#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
AGRN	375790	broad.mit.edu	37	1	978800	978800	+	Silent	SNP	C	C	T	rs375687903		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:978800C>T	ENST00000379370.2	+	8	1616	c.1566C>T	c.(1564-1566)ctC>ctT	p.L522L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	522	Kazal-like 5. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCTGTACCCTCGGGCGGGAGA	0.682																																						uc001ack.1		NA																	0				central_nervous_system(2)|breast(1)	3						c.(1564-1566)CTC>CTT		agrin precursor		C		0,4374		0,0,2187	35.0	35.0	35.0		1566	-7.6	0.1	1		35	2,8588		0,2,4293	no	coding-synonymous	AGRN	NM_198576.3		0,2,6480	TT,TC,CC		0.0233,0.0,0.0154		522/2046	978800	2,12962	2187	4295	6482	SO:0001819	synonymous_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:978800C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1566C>T	1.37:g.978800C>T							p.L522L	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	8	1616	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	522			Kazal-like 5.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.1566C>T	CCDS30551.1																																																																																				0.682	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		5	16	0	0	0	0	5	16				
PER3	8863	broad.mit.edu	37	1	7896001	7896001	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:7896001G>C	ENST00000361923.2	+	19	3542	c.3367G>C	c.(3367-3369)Gag>Cag	p.E1123Q	PER3_ENST00000377532.3_Missense_Mutation_p.E1132Q	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1123	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTACCTGAGAGGTAAGA	0.413																																						uc001aoo.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3367-3369)GAG>CAG		period 3							54.0	52.0	52.0					1																	7896001		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7896001G>C	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3367G>C	1.37:g.7896001G>C	ENSP00000355031:p.Glu1123Gln					PER3_uc001aop.2_Missense_Mutation_p.E1132Q|PER3_uc010nzw.1_Missense_Mutation_p.E812Q	p.E1123Q	NM_016831	NP_058515	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	19	3542	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1123			CRY binding domain (By similarity).		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.3367G>C	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197568	0.58126	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.15017	2.46;2.46	3.98	3.98	0.46160	Period circadian-like, C-terminal (1);	0.567345	0.18267	N	0.146423	T	0.28599	0.0708	L	0.52573	1.65	0.21933	N	0.99947	D;D;D	0.65815	0.993;0.994;0.995	D;P;P	0.63192	0.912;0.827;0.892	T	0.04650	-1.0936	10	0.27082	T	0.32	.	9.5418	0.39257	0.1031:0.0:0.8969:0.0	.	172;1132;1123	B4DR65;P56645-2;P56645	.;.;PER3_HUMAN	Q	1132;1123;316	ENSP00000366755:E1132Q;ENSP00000355031:E1123Q	ENSP00000355031:E1123Q	E	+	1	0	PER3	7818588	0.265000	0.24102	0.899000	0.35326	0.991000	0.79684	0.807000	0.27140	2.052000	0.61016	0.557000	0.71058	GAG		0.413	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		4	39	0	0	0	0	4	39				
Unknown	0	broad.mit.edu	37	1	13183780	13183780	+	IGR	SNP	A	A	C	rs116484938	byFrequency	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:13183780A>C								RP13-221M14.3 (19312 upstream) : PRAMEF26 (32575 downstream)																							CCTCCACATCAGATTTCTTGA	0.468																																						uc010obg.1		NA																	0					0						c.(91-93)TCT>TCG		heterogeneous nuclear ribonucleoprotein C-like							60.0	43.0	48.0					1																	13183780		690	1587	2277	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183780A>C																													1.37:g.13183780A>C							p.S31S	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	188	-			31						Silent	SNP		37	c.93T>G																																																																																				0	0.468									4	54	0	0	0	0	4	54				
FBXO42	54455	broad.mit.edu	37	1	16641805	16641805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:16641805C>G	ENST00000375592.3	-	2	325	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	37										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TCCTCAGCCTCCAATACTGGG	0.498																																						uc001ayg.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(109-111)GAG>CAG		F-box protein 42							117.0	97.0	104.0					1																	16641805		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16641805C>G	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.109G>C	1.37:g.16641805C>G	ENSP00000364742:p.Glu37Gln					FBXO42_uc001ayf.2_5'UTR|FBXO42_uc001ayh.2_Missense_Mutation_p.E37Q	p.E37Q	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	2	325	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	37					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.109G>C	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994343	0.54041	.	.	ENSG00000037637	ENST00000375592	T	0.04234	3.67	5.81	5.81	0.92471	F-box domain, Skp2-like (1);	0.288478	0.37906	N	0.001899	T	0.04679	0.0127	N	0.19112	0.55	0.45676	D	0.998593	P	0.41673	0.759	B	0.34722	0.188	T	0.47787	-0.9090	10	0.56958	D	0.05	-7.7458	19.0543	0.93056	0.0:1.0:0.0:0.0	.	37	Q6P3S6	FBX42_HUMAN	Q	37	ENSP00000364742:E37Q	ENSP00000364742:E37Q	E	-	1	0	FBXO42	16514392	0.992000	0.36948	0.158000	0.22627	0.520000	0.34377	2.972000	0.49256	2.739000	0.93911	0.563000	0.77884	GAG		0.498	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			5	52	0	0	0	0	5	52				
PADI2	11240	broad.mit.edu	37	1	17397918	17397918	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:17397918C>T	ENST00000375486.4	-	14	1681	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.E424K	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	540					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TACAGGTTCTCCTGCACAAGG	0.597																																						uc001baf.2		NA																	0				ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1618-1620)GAG>AAG		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						134.0	103.0	113.0					1																	17397918		2203	4300	6503	SO:0001583	missense	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17397918C>T	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1618G>A	1.37:g.17397918C>T	ENSP00000364635:p.Glu540Lys					PADI2_uc010ocm.1_Missense_Mutation_p.E424K	p.E540K	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	14	1700	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	540					Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	c.1618G>A	CCDS177.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491308	0.44249	.	.	ENSG00000117115	ENST00000375486;ENST00000444885	T;T	0.22336	1.96;1.96	5.21	3.13	0.36017	Protein-arginine deiminase, C-terminal (1);	0.381639	0.29335	N	0.012454	T	0.26231	0.0640	M	0.62723	1.935	0.39316	D	0.965152	P;P	0.41366	0.667;0.747	P;B	0.45232	0.474;0.441	T	0.04360	-1.0957	10	0.25751	T	0.34	-38.7033	12.5395	0.56161	0.0:0.7162:0.2838:0.0	.	424;540	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	K	540;424	ENSP00000364635:E540K;ENSP00000405894:E424K	ENSP00000364635:E540K	E	-	1	0	PADI2	17270505	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	0.917000	0.28665	2.434000	0.82447	0.491000	0.48974	GAG		0.597	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			15	39	0	0	0	0	15	39				
PADI4	23569	broad.mit.edu	37	1	17662722	17662722	+	Splice_Site	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:17662722G>A	ENST00000375448.4	+	4	434		c.e4+1		AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV						cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GAAAGATCAGGTACCACTCAC	0.547											OREG0013149	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001baj.2		NA																	0				ovary(1)|skin(1)	2						c.e4+1		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						72.0	68.0	69.0					1																	17662722		2203	4300	6503	SO:0001630	splice_region_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17662722G>A	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.408+1G>A	1.37:g.17662722G>A			OREG0013149	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	719	PADI4_uc009vpc.2_Splice_Site_p.Q136_splice	p.Q136_splice	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	4	436	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						A8K392|B2RBW0|Q5VTZ8|Q70SX4	Splice_Site	SNP	ENST00000375448.4	37	c.408_splice	CCDS180.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453214	0.43531	.	.	ENSG00000159339	ENST00000375448	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2484	0.60036	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PADI4	17535309	1.000000	0.71417	0.976000	0.42696	0.036000	0.12997	4.172000	0.58243	2.562000	0.86427	0.643000	0.83706	.		0.547	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387	Intron	8	26	0	0	0	0	8	26				
