3880-3882)Cgc>Tgc	p.R1294C	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1294C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1296C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1204C|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R1282C	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1294					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACAGGGCAGCGGAGGGGATTC	0.507																																						uc004dzh.1		NA																	0				ovary(1)	1						c.(3880-3882)CGC>TGC		zinc finger protein 261							127.0	102.0	110.0					X																	70461117		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70461117G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3880C>T	X.37:g.70461117G>A	ENSP00000343909:p.Arg1294Cys					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.R1294C|ZMYM3_uc004dzj.1_Missense_Mutation_p.R1282C	p.R1294C	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			24	3967	-	Renal(35;0.156)		1294					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3880C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.322604	0.81580	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.61510	0.68;0.1;0.68;0.9;0.67	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000003	T	0.75539	0.3863	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.79298	-0.1861	10	0.87932	D	0	-11.9563	17.1082	0.86669	0.0:0.0:1.0:0.0	.	1282;1294	Q14202-2;Q14202	.;ZMYM3_HUMAN	C	1294;1282;1294;1204;1296	ENSP00000322845:R1294C;ENSP00000363110:R1282C;ENSP00000343909:R1294C;ENSP00000363096:R1204C;ENSP00000363100:R1296C	ENSP00000322845:R1294C	R	-	1	0	ZMYM3	70377842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.013000	0.64023	2.218000	0.71995	0.594000	0.82650	CGC		0.507	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		5	39	0	0	0	0	5	39				
ERCC6L	54821	broad.mit.edu	37	X	71425660	71425660	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:71425660G>C	ENST00000334463.3	-	2	3092	c.2957C>G	c.(2956-2958)cCt>cGt	p.P986R	ERCC6L_ENST00000373657.1_Missense_Mutation_p.P863R|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	986					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TCTGGAATTAGGTGCAGAGCC	0.393																																						uc004eaq.1		NA																	0				ovary(3)	3						c.(2956-2958)CCT>CGT		excision repair protein ERCC6-like							96.0	90.0	92.0					X																	71425660		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71425660G>C	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2957C>G	X.37:g.71425660G>C	ENSP00000334675:p.Pro986Arg					PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.P863R	p.P986R	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN			2	3054	-	Renal(35;0.156)		986					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.2957C>G	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	G	4.391	0.072220	0.08436	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.90324	-2.63;-2.65	5.58	0.159	0.14968	.	.	.	.	.	T	0.75339	0.3836	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.61821	-0.6984	9	0.35671	T	0.21	-0.4359	0.742	0.00975	0.2585:0.1292:0.3761:0.2363	.	986	Q2NKX8	ERC6L_HUMAN	R	863;986	ENSP00000362761:P863R;ENSP00000334675:P986R	ENSP00000334675:P986R	P	-	2	0	ERCC6L	71342385	0.000000	0.05858	0.000000	0.03702	0.453000	0.32348	0.552000	0.23376	0.163000	0.19507	0.594000	0.82650	CCT		0.393	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		30	59	0	0	0	0	30	59				
ARMCX3	51566	broad.mit.edu	37	X	100879979	100879979	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:100879979G>A	ENST00000341189.4	+	5	876	c.10G>A	c.(10-12)Gcc>Acc	p.A4T	ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000537169.1_Missense_Mutation_p.A4T|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000471229.2_Missense_Mutation_p.A4T	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	4					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						CATGGGCTACGCCAGGAAAGT	0.557																																						uc004ehz.1		NA																	0				ovary(1)|lung(1)	2						c.(10-12)GCC>ACC		armadillo repeat containing, X-linked 3							71.0	69.0	70.0					X																	100879979		2203	4300	6503	SO:0001583	missense	51566					integral to membrane	binding	g.chrX:100879979G>A	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.10G>A	X.37:g.100879979G>A	ENSP00000340672:p.Ala4Thr					ARMCX3_uc004eia.1_Missense_Mutation_p.A4T|ARMCX3_uc004eib.1_Missense_Mutation_p.A4T|ARMCX3_uc004eic.1_Missense_Mutation_p.A4T	p.A4T	NM_016607	NP_057691	Q9UH62	ARMX3_HUMAN			5	543	+			4					Q53HC6|Q7LCF5|Q9NPE4	Missense_Mutation	SNP	ENST00000341189.4	37	c.10G>A	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	G	8.164	0.790270	0.16258	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.27720	1.65;1.65	4.2	4.2	0.49525	.	0.619837	0.16882	N	0.195657	T	0.12902	0.0313	N	0.12182	0.205	0.31493	N	0.66576	P	0.35011	0.48	B	0.17979	0.02	T	0.07366	-1.0776	10	0.12766	T	0.61	-2.6452	10.8919	0.47000	0.0:0.0:1.0:0.0	.	4	Q9UH62	ARMX3_HUMAN	T	4	ENSP00000340672:A4T;ENSP00000439032:A4T	ENSP00000340672:A4T	A	+	1	0	ARMCX3	100766635	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.169000	0.58223	2.336000	0.79503	0.594000	0.82650	GCC		0.557	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		15	80	0	0	0	0	15	80				
NXF5	55998	broad.mit.edu	37	X	101095787	101095787	+	Silent	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:101095787G>C	ENST00000361708.2	-	9	920	c.561C>G	c.(559-561)gtC>gtG	p.V187V	NXF5_ENST00000473265.2_Silent_p.V187V|NXF5_ENST00000537026.1_Silent_p.V187V			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	187					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCAGGGTCTTGACTTTGGGAG	0.478																																						uc011mrk.1		NA																	0				central_nervous_system(1)	1						c.(559-561)GTC>GTG		nuclear RNA export factor 5							32.0	31.0	32.0					X																	101095787		1618	3314	4932	SO:0001819	synonymous_variant	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101095787G>C	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.561C>G	X.37:g.101095787G>C						NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	p.V187V	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			9	921	-			187			LRR 2.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Silent	SNP	ENST00000361708.2	37	c.561C>G																																																																																					0.478	NXF5-201	KNOWN	basic	protein_coding	protein_coding				5	44	0	0	0	0	5	44				
NXF3	56000	broad.mit.edu	37	X	102337969	102337969	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:102337969C>T	ENST00000395065.3	-	7	755	c.654G>A	c.(652-654)caG>caA	p.Q218Q	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Silent_p.Q129Q	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	218					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAAGAGCTTCCTGGGAGACAT	0.498																																						uc004eju.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(652-654)CAG>CAA		nuclear RNA export factor 3							209.0	201.0	204.0					X																	102337969		2203	4300	6503	SO:0001819	synonymous_variant	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102337969C>T	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.654G>A	X.37:g.102337969C>T						NXF3_uc010noi.1_Silent_p.Q68Q|NXF3_uc011mrw.1_Silent_p.Q218Q|NXF3_uc011mrx.1_Silent_p.Q129Q	p.Q218Q	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN			7	725	-			218					B4DYS7|Q5H9I1|Q9H1A9	Silent	SNP	ENST00000395065.3	37	c.654G>A	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	C	1.681	-0.506491	0.04231	.	.	ENSG00000147206	ENST00000427570	.	.	.	3.57	0.746	0.18365	.	.	.	.	.	T	0.23492	0.0568	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24119	-1.0169	4	.	.	.	0.9863	3.4647	0.07545	0.0:0.5323:0.2106:0.2571	.	.	.	.	R	95	.	.	G	-	1	0	NXF3	102224625	0.564000	0.26602	0.000000	0.03702	0.018000	0.09664	0.467000	0.22035	0.032000	0.15435	0.556000	0.70494	GGA		0.498	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		33	308	0	0	0	0	33	308				