ALDH4A1	8659	broad.mit.edu	37	1	19204081	19204081	+	Silent	SNP	G	G	A	rs150927009		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:19204081G>A	ENST00000375341.3	-	10	1223	c.966C>T	c.(964-966)ttC>ttT	p.F322F	ALDH4A1_ENST00000538309.1_Silent_p.F262F|ALDH4A1_ENST00000290597.5_Silent_p.F322F|ALDH4A1_ENST00000538839.1_Silent_p.F322F|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	322					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)	p.F322F(4)		cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGGTGCACGAAGTGGAAGT	0.657																																						uc001bbb.2		NA																	4	Substitution - coding silent(4)		cervix(2)|lung(2)		0						c.(964-966)TTC>TTT		aldehyde dehydrogenase 4A1 isoform a precursor	NADH(DB00157)						23.0	23.0	23.0					1																	19204081		2203	4300	6503	SO:0001819	synonymous_variant	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19204081G>A	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.966C>T	1.37:g.19204081G>A						ALDH4A1_uc010ocu.1_Silent_p.F262F|ALDH4A1_uc001bbc.2_Silent_p.F322F	p.F322F	NM_170726	NP_733844	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	10	1242	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	322					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	ENST00000375341.3	37	c.966C>T	CCDS188.1																																																																																				0.657	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			7	17	0	0	0	0	7	17				
TMCO4	255104	broad.mit.edu	37	1	20107215	20107215	+	Missense_Mutation	SNP	G	G	C	rs534456252		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:20107215G>C	ENST00000294543.6	-	4	278	c.37C>G	c.(37-39)Cag>Gag	p.Q13E	TMCO4_ENST00000375127.1_Missense_Mutation_p.Q13E|TMCO4_ENST00000375122.2_Missense_Mutation_p.Q13E	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	13						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGAGGCTGCTGAGGCAGCCTC	0.607																																						uc001bcn.2		NA																	0					0						c.(37-39)CAG>GAG		transmembrane and coiled-coil domains 4							15.0	18.0	17.0					1																	20107215		2194	4283	6477	SO:0001583	missense	255104					integral to membrane		g.chr1:20107215G>C		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.37C>G	1.37:g.20107215G>C	ENSP00000294543:p.Gln13Glu					TMCO4_uc001bcm.2_Missense_Mutation_p.Q13E|TMCO4_uc001bco.1_Missense_Mutation_p.Q13E|TMCO4_uc001bcp.1_Missense_Mutation_p.Q13E|TMCO4_uc009vpn.1_Missense_Mutation_p.Q13E|TMCO4_uc001bcq.1_Missense_Mutation_p.Q13E	p.Q13E	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	4	279	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	13					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.37C>G	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.435581	0.01108	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.30182	1.54;1.57;1.55	1.05	1.05	0.20165	.	0.590539	0.15276	N	0.270955	T	0.10895	0.0266	N	0.08118	0	0.22541	N	0.999001	B;B	0.27498	0.006;0.18	B;B	0.17433	0.001;0.018	T	0.29579	-1.0007	10	0.10111	T	0.7	.	5.4583	0.16602	0.0:0.0:1.0:0.0	.	13;13	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	E	13	ENSP00000294543:Q13E;ENSP00000364269:Q13E;ENSP00000364264:Q13E	ENSP00000294543:Q13E	Q	-	1	0	TMCO4	19979802	0.280000	0.24249	0.792000	0.32020	0.065000	0.16274	1.092000	0.30927	0.849000	0.35215	0.462000	0.41574	CAG		0.607	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		7	29	0	0	0	0	7	29				
TMEM57	55219	broad.mit.edu	37	1	25810760	25810760	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:25810760G>A	ENST00000374343.4	+	7	1487	c.1308G>A	c.(1306-1308)caG>caA	p.Q436Q	TMEM57_ENST00000399763.3_Silent_p.Q78Q|TMEM57_ENST00000399766.3_Silent_p.Q209Q	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	436					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGCTGCAGAACAAGTACG	0.572																																						uc001bkk.2		NA																	0					0						c.(1306-1308)CAG>CAA		transmembrane protein 57							51.0	49.0	50.0					1																	25810760		2203	4300	6503	SO:0001819	synonymous_variant	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25810760G>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1308G>A	1.37:g.25810760G>A						TMEM57_uc009vru.2_Silent_p.Q209Q|TMEM57_uc009vrv.2_Silent_p.Q78Q	p.Q436Q	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	7	1510	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	436					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Silent	SNP	ENST00000374343.4	37	c.1308G>A	CCDS30638.1																																																																																				0.572	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		15	40	0	0	0	0	15	40				
AHDC1	27245	broad.mit.edu	37	1	27875878	27875878	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:27875878C>T	ENST00000247087.5	-	5	3345	c.2749G>A	c.(2749-2751)Gcg>Acg	p.A917T	AHDC1_ENST00000374011.2_Missense_Mutation_p.A917T			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	917							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCTGGCGCGCGGACAGGACA	0.697																																						uc009vsy.2		NA																	0				central_nervous_system(1)	1						c.(2749-2751)GCG>ACG		AT hook, DNA binding motif, containing 1							37.0	43.0	41.0					1																	27875878		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27875878C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2749G>A	1.37:g.27875878C>T	ENSP00000247087:p.Ala917Thr					AHDC1_uc009vsz.1_Missense_Mutation_p.A917T	p.A917T	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	3718	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	917					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.2749G>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695465	0.48202	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.49720	0.77;0.77	5.24	-9.56	0.00566	.	0.927544	0.08957	N	0.869209	T	0.23094	0.0558	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22382	-1.0218	10	0.15952	T	0.53	1.395	9.4337	0.38626	0.1802:0.553:0.0:0.2668	.	917	Q5TGY3	AHDC1_HUMAN	T	917	ENSP00000247087:A917T;ENSP00000363123:A917T	ENSP00000247087:A917T	A	-	1	0	AHDC1	27748465	0.000000	0.05858	0.003000	0.11579	0.105000	0.19272	-1.372000	0.02570	-1.585000	0.01634	-1.021000	0.02439	GCG		0.697	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			16	43	0	0	0	0	16	43				
MACF1	23499	broad.mit.edu	37	1	39749116	39749116	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:39749116A>G	ENST00000372915.3	+	8	946	c.859A>G	c.(859-861)Atc>Gtc	p.I287V	MACF1_ENST00000564288.1_Missense_Mutation_p.I282V|MACF1_ENST00000539005.1_Missense_Mutation_p.I287V|MACF1_ENST00000545844.1_Missense_Mutation_p.I287V|MACF1_ENST00000567887.1_Missense_Mutation_p.I319V|MACF1_ENST00000361689.2_Missense_Mutation_p.I287V|MACF1_ENST00000317713.7_Missense_Mutation_p.I287V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	287	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGTCTGTAATCACTTATGT	0.418																																						uc010ois.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(859-861)ATC>GTC		microfilament and actin filament cross-linker							175.0	154.0	161.0					1																	39749116		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39749116A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.859A>G	1.37:g.39749116A>G	ENSP00000362006:p.Ile287Val					MACF1_uc001cda.1_Missense_Mutation_p.I195V	p.I287V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		10	1064	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	287			Actin-binding.|CH 2.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.859A>G		.	.	.	.	.	.	.	.	.	.	A	25.8	4.678939	0.88542	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.56	5.56	0.83823	.	.	.	.	.	D	0.94912	0.8355	L	0.50919	1.6	0.80722	D	1	B;D	0.53619	0.003;0.961	B;P	0.53518	0.013;0.728	D	0.95415	0.8502	9	0.87932	D	0	.	15.7332	0.77822	1.0:0.0:0.0:0.0	.	287;252	F8W8Q1;Q9UPN3-3	.;.	V	287;287;287;303;287;287;245;436;447	ENSP00000439537:I287V;ENSP00000362006:I287V;ENSP00000354573:I287V;ENSP00000313438:I287V;ENSP00000444364:I287V;ENSP00000435070:I245V;ENSP00000437059:I436V	ENSP00000313438:I287V	I	+	1	0	MACF1	39521703	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	9.339000	0.96797	2.123000	0.65237	0.477000	0.44152	ATC		0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		13	37	0	0	0	0	13	37				
PABPC4	8761	broad.mit.edu	37	1	40027815	40027815	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:40027815C>T	ENST00000372857.3	-	14	2567	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	PABPC4_ENST00000372862.3_Missense_Mutation_p.G563E|PABPC4_ENST00000372858.3_Missense_Mutation_p.G608E|PABPC4_ENST00000372856.3_Missense_Mutation_p.G579E	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	592	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGCAGCATTCCCGTGATCTT	0.498																																						uc010oiv.1		NA																	0					0						c.(1774-1776)GGA>GAA		poly A binding protein, cytoplasmic 4 isoform 2							62.0	59.0	60.0					1																	40027815		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40027815C>T	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1775G>A	1.37:g.40027815C>T	ENSP00000361948:p.Gly592Glu					PPIEL_uc001cdk.2_5'Flank|PABPC4_uc001cdl.2_Missense_Mutation_p.G608E|PABPC4_uc001cdm.2_Missense_Mutation_p.G579E	p.G592E	NM_003819	NP_003810	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		14	2673	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	592			PABC.		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1775G>A	CCDS438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.521486|4.521486	0.85600|0.85600	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000437136;ENST00000530186;ENST00000421687|ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	.|D;D;D;D	.|0.83591	.|-1.74;-1.74;-1.74;-1.74	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Polyadenylate-binding protein/Hyperplastic disc protein (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95341|0.95341	0.8488|0.8488	H|H	0.98802|0.98802	4.335|4.335	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;0.999	D|D	0.97277|0.97277	0.9915|0.9915	5|10	.|0.87932	.|D	.|0	.|.	19.207|19.207	0.93734|0.93734	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|592;579;608	.|Q13310;Q13310-2;Q4VC03	.|PABP4_HUMAN;.;.	K|E	147;16;498|563;608;592;579	.|ENSP00000361953:G563E;ENSP00000361949:G608E;ENSP00000361948:G592E;ENSP00000361947:G579E	.|ENSP00000361947:G579E	E|G	-|-	1|2	0|0	PABPC4|PABPC4	39800402|39800402	1.000000|1.000000	0.71417|0.71417	0.133000|0.133000	0.22050|0.22050	0.586000|0.586000	0.36452|0.36452	7.818000|7.818000	0.86416|0.86416	2.541000|2.541000	0.85698|0.85698	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.498	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		7	28	0	0	0	0	7	28				