HTR2C	3358	broad.mit.edu	37	X	114141460	114141460	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:114141460C>T	ENST00000276198.1	+	6	1587	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	HTR2C_ENST00000371951.1_Missense_Mutation_p.R287C|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	287					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCAGAACGCACGCCGAAGAAA	0.493																																						uc004epu.1		NA																	0				ovary(3)	3						c.(859-861)CGC>TGC		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						133.0	125.0	127.0					X																	114141460		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141460C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.859C>T	X.37:g.114141460C>T	ENSP00000276198:p.Arg287Cys					HTR2C_uc010nqc.1_Missense_Mutation_p.R287C|HTR2C_uc004epv.1_3'UTR	p.R287C	NM_000868	NP_000859	P28335	5HT2C_HUMAN			6	1587	+			287			Cytoplasmic (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.859C>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336245	0.24253	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.40476	1.03;1.03	4.51	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	1.207260	0.05817	N	0.615055	T	0.57417	0.2052	L	0.58925	1.835	0.21984	N	0.99943	D	0.71674	0.998	D	0.63488	0.915	T	0.29027	-1.0025	10	0.56958	D	0.05	.	6.9821	0.24708	0.0:0.7236:0.1734:0.103	.	287	P28335	5HT2C_HUMAN	C	287	ENSP00000276198:R287C;ENSP00000361019:R287C	ENSP00000276198:R287C	R	+	1	0	HTR2C	114047716	0.033000	0.19621	0.009000	0.14445	0.197000	0.23852	1.011000	0.29911	0.451000	0.26802	0.468000	0.43344	CGC		0.493	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		20	141	0	0	0	0	20	141				
PGRMC1	10857	broad.mit.edu	37	X	118370576	118370576	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:118370576G>A	ENST00000217971.7	+	1	361	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	PGRMC1_ENST00000535419.1_Missense_Mutation_p.V84I	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	84	Cytochrome b5 heme-binding.				axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)			lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	CTTCGACGGCGTCCAGGACCC	0.721																																						uc004erb.2		NA																	0					0						c.(250-252)GTC>ATC		progesterone receptor membrane component 1							9.0	10.0	10.0					X																	118370576		2165	4245	6410	SO:0001583	missense	10857					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding	g.chrX:118370576G>A		CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.250G>A	X.37:g.118370576G>A	ENSP00000217971:p.Val84Ile					PGRMC1_uc011mts.1_Missense_Mutation_p.V84I	p.V84I	NM_006667	NP_006658	O00264	PGRC1_HUMAN			1	366	+			84			Cytochrome b5 heme-binding.|Cytoplasmic (Potential).		B7Z1L3|Q9UGJ9	Missense_Mutation	SNP	ENST00000217971.7	37	c.250G>A	CCDS14576.1	.	.	.	.	.	.	.	.	.	.	.	12.90	2.075286	0.36662	.	.	ENSG00000101856	ENST00000217971;ENST00000535419	T;T	0.76316	-1.01;-1.01	5.04	3.96	0.45880	Cytochrome b5 (3);	0.543822	0.19181	N	0.120698	T	0.63710	0.2534	L	0.31476	0.935	0.28169	N	0.928632	B;B	0.24483	0.104;0.104	B;B	0.22753	0.041;0.015	T	0.54510	-0.8283	10	0.32370	T	0.25	-10.4228	8.2823	0.31908	0.1077:0.1623:0.73:0.0	.	84;84	B7Z1L3;O00264	.;PGRC1_HUMAN	I	84	ENSP00000217971:V84I;ENSP00000442821:V84I	ENSP00000217971:V84I	V	+	1	0	PGRMC1	118254604	0.636000	0.27207	1.000000	0.80357	0.993000	0.82548	0.952000	0.29149	2.070000	0.61991	0.523000	0.50628	GTC		0.721	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058024.1	NM_006667		4	30	0	0	0	0	4	30				
TENM1	10178	broad.mit.edu	37	X	123518065	123518065	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:123518065C>G	ENST00000371130.3	-	29	6758	c.6695G>C	c.(6694-6696)gGc>gCc	p.G2232A	TENM1_ENST00000422452.2_Missense_Mutation_p.G2239A|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2232					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTGCAGCAGGCCATTAGAATT	0.463																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(6694-6696)GGC>GCC		odz, odd Oz/ten-m homolog 1 isoform 3							51.0	49.0	50.0					X																	123518065		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123518065C>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6695G>C	X.37:g.123518065C>G	ENSP00000360171:p.Gly2232Ala					ODZ1_uc011muj.1_Missense_Mutation_p.G2238A|ODZ1_uc010nqy.2_Missense_Mutation_p.G2239A	p.G2232A	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			29	6759	-			2232			YD 20.|Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6695G>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859207	0.71834	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.89050	-2.46;-2.46	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.95456	0.8524	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.996;0.997;0.987	D	0.95713	0.8759	10	0.72032	D	0.01	.	19.1445	0.93459	0.0:1.0:0.0:0.0	.	2238;2239;2232	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	A	2232;2239	ENSP00000360171:G2232A;ENSP00000403954:G2239A	ENSP00000360171:G2232A	G	-	2	0	ODZ1	123345746	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	7.818000	0.86416	2.471000	0.83476	0.600000	0.82982	GGC		0.463	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		9	82	0	0	0	0	9	82				
MAGEA4	4103	broad.mit.edu	37	X	151092703	151092703	+	Silent	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:151092703C>G	ENST00000360243.2	+	3	834	c.567C>G	c.(565-567)ggC>ggG	p.G189G	MAGEA4_ENST00000276344.2_Silent_p.G189G|MAGEA4_ENST00000370340.3_Silent_p.G189G|MAGEA4_ENST00000393921.1_Silent_p.G189G|MAGEA4_ENST00000393920.1_Silent_p.G189G|MAGEA4_ENST00000370335.1_Silent_p.G189G|MAGEA4_ENST00000370337.4_Silent_p.G189G	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	189	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATGATGGCCTGCTGGGTA	0.537																																						uc004fez.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(565-567)GGC>GGG		melanoma antigen family A, 4							98.0	100.0	99.0					X																	151092703		2203	4300	6503	SO:0001819	synonymous_variant	4103						protein binding	g.chrX:151092703C>G		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.567C>G	X.37:g.151092703C>G						MAGEA4_uc004ffa.2_Silent_p.G189G|MAGEA4_uc004ffb.2_Silent_p.G189G|MAGEA4_uc004ffc.2_Silent_p.G189G|MAGEA4_uc004ffd.2_Silent_p.G189G	p.G189G	NM_002362	NP_002353	P43358	MAGA4_HUMAN			3	723	+	Acute lymphoblastic leukemia(192;6.56e-05)		189			MAGE.		Q14798	Silent	SNP	ENST00000360243.2	37	c.567C>G	CCDS14702.1																																																																																				0.537	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		15	161	0	0	0	0	15	161				
MPP1	4354	broad.mit.edu	37	X	154013398	154013398	+	Missense_Mutation	SNP	C	C	T	rs146674414		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:154013398C>T	ENST00000369534.3	-	7	859	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	MPP1_ENST00000462825.1_5'UTR|MPP1_ENST00000413259.3_Missense_Mutation_p.E208K|MPP1_ENST00000393531.1_Missense_Mutation_p.E218K	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	238					nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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)					CTCGGGGCTTCGCTAGGAGCT	0.552																																						uc004fmp.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(712-714)GAA>AAA		palmitoylated membrane protein 1		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,3834		0,1,1631,571	91.0	76.0	81.0		661,652,622,712	4.7	0.0	X	dbSNP_134	81	0,6728		0,0,2428,1872	no	missense,missense,missense,missense	MPP1	NM_001166460.1,NM_001166461.1,NM_001166462.1,NM_002436.3	56,56,56,56	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign,benign,benign,benign	221/450,218/447,208/437,238/467	154013398	1,10562	2203	4300	6503	SO:0001583	missense	4354				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154013398C>T		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.712G>A	X.37:g.154013398C>T	ENSP00000358547:p.Glu238Lys					MPP1_uc010nvg.1_Missense_Mutation_p.E218K|MPP1_uc011mzv.1_Missense_Mutation_p.E208K|MPP1_uc004fmq.1_Missense_Mutation_p.E192K|MPP1_uc011mzw.1_Missense_Mutation_p.E221K|MPP1_uc010nvh.1_Missense_Mutation_p.E112K	p.E238K	NM_002436	NP_002427	Q00013	EM55_HUMAN			7	827	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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)		238					B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	c.712G>A	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	C	4.140	0.024399	0.08054	2.61E-4	0.0	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531;ENST00000453245;ENST00000393529;ENST00000428488	D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.56	4.69	0.59074	Src homology-3 domain (1);	0.102042	0.64402	D	0.000004	T	0.66257	0.2771	N	0.17800	0.525	0.09310	N	1	B;B;P;B;B	0.36412	0.031;0.425;0.552;0.04;0.425	B;B;B;B;B	0.24701	0.015;0.048;0.055;0.021;0.048	T	0.60682	-0.7215	10	0.54805	T	0.06	.	