LEPR	3953	broad.mit.edu	37	1	66101929	66101929	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:66101929C>A	ENST00000349533.6	+	20	2914	c.2729C>A	c.(2728-2730)cCt>cAt	p.P910H	LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ACATGTGGTCCTCTTCTTTTG	0.348																																						uc001dci.2		NA																	0				skin(1)	1						c.(2728-2730)CCT>CAT		leptin receptor isoform 1							159.0	164.0	162.0					1																	66101929		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66101929C>A	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2729C>A	1.37:g.66101929C>A	ENSP00000330393:p.Pro910His					LEPR_uc009waq.2_3'UTR	p.P910H	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	2931	+			910			Cytoplasmic (Potential).		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2729C>A	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331780	0.81801	.	.	ENSG00000116678	ENST00000349533	D	0.84873	-1.91	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.92704	0.7681	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92862	0.6306	10	0.87932	D	0	-18.9003	20.0281	0.97530	0.0:1.0:0.0:0.0	.	910	P48357	LEPR_HUMAN	H	910	ENSP00000330393:P910H	ENSP00000330393:P910H	P	+	2	0	LEPR	65874517	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.286000	0.65639	2.727000	0.93392	0.655000	0.94253	CCT		0.348	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		39	96	1	0	7.63e-17	1.31e-16	39	96				
CHI3L2	1117	broad.mit.edu	37	1	111777615	111777615	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:111777615G>C	ENST00000445067.2	+	7	1187	c.416G>C	c.(415-417)gGa>gCa	p.G139A	CHI3L2_ENST00000466741.1_Missense_Mutation_p.G60A|CHI3L2_ENST00000369748.4_Missense_Mutation_p.G139A|CHI3L2_ENST00000369744.2_Missense_Mutation_p.G129A|CHI3L2_ENST00000524472.1_Missense_Mutation_p.G60A			Q15782	CH3L2_HUMAN	chitinase 3-like 2	139					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		AACTTTGATGGACTGGATGTA	0.398																																						uc001eam.2		NA																	0				central_nervous_system(1)	1						c.(415-417)GGA>GCA		chitinase 3-like 2 isoform a							127.0	113.0	118.0					1																	111777615		2203	4300	6503	SO:0001583	missense	1117				chitin catabolic process	extracellular space	cation binding|chitinase activity	g.chr1:111777615G>C	U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.416G>C	1.37:g.111777615G>C	ENSP00000437082:p.Gly139Ala					CHI3L2_uc001ean.2_Missense_Mutation_p.G129A|CHI3L2_uc001eao.2_Missense_Mutation_p.G60A|CHI3L2_uc009wga.2_Missense_Mutation_p.G60A	p.G139A	NM_004000	NP_003991	Q15782	CH3L2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)	5	487	+		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	139					A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	ENST00000445067.2	37	c.416G>C	CCDS30802.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964648	0.74131	.	.	ENSG00000064886	ENST00000445067;ENST00000528451;ENST00000486561;ENST00000369744;ENST00000369748;ENST00000474304;ENST00000466741;ENST00000477185;ENST00000467038;ENST00000497587;ENST00000524472	T;D;D;T;T;T;T;T;T;T	0.81739	1.1;-1.53;-1.53;1.1;1.1;1.1;1.1;-1.37;1.1;1.1	3.71	3.71	0.42584	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.40302	N	0.001122	D	0.92681	0.7674	H	0.99042	4.41	0.50467	D	0.99987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94800	0.7970	10	0.87932	D	0	-6.904	12.9974	0.58654	0.0:0.0:1.0:0.0	.	60;129;139	B4DPR7;A6NNY3;Q15782	.;.;CH3L2_HUMAN	A	139;139;139;129;139;139;60;60;41;60;60	ENSP00000437082:G139A;ENSP00000436077:G139A;ENSP00000431968:G139A;ENSP00000358759:G129A;ENSP00000358763:G139A;ENSP00000437086:G60A;ENSP00000436272:G60A;ENSP00000431978:G41A;ENSP00000436006:G60A;ENSP00000432049:G60A	ENSP00000358759:G129A	G	+	2	0	CHI3L2	111579138	1.000000	0.71417	0.883000	0.34634	0.982000	0.71751	7.714000	0.84703	1.868000	0.54150	0.462000	0.41574	GGA		0.398	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000		4	43	0	0	0	0	4	43				
PSMD4	5710	broad.mit.edu	37	1	151237665	151237665	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:151237665C>G	ENST00000368884.3	+	5	473	c.393C>G	c.(391-393)ctC>ctG	p.L131L	PSMD4_ENST00000368881.4_Silent_p.L131L	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	131	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTAAACGCCTCAAGAAGGAGA	0.443																																						uc001exl.2		NA																	0					0						c.(391-393)CTC>CTG		proteasome 26S non-ATPase subunit 4							73.0	69.0	70.0					1																	151237665		2203	4300	6503	SO:0001819	synonymous_variant	5710				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151237665C>G	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.393C>G	1.37:g.151237665C>G						PSMD4_uc001exn.2_Silent_p.L131L	p.L131L	NM_002810	NP_002801	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	455	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		131			VWFA.		D3DV16|Q5VWC5|Q9NS92	Silent	SNP	ENST00000368884.3	37	c.393C>G	CCDS991.1	.	.	.	.	.	.	.	.	.	.	C	9.589	1.125535	0.20959	.	.	ENSG00000159352	ENST00000445776	.	.	.	5.44	-2.37	0.06643	.	.	.	.	.	T	0.24044	0.0582	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33624	-0.9861	4	.	.	.	-10.4185	2.6495	0.04994	0.0993:0.2141:0.3761:0.3106	.	.	.	.	E	19	.	.	Q	+	1	0	PSMD4	149504289	0.777000	0.28628	0.996000	0.52242	0.996000	0.88848	-0.225000	0.09151	-0.073000	0.12842	-0.150000	0.13652	CAA		0.443	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		3	47	0	0	0	0	3	47				
FLG2	388698	broad.mit.edu	37	1	152327481	152327481	+	Silent	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:152327481A>G	ENST00000388718.5	-	3	2853	c.2781T>C	c.(2779-2781)tcT>tcC	p.S927S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	927	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTTGAGCCAGAACCATGTT	0.488																																						uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2779-2781)TCT>TCC		filaggrin family member 2							330.0	297.0	308.0					1																	152327481		2203	4298	6501	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327481A>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2781T>C	1.37:g.152327481A>G						uc001ezv.2_Intron	p.S927S	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2854	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		927			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2781T>C	CCDS30861.1																																																																																				0.488	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		498	306	0	0	0	0	498	306				
ILF2	3608	broad.mit.edu	37	1	153636573	153636573	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:153636573C>G	ENST00000361891.4	-	10	815	c.690G>C	c.(688-690)ttG>ttC	p.L230F	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	230	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACGAATCCTCAAGTCCTTCA	0.398																																						uc001fcr.2		NA																	0					0						c.(688-690)TTG>TTC		interleukin enhancer binding factor 2							89.0	88.0	89.0					1																	153636573		2203	4300	6503	SO:0001583	missense	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153636573C>G	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.690G>C	1.37:g.153636573C>G	ENSP00000355011:p.Leu230Phe					ILF2_uc010pdy.1_Missense_Mutation_p.L192F|ILF2_uc009wok.2_Missense_Mutation_p.L208F	p.L230F	NM_004515	NP_004506	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		10	771	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		230			DZF.		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	ENST00000361891.4	37	c.690G>C	CCDS1050.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470861	0.63625	.	.	ENSG00000143621	ENST00000361891	T	0.55234	0.53	5.77	2.59	0.31030	DZF (2);	0.074403	0.56097	D	0.000026	T	0.44117	0.1278	M	0.77616	2.38	0.80722	D	1	P;P	0.45902	0.84;0.868	B;P	0.47346	0.409;0.544	T	0.42515	-0.9447	10	0.49607	T	0.09	-6.1623	9.1355	0.36872	0.0:0.7684:0.0:0.2316	.	230;230	F4ZW62;Q12905	.;ILF2_HUMAN	F	230	ENSP00000355011:L230F	ENSP00000355011:L230F	L	-	3	2	ILF2	151903197	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.812000	0.27211	0.245000	0.21373	0.650000	0.86243	TTG		0.398	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515		6	33	0	0	0	0	6	33				
IL6R	3570	broad.mit.edu	37	1	154437818	154437818	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:154437818T>G	ENST00000368485.3	+	10	1806	c.1369T>G	c.(1369-1371)Tat>Gat	p.Y457D	IL6R_ENST00000344086.4_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	457					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	ACGGAGCCCTTATGACATCAG	0.577																																						uc001fez.1		NA																	0				ovary(3)|breast(1)	4						c.(1369-1371)TAT>GAT		interleukin 6 receptor isoform 1 precursor							66.0	70.0	69.0					1																	154437818		2203	4300	6503	SO:0001583	missense	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154437818T>G	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1369T>G	1.37:g.154437818T>G	ENSP00000357470:p.Tyr457Asp					IL6R_uc001ffa.1_3'UTR	p.Y457D	NM_000565	NP_000556	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		10	1806	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		457			Cytoplasmic (Potential).		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.1369T>G	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.307383	0.60305	.	.	ENSG00000160712	ENST00000368485	T	0.18016	2.24	5.2	4.05	0.47172	.	0.160341	0.29646	N	0.011574	T	0.06735	0.0172	L	0.32530	0.975	0.52099	D	0.999945	D	0.56521	0.976	B	0.43990	0.438	T	0.15435	-1.0437	10	0.49607	T	0.09	-10.262	8.3878	0.32510	0.1733:0.0:0.0:0.8267	.	457	P08887	IL6RA_HUMAN	D	457	ENSP00000357470:Y457D	ENSP00000357470:Y457D	Y	+	1	0	IL6R	152704442	0.491000	0.26019	0.144000	0.22314	0.890000	0.51754	1.943000	0.40253	0.969000	0.38237	0.533000	0.62120	TAT		0.577	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		7	128	0	0	0	0	7	128				
PMVK	10654	broad.mit.edu	37	1	154898882	154898882	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:154898882G>A	ENST00000368467.3	-	4	695	c.390C>T	c.(388-390)cgC>cgT	p.R130R		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	130					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACGCTACAACGCGGACCGTCT	0.627																																						uc001ffq.2		NA																	0					0						c.(388-390)CGC>CGT		phosphomevalonate kinase							81.0	61.0	68.0					1																	154898882		2203	4300	6503	SO:0001819	synonymous_variant	10654				cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding	g.chr1:154898882G>A	L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.390C>T	1.37:g.154898882G>A							p.R130R	NM_006556	NP_006547	Q15126	PMVK_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	713	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		130	R->M: Approximately 4-fold decrease in Vmax for MgATP and R-MVP. Approximately 3-fold increase in Km for MgATP and R- MVP.				Q5TZW9	Silent	SNP	ENST00000368467.3	37	c.390C>T	CCDS1073.1																																																																																				0.627	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091088.1	NM_006556		7	73	0	0	0	0	7	73				
CCT3	7203	broad.mit.edu	37	1	156290786	156290786	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:156290786C>G	ENST00000295688.3	-	7	733	c.453G>C	c.(451-453)atG>atC	p.M151I	CCT3_ENST00000368261.3_Missense_Mutation_p.M106I|CCT3_ENST00000368259.2_Missense_Mutation_p.M113I|CCT3_ENST00000472765.2_Missense_Mutation_p.M106I	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	151					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TGTTCAGCATCATATCACTGT	0.423																																						uc001fol.1		NA																	0				ovary(1)|skin(1)	2						c.(451-453)ATG>ATC		chaperonin containing TCP1, subunit 3 isoform a							168.0	145.0	153.0					1																	156290786		2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156290786C>G	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.453G>C	1.37:g.156290786C>G	ENSP00000295688:p.Met151Ile					CCT3_uc001fom.1_Missense_Mutation_p.M150I|CCT3_uc001fon.1_Missense_Mutation_p.M113I|CCT3_uc010phj.1_Missense_Mutation_p.M105I|CCT3_uc010phk.1_Missense_Mutation_p.M105I|CCT3_uc010phl.1_Missense_Mutation_p.M105I	p.M151I	NM_005998	NP_005989	P49368	TCPG_HUMAN			7	673	-	Hepatocellular(266;0.158)		151					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.453G>C	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248634	0.22880	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555;ENST00000496684;ENST00000533194;ENST00000446905;ENST00000478640	T;T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;2.87;2.87;2.87;2.87;-1.19	6.14	3.95	0.45737	.	0.324583	0.35291	N	0.003302	T	0.42131	0.1189	N	0.12887	0.27	0.41837	D	0.9901	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.16722	0.0;0.016;0.001	T	0.40942	-0.9536	10	0.30854	T	0.27	-3.089	8.6182	0.33845	0.0:0.7521:0.1582:0.0896	.	113;150;151	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	I	151;113;106;106;175;150;72;137;130	ENSP00000295688:M151I;ENSP00000357242:M113I;ENSP00000357244:M106I;ENSP00000431543:M106I;ENSP00000413308:M175I;ENSP00000434232:M150I;ENSP00000434481:M72I;ENSP00000388799:M137I;ENSP00000435026:M130I	ENSP00000295688:M151I	M	-	3	0	CCT3	154557410	1.000000	0.71417	0.922000	0.36590	0.308000	0.27856	2.392000	0.44433	1.596000	0.50062	-0.196000	0.12772	ATG		0.423	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		8	109	0	0	0	0	8	109				
SPTA1	6708	broad.mit.edu	37	1	158641861	158641861	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:158641861C>G	ENST00000368147.4	-	11	1656	c.1476G>C	c.(1474-1476)atG>atC	p.M492I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	492					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTGTCTACTCATCCAACTGT	0.498																																						uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1474-1476)ATG>ATC		spectrin, alpha, erythrocytic 1							135.0	133.0	134.0					1																	158641861		1992	4159	6151	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158641861C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1476G>C	1.37:g.158641861C>G	ENSP00000357129:p.Met492Ile						p.M492I	NM_003126	NP_003117	P02549	SPTA1_HUMAN			11	1675	-	all_hematologic(112;0.0378)		492			Spectrin 6.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1476G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131951	0.77662	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.28069	1.63;1.63	5.0	5.0	0.66597	.	0.000000	0.38837	N	0.001560	T	0.24470	0.0593	L	0.52011	1.625	0.58432	D	0.999993	B	0.33379	0.41	P	0.44447	0.45	T	0.04635	-1.0937	10	0.13470	T	0.59	.	17.0503	0.86517	0.0:1.0:0.0:0.0	.	492	P02549	SPTA1_HUMAN	I	492	ENSP00000357130:M492I;ENSP00000357129:M492I	ENSP00000357129:M492I	M	-	3	0	SPTA1	156908485	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.856000	0.75450	2.590000	0.87494	0.655000	0.94253	ATG		0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		27	116	0	0	0	0	27	116				
FCRLA	84824	broad.mit.edu	37	1	161681748	161681748	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:161681748G>C	ENST00000236938.6	+	4	817	c.575G>C	c.(574-576)aGa>aCa	p.R192T	FCRLA_ENST00000367957.2_Missense_Mutation_p.R52T|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.R198T|FCRLA_ENST00000309691.6_Missense_Mutation_p.R86T|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.R181T|FCRLA_ENST00000294796.4_Missense_Mutation_p.R41T|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000540521.1_Missense_Mutation_p.R58T|FCRLA_ENST00000546024.1_Missense_Mutation_p.R103T|FCRLA_ENST00000367953.3_Missense_Mutation_p.R181T|FCRLA_ENST00000350710.3_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	175	Ig-like C2-type 2.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCAATTCTCAGAGCTGTACCC	0.527																																						uc001gbe.2		NA																	0					0						c.(592-594)AGA>ACA		Fc receptor-like and mucin-like 1							152.0	181.0	171.0					1																	161681748		2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161681748G>C	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.575G>C	1.37:g.161681748G>C	ENSP00000236938:p.Arg192Thr					FCRLA_uc001gbd.2_Missense_Mutation_p.R192T|FCRLA_uc001gbf.2_Missense_Mutation_p.R103T|FCRLA_uc001gbg.2_Missense_Mutation_p.R52T|FCRLA_uc009wuo.2_Missense_Mutation_p.R58T|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	p.R198T	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		5	835	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		175			Ig-like C2-type 2.		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.593G>C	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	G	9.769	1.172138	0.21704	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000540926;ENST00000367957;ENST00000309691;ENST00000294796;ENST00000367953	T;T;T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75	5.57	-5.94	0.02247	.	0.645425	0.13994	N	0.348637	T	0.01730	0.0055	L	0.28776	0.89	0.21105	N	0.999781	P;B;B;B;B	0.42248	0.774;0.043;0.42;0.051;0.001	B;B;B;B;B	0.39419	0.299;0.101;0.061;0.018;0.006	T	0.38023	-0.9680	10	0.39692	T	0.17	.	2.5002	0.04631	0.4085:0.3241:0.1578:0.1096	.	58;52;103;198;192	F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.	T	192;198;103;58;181;52;86;41;181	ENSP00000236938:R192T;ENSP00000356936:R198T;ENSP00000439838:R103T;ENSP00000442870:R58T;ENSP00000446380:R181T;ENSP00000356934:R52T;ENSP00000309596:R86T;ENSP00000294796:R41T;ENSP00000356930:R181T	ENSP00000236938:R192T	R	+	2	0	FCRLA	159948372	0.925000	0.31364	0.893000	0.35052	0.424000	0.31475	-0.229000	0.09098	-0.530000	0.06349	0.591000	0.81541	AGA		0.527	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		5	443	0	0	0	0	5	443				