8.1437	0.31100	0.0:0.7587:0.1544:0.0869	.	221;208;112;218;238	B4E325;B4DZV5;C9J9J4;G3XAI1;Q00013	.;.;.;.;EM55_HUMAN	K	238;208;218;112;192;135	ENSP00000358547:E238K;ENSP00000400155:E208K;ENSP00000377165:E218K;ENSP00000410888:E112K;ENSP00000377163:E192K;ENSP00000391701:E135K	ENSP00000358547:E238K	E	-	1	0	MPP1	153666592	0.993000	0.37304	0.009000	0.14445	0.333000	0.28666	2.520000	0.45554	1.103000	0.41568	-0.192000	0.12808	GAA		0.552	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		4	25	0	0	0	0	4	25				
F8	2157	broad.mit.edu	37	X	154159320	154159320	+	Silent	SNP	T	T	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:154159320T>G	ENST00000360256.4	-	14	2945	c.2745A>C	c.(2743-2745)gcA>gcC	p.A915A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	915	B.				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)	TATCAGTACCTGCTGCCAAAT	0.378																																						uc004fmt.2		NA																	0				ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(2743-2745)GCA>GCC		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						60.0	58.0	58.0					X																	154159320		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:154159320T>G	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.2745A>C	X.37:g.154159320T>G							p.A915A	NM_000132	NP_000123	P00451	FA8_HUMAN			14	2916	-	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)		915			B.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.2745A>C	CCDS35457.1																																																																																				0.378	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			5	82	0	0	0	0	5	82				
ITGB3	3690	broad.mit.edu	37	17	45361893	45361893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:45361893delC	ENST00000559488.1	+	4	462	c.446delC	c.(445-447)tccfs	p.S149fs	ITGB3_ENST00000560629.1_Frame_Shift_Del_p.L137fs|ITGB3_ENST00000435993.2_Frame_Shift_Del_p.S102fs|ITGB3_ENST00000571680.1_Frame_Shift_Del_p.S149fs	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	149	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CTGTCTTACTCCATGAAGGAT	0.512																																						uc002ilj.2		NA																	0				central_nervous_system(5)|large_intestine(1)	6						c.(445-447)TCCfs		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)						109.0	97.0	101.0					17																	45361893		2203	4300	6503	SO:0001589	frameshift_variant	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45361893delC		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.446delC	17.37:g.45361893delC	ENSP00000452786:p.Ser149fs					ITGB3_uc002ili.1_Frame_Shift_Del_p.S149fs|ITGB3_uc010wkr.1_RNA	p.S149fs	NM_000212	NP_000203	P05106	ITB3_HUMAN			4	466	+			149			VWFA.|Extracellular (Potential).		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Frame_Shift_Del	DEL	ENST00000559488.1	37	c.446delC	CCDS11511.1																																																																																				0.512	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		29	62	NA	NA	NA	NA	29	62	---	---	---	---
ZNF654	55279	broad.mit.edu	37	3	88188748	88188750	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:88188748_88188750delTAC	ENST00000309495.5	+	1	495_497	c.288_290delTAC	c.(286-291)cttact>ctt	p.T97del	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	97					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(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGGAGACACTTACTGCTTCTAGT	0.355																																						uc003dqv.2		NA																	0				ovary(1)	1						c.(286-291)CTTACT>CTT		zinc finger protein 654																																				SO:0001651	inframe_deletion	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88188748_88188750delTAC	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.288_290delTAC	3.37:g.88188748_88188750delTAC	ENSP00000312141:p.Thr97del					CGGBP1_uc003dqu.2_Intron	p.T97del	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	487_489	+		Lung NSC(201;0.0283)	97					Q9H791|Q9NV14	In_Frame_Del	DEL	ENST00000309495.5	37	c.288_290delTAC	CCDS46874.1																																																																																				0.355	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		12	32	NA	NA	NA	NA	12	32	---	---	---	---