CCDC181	57821	broad.mit.edu	37	1	169391472	169391472	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:169391472G>C	ENST00000367806.3	-	3	349	c.197C>G	c.(196-198)tCt>tGt	p.S66C	CCDC181_ENST00000545005.1_Missense_Mutation_p.S66C|CCDC181_ENST00000367805.3_Missense_Mutation_p.S66C|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	66						nucleus (GO:0005634)											GTCAGGATCAGAATGCCGTTT	0.378																																						uc001gga.1		NA																	0					0						c.(196-198)TCT>TGT		hypothetical protein LOC57821							102.0	93.0	96.0					1																	169391472		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169391472G>C	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.197C>G	1.37:g.169391472G>C	ENSP00000356780:p.Ser66Cys					C1orf114_uc001gfz.1_Missense_Mutation_p.S66C|C1orf114_uc009wvq.1_Missense_Mutation_p.S66C|C1orf114_uc001ggb.2_Missense_Mutation_p.S66C|C1orf114_uc001ggc.1_Missense_Mutation_p.S66C	p.S66C	NM_021179	NP_067002	Q5TID7	CA114_HUMAN			3	365	-	all_hematologic(923;0.208)		66					O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.197C>G		.	.	.	.	.	.	.	.	.	.	G	11.51	1.661028	0.29515	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.25414	1.81;1.81;1.81;1.8	5.27	5.27	0.74061	.	0.721976	0.13368	N	0.393166	T	0.30947	0.0781	L	0.57536	1.79	0.28454	N	0.916199	D;D;D	0.67145	0.995;0.996;0.996	P;P;P	0.58873	0.847;0.794;0.794	T	0.12116	-1.0560	9	0.59425	D	0.04	-0.5461	11.5359	0.50636	0.0823:0.0:0.9177:0.0	.	66;66;66	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	C	66	ENSP00000356779:S66C;ENSP00000356780:S66C;ENSP00000442297:S66C;ENSP00000411000:S66C	ENSP00000356779:S66C	S	-	2	0	C1orf114	167658096	1.000000	0.71417	0.983000	0.44433	0.037000	0.13140	4.919000	0.63383	2.457000	0.83068	0.563000	0.77884	TCT		0.378	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		8	84	0	0	0	0	8	84				
TDRD5	163589	broad.mit.edu	37	1	179562647	179562647	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:179562647G>A	ENST00000367614.1	+	3	644	c.285G>A	c.(283-285)agG>agA	p.R95R	TDRD5_ENST00000444136.1_Silent_p.R95R|RP11-545A16.4_ENST00000567150.1_RNA|TDRD5_ENST00000294848.8_Silent_p.R95R	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	95					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAAAACAGAGGAGCAGCCATA	0.438																																						uc001gnf.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(283-285)AGG>AGA		tudor domain containing 5							70.0	67.0	68.0					1																	179562647		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179562647G>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.285G>A	1.37:g.179562647G>A						TDRD5_uc010pnp.1_Silent_p.R95R	p.R95R	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			3	535	+			95			Lotus/OST-HTH 1.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.285G>A	CCDS1332.1																																																																																				0.438	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		15	43	0	0	0	0	15	43				
TPR	7175	broad.mit.edu	37	1	186312565	186312565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:186312565C>T	ENST00000367478.4	-	27	3939	c.3643G>A	c.(3643-3645)Gag>Aag	p.E1215K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1215					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGAGCCACCTCAAACCTAGTT	0.353			T	NTRK1	papillary thyroid																																	uc001grv.2		NA		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(3643-3645)GAG>AAG		nuclear pore complex-associated protein TPR							107.0	101.0	103.0					1																	186312565		1909	4131	6040	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186312565C>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3643G>A	1.37:g.186312565C>T	ENSP00000356448:p.Glu1215Lys						p.E1215K	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	27	3940	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1215			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.3643G>A	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	36	5.698541	0.96802	.	.	ENSG00000047410	ENST00000367478	T	0.28069	1.63	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.44561	0.1299	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.45862	-0.9232	10	0.62326	D	0.03	.	18.4489	0.90696	0.0:1.0:0.0:0.0	.	1215	P12270	TPR_HUMAN	K	1215	ENSP00000356448:E1215K	ENSP00000356448:E1215K	E	-	1	0	TPR	184579188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.372000	0.80975	0.561000	0.74099	GAG		0.353	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		20	99	0	0	0	0	20	99				
CFH	3075	broad.mit.edu	37	1	196709904	196709904	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:196709904C>T	ENST00000367429.4	+	18	3178	c.2938C>T	c.(2938-2940)Cac>Tac	p.H980Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	980	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAAATGGTCTCACCCTCCATC	0.338																																						uc001gtj.3		NA																	0				skin(4)|ovary(1)|breast(1)	6						c.(2938-2940)CAC>TAC		complement factor H isoform a precursor							128.0	119.0	122.0					1																	196709904		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196709904C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2938C>T	1.37:g.196709904C>T	ENSP00000356399:p.His980Tyr						p.H980Y	NM_000186	NP_000177	P08603	CFAH_HUMAN			18	3178	+			980			Sushi 16.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2938C>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545890	0.27652	.	.	ENSG00000000971	ENST00000367429	T	0.63580	-0.05	6.16	-12.3	0.00002	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.48187	0.1486	M	0.66439	2.03	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39375	-0.9617	9	0.54805	T	0.06	.	4.5624	0.12166	0.4823:0.1001:0.3016:0.116	.	980	P08603	CFAH_HUMAN	Y	980	ENSP00000356399:H980Y	ENSP00000356399:H980Y	H	+	1	0	CFH	194976527	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.057000	0.00625	-2.607000	0.00447	-0.133000	0.14855	CAC		0.338	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		8	113	0	0	0	0	8	113				
CFHR2	3080	broad.mit.edu	37	1	196920100	196920100	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:196920100G>A	ENST00000367415.5	+	3	472	c.372G>A	c.(370-372)gaG>gaA	p.E124E	CFHR2_ENST00000476712.2_Silent_p.E108E|CFHR2_ENST00000367421.3_Silent_p.E124E|CFHR2_ENST00000496448.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	124	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.E124E(1)		large_intestine(2)|ovary(1)|skin(3)	6						AAAACAATGAGAACAACATTT	0.393																																						uc001gtq.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(370-372)GAG>GAA		H factor (complement)-like 3 precursor							135.0	117.0	123.0					1																	196920100		2203	4300	6503	SO:0001819	synonymous_variant	3080					extracellular region		g.chr1:196920100G>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.372G>A	1.37:g.196920100G>A						CFHR2_uc001gtr.1_Intron	p.E124E	NM_005666	NP_005657	P36980	FHR2_HUMAN			3	449	+			124			Sushi 2.		Q14310|Q5T9T1	Silent	SNP	ENST00000367415.5	37	c.372G>A	CCDS30959.1																																																																																				0.393	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		13	120	0	0	0	0	13	120				
CRB1	23418	broad.mit.edu	37	1	197298069	197298069	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:197298069G>A	ENST00000367400.3	+	2	723	c.588G>A	c.(586-588)aaG>aaA	p.K196K	CRB1_ENST00000535699.1_Silent_p.K127K|CRB1_ENST00000367399.2_Silent_p.K196K|CRB1_ENST00000538660.1_Silent_p.K196K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	196	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATCCCTGCAAGAACGAGGCTA	0.448																																						uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(586-588)AAG>AAA		crumbs homolog 1 precursor							73.0	64.0	67.0					1																	197298069		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197298069G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.588G>A	1.37:g.197298069G>A						CRB1_uc010poz.1_Silent_p.K127K|CRB1_uc001gty.1_Silent_p.K196K|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.K196K|CRB1_uc010ppb.1_Silent_p.K196K	p.K196K	NM_201253	NP_957705	P82279	CRUM1_HUMAN			2	723	+			196			Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.588G>A	CCDS1390.1																																																																																				0.448	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		4	68	0	0	0	0	4	68				
PPP1R12B	4660	broad.mit.edu	37	1	202457699	202457699	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:202457699C>G	ENST00000608999.1	+	14	2042	c.1889C>G	c.(1888-1890)tCt>tGt	p.S630C	PPP1R12B_ENST00000391959.3_5'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S630C|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000367270.4_5'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	630					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAAGCAGAGTCTTTACGGAAA	0.433																																						uc001gya.1		NA																	0				ovary(3)	3						c.(1888-1890)TCT>TGT		protein phosphatase 1, regulatory (inhibitor)							76.0	68.0	70.0					1																	202457699		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202457699C>G	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1889C>G	1.37:g.202457699C>G	ENSP00000476755:p.Ser630Cys					PPP1R12B_uc001gxz.1_Missense_Mutation_p.S630C|PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR	p.S630C	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		14	2033	+			630					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.1889C>G	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483148	0.84747	.	.	ENSG00000077157	ENST00000406302;ENST00000336894	T;T	0.03386	3.95;3.95	5.09	5.09	0.68999	.	0.000000	0.52532	D	0.000076	T	0.20333	0.0489	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00436	-1.1740	10	0.87932	D	0	.	15.3971	0.74805	0.0:1.0:0.0:0.0	.	630;630	O60237;F8W8M3	MYPT2_HUMAN;.	C	630	ENSP00000384496:S630C;ENSP00000337897:S630C	ENSP00000337897:S630C	S	+	2	0	PPP1R12B	200724322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.630000	0.74272	2.344000	0.79699	0.591000	0.81541	TCT		0.433	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		41	24	0	0	0	0	41	24				
KLHL12	59349	broad.mit.edu	37	1	202863774	202863774	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:202863774C>G	ENST00000367261.3	-	9	1457	c.1239G>C	c.(1237-1239)caG>caC	p.Q413H	KLHL12_ENST00000367259.1_Missense_Mutation_p.Q146H|KLHL12_ENST00000435533.3_Missense_Mutation_p.Q451H	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	413	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCGGGCTGTCTGCATATCTC	0.527																																						uc001gyo.1		NA																	0					0						c.(1237-1239)CAG>CAC		kelch-like 12							147.0	143.0	144.0					1																	202863774		2203	4300	6503	SO:0001583	missense	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202863774C>G	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1239G>C	1.37:g.202863774C>G	ENSP00000356230:p.Gln413His					KLHL12_uc001gym.1_Missense_Mutation_p.Q146H|KLHL12_uc001gyn.1_Missense_Mutation_p.Q263H|KLHL12_uc010pqc.1_Missense_Mutation_p.Q451H|KLHL12_uc009xah.1_Missense_Mutation_p.Q312H	p.Q413H	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		9	1439	-			413			Kelch 3.|Interaction with DVL3.		A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	c.1239G>C	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687452	0.48097	.	.	ENSG00000117153	ENST00000367261;ENST00000367259;ENST00000435533	T;T;T	0.73363	-0.19;-0.19;-0.74	5.47	4.56	0.56223	Galactose oxidase, beta-propeller (1);	0.103021	0.64402	D	0.000002	T	0.54382	0.1855	N	0.10760	0.04	0.50467	D	0.999879	B;P;P	0.39060	0.008;0.657;0.632	B;B;B	0.38327	0.016;0.166;0.271	T	0.57991	-0.7715	10	0.40728	T	0.16	.	10.8645	0.46847	0.0:0.8553:0.0:0.1447	.	451;413;146	B7Z7B8;Q53G59;Q9H7R2	.;KLH12_HUMAN;.	H	413;146;451	ENSP00000356230:Q413H;ENSP00000356228:Q146H;ENSP00000416886:Q451H	ENSP00000356228:Q146H	Q	-	3	2	KLHL12	201130397	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.972000	0.29409	1.437000	0.47472	0.557000	0.71058	CAG		0.527	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		28	262	0	0	0	0	28	262				
CHIT1	1118	broad.mit.edu	37	1	203186208	203186208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:203186208G>A	ENST00000367229.1	-	11	1244	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	CHIT1_ENST00000535569.1_Nonsense_Mutation_p.Q395*|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.Q385*|CHIT1_ENST00000484834.1_Intron	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	404					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCAGAGGGCTGACCTGGTTTT	0.567											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gzn.2		NA																	0					0						c.(1210-1212)CAG>TAG		chitotriosidase precursor							76.0	76.0	76.0					1																	203186208		2203	4300	6503	SO:0001587	stop_gained	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203186208G>A	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1210C>T	1.37:g.203186208G>A	ENSP00000356198:p.Gln404*		OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2135	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Nonsense_Mutation_p.Q166*|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Nonsense_Mutation_p.Q395*	p.Q404*	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			11	1306	-			404					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Nonsense_Mutation	SNP	ENST00000367229.1	37	c.1210C>T	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725396	0.68959	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.95	3.05	0.35203	.	1.946640	0.03116	N	0.163124	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-1.325	6.9425	0.24500	0.0951:0.1753:0.7296:0.0	.	.	.	.	X	404;385;395	.	ENSP00000255427:Q385X	Q	-	1	0	CHIT1	201452831	0.026000	0.19158	0.000000	0.03702	0.125000	0.20455	2.147000	0.42226	0.491000	0.27793	-0.182000	0.12963	CAG		0.567	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		12	122	0	0	0	0	12	122				
FMOD	2331	broad.mit.edu	37	1	203316510	203316510	+	Missense_Mutation	SNP	C	C	T	rs367961930		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:203316510C>T	ENST00000354955.4	-	2	1352	c.889G>A	c.(889-891)Gag>Aag	p.E297K	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	297					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			AGGTCTAGCTCAAGGAGGCTG	0.557																																						uc001gzr.2		NA																	0				ovary(2)|breast(1)	3						c.(889-891)GAG>AAG		fibromodulin precursor		C	LYS/GLU	0,4406		0,0,2203	151.0	143.0	146.0		889	5.2	1.0	1		146	1,8599	1.2+/-3.3	0,1,4299	no	missense	FMOD	NM_002023.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	297/377	203316510	1,13005	2203	4300	6503	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316510C>T	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.889G>A	1.37:g.203316510C>T	ENSP00000347041:p.Glu297Lys					FMOD_uc010pqi.1_RNA	p.E297K	NM_002023	NP_002014	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1025	-			297			LRR 9.		Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.889G>A	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855178	0.91355	0.0	1.16E-4	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.57907	0.37	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.68357	0.2992	L	0.51853	1.615	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70956	-0.4731	10	0.72032	D	0.01	-23.05	17.2771	0.87119	0.0:1.0:0.0:0.0	.	297	Q06828	FMOD_HUMAN	K	284;297	ENSP00000347041:E297K	ENSP00000347041:E297K	E	-	1	0	FMOD	201583133	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.414000	0.81942	0.655000	0.94253	GAG		0.557	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		114	105	0	0	0	0	114	105				
REN	5972	broad.mit.edu	37	1	204128555	204128555	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:204128555C>G	ENST00000272190.8	-	5	689	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	REN_ENST00000367195.2_Missense_Mutation_p.E221Q	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	221					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAGACGTCCTCTTTTAGCACC	0.562																																						uc001haq.2		NA																	0				skin(3)|central_nervous_system(1)	4						c.(661-663)GAG>CAG		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)						120.0	109.0	113.0					1																	204128555		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204128555C>G	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.661G>C	1.37:g.204128555C>G	ENSP00000272190:p.Glu221Gln						p.E221Q	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	705	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		221					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.661G>C	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	7.399	0.632363	0.14322	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.58506	0.33;0.33	5.35	3.44	0.39384	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.142200	0.64402	D	0.000007	T	0.41880	0.1178	L	0.43646	1.37	0.23962	N	0.996337	B	0.24920	0.114	B	0.27380	0.079	T	0.21827	-1.0234	10	0.08837	T	0.75	.	6.1316	0.20209	0.1363:0.6587:0.1319:0.0731	.	221	P00797	RENI_HUMAN	Q	221;140;221	ENSP00000356163:E221Q;ENSP00000272190:E221Q	ENSP00000272190:E221Q	E	-	1	0	REN	202395178	0.993000	0.37304	0.032000	0.17829	0.000000	0.00434	2.887000	0.48586	1.249000	0.43950	-0.314000	0.08810	GAG		0.562	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		18	104	0	0	0	0	18	104				
PIK3C2B	5287	broad.mit.edu	37	1	204400897	204400897	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:204400897C>G	ENST00000367187.3	-	29	4736	c.4180G>C	c.(4180-4182)Gag>Cag	p.E1394Q	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.E1366Q	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1394	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGAGTGTTCTCTCGCATCACC	0.532											OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001haw.2		NA																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(4180-4182)GAG>CAG		phosphoinositide-3-kinase, class 2 beta							217.0	192.0	200.0					1																	204400897		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204400897C>G	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4180G>C	1.37:g.204400897C>G	ENSP00000356155:p.Glu1394Gln		OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2144	PIK3C2B_uc010pqv.1_Missense_Mutation_p.E1366Q	p.E1394Q	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		29	4659	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1394			PX.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.4180G>C	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673013	0.47781	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.69435	-0.4;-0.4	5.65	5.65	0.86999	Phox homologous domain (5);	0.058894	0.64402	D	0.000002	T	0.77054	0.4074	L	0.43598	1.365	0.48452	D	0.999656	B;D	0.76494	0.001;0.999	B;D	0.72982	0.011;0.979	T	0.74435	-0.3666	10	0.38643	T	0.18	.	19.3225	0.94248	0.0:1.0:0.0:0.0	.	1366;1394	F5GWN5;O00750	.;P3C2B_HUMAN	Q	1394;1366	ENSP00000356155:E1394Q;ENSP00000400561:E1366Q	ENSP00000356155:E1394Q	E	-	1	0	PIK3C2B	202667520	1.000000	0.71417	0.990000	0.47175	0.417000	0.31264	5.988000	0.70579	2.663000	0.90544	0.563000	0.77884	GAG		0.532	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		24	275	0	0	0	0	24	275				