DOK7	285489	broad.mit.edu	37	4	3494760	3494783	+	In_Frame_Del	DEL	CAGCAGCCTCTCGTCCTACGCGGG	CAGCAGCCTCTCGTCCTACGCGGG	-	rs368512847|rs372407972|rs200284964	byFrequency	TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:3494760_3494783delCAGCAGCCTCTCGTCCTACGCGGG	ENST00000340083.5	+	7	1112_1135	c.1047_1070delCAGCAGCCTCTCGTCCTACGCGGG	c.(1045-1071)tccagcagcctctcgtcctacgcgggc>tcc	p.SSLSSYAG350del	DOK7_ENST00000389653.2_In_Frame_Del_p.SSLSSYAG350del|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	350	Ser-rich.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)	p.A356V(1)		kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCTTACTCCAGCAGCCTCTCGTCCTACGCGGGCAGCAGCCTG	0.714																																						uc003ghd.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	skin(1)	1						c.(1045-1071)TCCAGCAGCCTCTCGTCCTACGCGGGC>TCC		downstream of tyrosine kinase 7 isoform 1																																				SO:0001651	inframe_deletion	285489				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding	g.chr4:3494760_3494783delCAGCAGCCTCTCGTCCTACGCGGG	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1047_1070delCAGCAGCCTCTCGTCCTACGCGGG	4.37:g.3494760_3494783delCAGCAGCCTCTCGTCCTACGCGGG	ENSP00000344432:p.Ser350_Gly357del					DOK7_uc003ghe.2_In_Frame_Del_p.SSLSSYAG212del|DOK7_uc003ghf.2_In_Frame_Del_p.AASRPTRA92del|DOK7_uc003ghg.1_In_Frame_Del_p.SSLSSYAG40del	p.SSLSSYAG350del	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	7	1117_1140	+			350_357			Ser-rich.		A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	In_Frame_Del	DEL	ENST00000340083.5	37	c.1047_1070delCAGCAGCCTCTCGTCCTACGCGGG	CCDS3370.2																																																																																				0.714	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		3	5	NA	NA	NA	NA	3	5	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153259045	153259046	+	Frame_Shift_Ins	INS	-	-	TGAGT			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:153259045_153259046insTGAGT	ENST00000281708.4	-	5	1998_1999	c.769_770insACTCA	c.(769-771)attfs	p.I257fs	FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.I257fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.I177fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.I81fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.I139fs|RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.I257fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	257					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACAACTATCAATGAGTTCATCT	0.356			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NA		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		1	Unknown(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(769-771)ATTfs		F-box and WD repeat domain containing 7 isoform																																				SO:0001589	frameshift_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153259045_153259046insTGAGT	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.765_769dupACTCA	4.37:g.153259046_153259050dupTGAGT	ENSP00000281708:p.Ile257fs					FBXW7_uc011cii.1_Frame_Shift_Ins_p.I257fs|FBXW7_uc003imt.2_Frame_Shift_Ins_p.I257fs|FBXW7_uc011cih.1_Frame_Shift_Ins_p.I81fs|FBXW7_uc003imq.2_Frame_Shift_Ins_p.I177fs|FBXW7_uc003imr.2_Frame_Shift_Ins_p.I139fs	p.I257fs	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			5	918_919	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	257					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Ins	INS	ENST00000281708.4	37	c.769_770insACTCA	CCDS3777.1																																																																																				0.356	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			14	40	NA	NA	NA	NA	14	40	---	---	---	---