SLC41A1	254428	broad.mit.edu	37	1	205779410	205779410	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:205779410G>A	ENST00000367137.3	-	2	1174	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	54					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCGTTGGCCCGAGACTCAATC	0.652											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hdh.1		NA																	0				skin(2)	2						c.(160-162)CGG>TGG		solute carrier family 41 member 1							91.0	79.0	83.0					1																	205779410		2203	4300	6503	SO:0001583	missense	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205779410G>A	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.160C>T	1.37:g.205779410G>A	ENSP00000356105:p.Arg54Trp		OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2154		p.R54W	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	1032	-	Breast(84;0.0799)		54					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	c.160C>T	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371650	0.95923	.	.	ENSG00000133065	ENST00000367137	T	0.36340	1.26	5.64	5.64	0.86602	.	0.053466	0.85682	D	0.000000	T	0.45856	0.1363	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	P	0.51806	0.68	T	0.20571	-1.0271	10	0.38643	T	0.18	-13.3383	19.3016	0.94146	0.0:0.0:1.0:0.0	.	54	Q8IVJ1	S41A1_HUMAN	W	54	ENSP00000356105:R54W	ENSP00000356105:R54W	R	-	1	2	SLC41A1	204046033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.775000	0.85489	2.662000	0.90505	0.555000	0.69702	CGG		0.652	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			10	99	0	0	0	0	10	99				
CR1	1378	broad.mit.edu	37	1	207741206	207741206	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:207741206G>A	ENST00000367049.4	+	25	3990	c.3990G>A	c.(3988-3990)ggG>ggA	p.G1330G	CR1_ENST00000367053.1_Silent_p.G880G|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Silent_p.G880G|CR1_ENST00000400960.2_Silent_p.G880G|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	880	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCCTAATGGGAGACACACAG	0.433																																						uc001hfy.2		NA																	0				ovary(3)	3						c.(2638-2640)GGG>GGA		complement receptor 1 isoform F precursor							103.0	123.0	117.0					1																	207741206		1797	4083	5880	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207741206G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.3990G>A	1.37:g.207741206G>A						CR1_uc009xcl.1_Silent_p.G430G|CR1_uc001hfx.2_Silent_p.G1330G|CR1_uc009xck.1_Silent_p.G430G	p.G880G	NM_000573	NP_000564	P17927	CR1_HUMAN			17	2780	+			880			Extracellular (Potential).|Sushi 14.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.2640G>A	CCDS44308.1																																																																																				0.433	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		10	367	0	0	0	0	10	367				
LIN9	286826	broad.mit.edu	37	1	226474137	226474137	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:226474137C>G	ENST00000328205.5	-	6	1014	c.469G>C	c.(469-471)Gac>Cac	p.D157H	LIN9_ENST00000366801.1_Missense_Mutation_p.D106H|LIN9_ENST00000481685.1_Missense_Mutation_p.D122H	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	141	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ACACAGAAGTCATTATCACCT	0.318																																					Ovarian(197;1696 2974 11248 14117)	uc001hqa.2		NA																	0					0						c.(469-471)GAC>CAC		lin-9 homolog							57.0	62.0	60.0					1																	226474137		2202	4298	6500	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226474137C>G	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.469G>C	1.37:g.226474137C>G	ENSP00000329102:p.Asp157His					LIN9_uc001hqb.2_Missense_Mutation_p.D122H|LIN9_uc001hqc.2_Missense_Mutation_p.D89H|LIN9_uc009xel.1_Missense_Mutation_p.D122H	p.D157H	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	6	779	-	Breast(184;0.158)		141			Sufficient for interaction with RB1.		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.469G>C	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891289	0.72524	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.85	5.85	0.93711	.	0.044900	0.85682	D	0.000000	D	0.84456	0.5476	M	0.86028	2.79	0.80722	D	1	D;D;D	0.76494	0.96;0.966;0.999	P;P;D	0.69824	0.733;0.85;0.966	D	0.85906	0.1437	9	0.87932	D	0	.	20.1556	0.98114	0.0:1.0:0.0:0.0	.	122;141;291	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	H	117;157;212;106;122;291	.	ENSP00000329102:D157H	D	-	1	0	LIN9	224540760	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.280000	0.78610	2.767000	0.95098	0.655000	0.94253	GAC		0.318	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		24	63	0	0	0	0	24	63				
OBSCN	84033	broad.mit.edu	37	1	228432256	228432256	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:228432256C>T	ENST00000422127.1	+	11	3509	c.3465C>T	c.(3463-3465)ttC>ttT	p.F1155F	OBSCN_ENST00000570156.2_Silent_p.F1247F|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.F1155F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1155	Ig-like 11.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGTCTCCTTCCACCTGCACA	0.542																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(3463-3465)TTC>TTT		obscurin, cytoskeletal calmodulin and							100.0	106.0	104.0					1																	228432256		1992	4167	6159	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228432256C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3465C>T	1.37:g.228432256C>T						OBSCN_uc001hsn.2_Silent_p.F1155F	p.F1155F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			11	3509	+		Prostate(94;0.0405)	1155			Ig-like 11.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.3465C>T	CCDS58065.1																																																																																				0.542	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		11	196	0	0	0	0	11	196				
OBSCN	84033	broad.mit.edu	37	1	228556503	228556503	+	Silent	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:228556503A>G	ENST00000422127.1	+	89	19892	c.19848A>G	c.(19846-19848)ccA>ccG	p.P6616P	OBSCN_ENST00000570156.2_Silent_p.P7573P|OBSCN_ENST00000366707.4_Silent_p.P4250P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6616	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACATCACCCCAGCAGAGCTGC	0.567																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(19846-19848)CCA>CCG		obscurin, cytoskeletal calmodulin and							156.0	165.0	162.0					1																	228556503		2026	4183	6209	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228556503A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19848A>G	1.37:g.228556503A>G						OBSCN_uc001hsr.1_Silent_p.P1245P	p.P6616P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			89	19892	+		Prostate(94;0.0405)	6616			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.19848A>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.314907	0.40996	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.56	-9.11	0.00711	.	.	.	.	.	T	0.23886	0.0578	.	.	.	0.21499	N	0.999665	.	.	.	.	.	.	T	0.20273	-1.0280	4	.	.	.	.	7.2991	0.26409	0.087:0.2694:0.4885:0.155	.	.	.	.	G	1233	.	.	S	+	1	0	OBSCN	226623126	0.000000	0.05858	0.000000	0.03702	0.779000	0.44077	-4.093000	0.00296	-2.559000	0.00474	-0.624000	0.04008	AGC		0.567	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		158	98	0	0	0	0	158	98				
TRIM67	440730	broad.mit.edu	37	1	231335933	231335933	+	Missense_Mutation	SNP	C	C	T	rs372382212		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:231335933C>T	ENST00000366653.5	+	4	1303	c.1303C>T	c.(1303-1305)Cgt>Tgt	p.R435C	TRIM67_ENST00000366652.2_Missense_Mutation_p.R435C|TRIM67_ENST00000449018.3_Missense_Mutation_p.R373C|TRIM67_ENST00000444294.3_Missense_Mutation_p.R435C			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	435					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ATTGAAGCTGCGTCAGTCCAC	0.532																																						uc009xfn.1		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(1303-1305)CGT>TGT		tripartite motif-containing 67							154.0	157.0	156.0					1																	231335933		2020	4188	6208	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231335933C>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1303C>T	1.37:g.231335933C>T	ENSP00000355613:p.Arg435Cys						p.R435C	NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN			4	1345	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	435					Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1303C>T	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798828	0.70567	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.71341	-0.56;-0.46;-0.48;-0.55	5.31	5.31	0.75309	B-box, C-terminal (1);	0.050678	0.85682	D	0.000000	D	0.82287	0.5004	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	D	0.84070	0.0379	10	0.87932	D	0	.	18.9705	0.92713	0.0:1.0:0.0:0.0	.	435	Q6ZTA4	TRI67_HUMAN	C	435;435;373;435	ENSP00000412124:R435C;ENSP00000355612:R435C;ENSP00000400163:R373C;ENSP00000355613:R435C	ENSP00000355612:R435C	R	+	1	0	TRIM67	229402556	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	3.017000	0.49615	2.482000	0.83794	0.555000	0.69702	CGT		0.532	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		14	219	0	0	0	0	14	219				
FMN2	56776	broad.mit.edu	37	1	240371390	240371390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:240371390G>A	ENST00000319653.9	+	5	3508	c.3278G>A	c.(3277-3279)gGa>gAa	p.G1093E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1093	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCTACCCGGAGCGGGCATA	0.726																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(3277-3279)GGA>GAA		formin 2							5.0	6.0	6.0					1																	240371390		1875	3855	5730	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371390G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3278G>A	1.37:g.240371390G>A	ENSP00000318884:p.Gly1093Glu					FMN2_uc010pye.1_Missense_Mutation_p.G1097E	p.G1093E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3503	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1093			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3278G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	g	6.562	0.471944	0.12461	.	.	ENSG00000155816	ENST00000319653	T	0.67523	-0.27	3.16	2.2	0.27929	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	0.252042	0.27581	N	0.018723	T	0.80374	0.4611	M	0.90595	3.13	0.09310	N	1	D	0.59357	0.985	P	0.58130	0.833	T	0.73547	-0.3948	9	.	.	.	.	11.7988	0.52114	0.0:0.338:0.662:0.0	.	1093	Q9NZ56	FMN2_HUMAN	E	1093	ENSP00000318884:G1093E	.	G	+	2	0	FMN2	238438013	0.179000	0.23135	0.003000	0.11579	0.004000	0.04260	2.432000	0.44784	0.605000	0.29947	0.484000	0.47621	GGA		0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		3	9	0	0	0	0	3	9				
AHCTF1	25909	broad.mit.edu	37	1	247040301	247040301	+	Missense_Mutation	SNP	T	T	C	rs369798428		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:247040301T>C	ENST00000391829.2	-	23	3011	c.2888A>G	c.(2887-2889)aAt>aGt	p.N963S	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.N998S|AHCTF1_ENST00000326225.3_Missense_Mutation_p.N972S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	963	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGGCACATAATTGGCACGCTG	0.378																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NA																	0				ovary(5)|skin(2)	7						c.(2887-2889)AAT>AGT		transcription factor ELYS		T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	86.0	83.0	84.0		2915	5.5	1.0	1		84	0,8600		0,0,4300	no	missense	AHCTF1	NM_015446.4	46	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	972/2276	247040301	1,13005	2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247040301T>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2888A>G	1.37:g.247040301T>C	ENSP00000375705:p.Asn963Ser					AHCTF1_uc001ibv.1_Missense_Mutation_p.N972S|AHCTF1_uc009xgs.1_5'UTR|AHCTF1_uc001ibw.1_RNA	p.N963S	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		22	2895	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	963			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.2888A>G		.	.	.	.	.	.	.	.	.	.	T	23.7	4.448663	0.84101	2.27E-4	0.0	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.33216	1.42;1.42;1.43	5.53	5.53	0.82687	.	0.108387	0.64402	D	0.000011	T	0.53094	0.1775	M	0.63843	1.955	0.53005	D	0.999961	D;D	0.89917	1.0;0.996	D;P	0.83275	0.996;0.907	T	0.50189	-0.8857	10	0.41790	T	0.15	-20.8134	15.9613	0.79933	0.0:0.0:0.0:1.0	.	998;963	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	S	998;972;963	ENSP00000355464:N998S;ENSP00000355465:N972S;ENSP00000375705:N963S	ENSP00000355465:N972S	N	-	2	0	AHCTF1	245106924	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.252000	0.78309	2.240000	0.73641	0.477000	0.44152	AAT		0.378	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		12	79	0	0	0	0	12	79				
OR2L3	391192	broad.mit.edu	37	1	248224496	248224496	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:248224496G>T	ENST00000359959.3	+	1	513	c.513G>T	c.(511-513)agG>agT	p.R171S	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCCAATCCAGGGCCATCAATC	0.473																																						uc001idx.1		NA																	0					0						c.(511-513)AGG>AGT		olfactory receptor, family 2, subfamily L,							119.0	160.0	146.0					1																	248224496		2202	4299	6501	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224496G>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.513G>T	1.37:g.248224496G>T	ENSP00000353044:p.Arg171Ser					OR2L13_uc001ids.2_Intron	p.R171S	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	513	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		171			Extracellular (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.513G>T	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	11.97	1.797705	0.31777	.	.	ENSG00000198128	ENST00000359959	T	0.00084	8.75	2.05	-1.94	0.07571	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36338	U	0.002648	T	0.00210	0.0006	M	0.67953	2.075	0.09310	N	1	D	0.53885	0.963	P	0.56916	0.809	T	0.53344	-0.8452	10	0.87932	D	0	.	0.4318	0.00472	0.2306:0.1386:0.3129:0.3179	.	171	Q8NG85	OR2L3_HUMAN	S	171	ENSP00000353044:R171S	ENSP00000353044:R171S	R	+	3	2	OR2L3	246291119	0.000000	0.05858	0.007000	0.13788	0.000000	0.00434	-5.237000	0.00138	-0.177000	0.10690	-1.450000	0.01041	AGG		0.473	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		32	219	1	0	1.75e-11	2.97e-11	32	219				
LYZL1	84569	broad.mit.edu	37	10	29599073	29599073	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:29599073C>T	ENST00000375500.3	+	4	528	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	111					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				ATGCAATTATCTGTGCCAGGA	0.433																																						uc001iul.2		NA																	0					0						c.(469-471)ATC>ATT		lysozyme-like 1							161.0	143.0	149.0					10																	29599073		2203	4300	6503	SO:0001819	synonymous_variant	84569				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:29599073C>T		CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.471C>T	10.37:g.29599073C>T							p.I157I	NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN			4	528	+		Breast(68;0.203)	111					Q5T921|Q8WW16	Silent	SNP	ENST00000375500.3	37	c.471C>T	CCDS31174.1																																																																																				0.433	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517		12	30	0	0	0	0	12	30				
ANK3	288	broad.mit.edu	37	10	62149197	62149197	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:62149197C>T	ENST00000280772.2	-	1	291	c.100G>A	c.(100-102)Gat>Aat	p.D34N	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	34					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTCCGATCCCGGGACCGT	0.408																																						uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(100-102)GAT>AAT		ankyrin 3 isoform 1							160.0	151.0	154.0					10																	62149197		2202	4300	6502	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62149197C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.100G>A	10.37:g.62149197C>T	ENSP00000280772:p.Asp34Asn					ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jlb.1_Intron	p.D34N	NM_020987	NP_066267	Q12955	ANK3_HUMAN			1	292	-			34					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.100G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405146	0.62288	.	.	ENSG00000151150	ENST00000280772	T	0.63255	-0.03	5.96	5.96	0.96718	.	0.000000	0.34531	U	0.003895	T	0.64713	0.2623	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.69888	-0.5023	10	0.48119	T	0.1	.	19.4101	0.94667	0.0:1.0:0.0:0.0	.	34	Q12955	ANK3_HUMAN	N	34	ENSP00000280772:D34N	ENSP00000280772:D34N	D	-	1	0	ANK3	61819203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.880000	0.69698	2.832000	0.97577	0.655000	0.94253	GAT		0.408	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		15	60	0	0	0	0	15	60				
ADAMTS14	140766	broad.mit.edu	37	10	72500862	72500862	+	Missense_Mutation	SNP	C	C	T	rs370358418		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:72500862C>T	ENST00000373207.1	+	12	1868	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.S626F	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	623	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AAGCGCAACTCCTACTATGTG	0.617																																						uc001jrh.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(1867-1869)TCC>TTC		ADAM metallopeptidase with thrombospondin type 1		C	PHE/SER,PHE/SER	2,4404	2.1+/-5.4	0,2,2201	76.0	65.0	68.0		1868,1877	5.3	1.0	10		68	0,8600		0,0,4300	no	missense,missense	ADAMTS14	NM_080722.3,NM_139155.2	155,155	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	623/1224,626/1227	72500862	2,13004	2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72500862C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1868C>T	10.37:g.72500862C>T	ENSP00000362303:p.Ser623Phe					ADAMTS14_uc001jrg.2_Missense_Mutation_p.S626F|ADAMTS14_uc001jri.1_Missense_Mutation_p.S146F	p.S623F	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			12	1868	+			623			Cys-rich.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1868C>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964089	0.74131	4.54E-4	0.0	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.06068	3.35;3.35	5.27	5.27	0.74061	.	0.146267	0.47455	D	0.000228	T	0.28234	0.0697	M	0.84433	2.695	0.39671	D	0.970758	D;D;D	0.63046	0.981;0.984;0.992	P;P;P	0.62014	0.875;0.897;0.897	T	0.04621	-1.0938	10	0.66056	D	0.02	.	18.6905	0.91581	0.0:1.0:0.0:0.0	.	556;623;626	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	F	626;623	ENSP00000362304:S626F;ENSP00000362303:S623F	ENSP00000362303:S623F	S	+	2	0	ADAMTS14	72170868	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.826000	0.69293	2.735000	0.93741	0.655000	0.94253	TCC		0.617	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		13	33	0	0	0	0	13	33				
FAM213A	84293	broad.mit.edu	37	10	82187156	82187156	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:82187156C>G	ENST00000372181.1	+	4	950	c.480C>G	c.(478-480)taC>taG	p.Y160*	FAM213A_ENST00000372187.5_Nonsense_Mutation_p.Y160*|FAM213A_ENST00000372185.1_Nonsense_Mutation_p.Y149*|FAM213A_ENST00000372188.1_Nonsense_Mutation_p.Y160*	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	160					oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)										GAGTGTGGTACAACTTCTTCC	0.488																																						uc001kcc.3		NA																	0					0						c.(478-480)TAC>TAG		hypothetical protein LOC84293 precursor							144.0	131.0	135.0					10																	82187156		2203	4300	6503	SO:0001587	stop_gained	84293					extracellular region		g.chr10:82187156C>G	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.480C>G	10.37:g.82187156C>G	ENSP00000361254:p.Tyr160*					C10orf58_uc001kcd.3_Nonsense_Mutation_p.Y149*|C10orf58_uc001kce.3_Nonsense_Mutation_p.Y160*|C10orf58_uc001kcf.3_Nonsense_Mutation_p.Y160*	p.Y160*	NM_032333	NP_115709	Q9BRX8	CJ058_HUMAN	Colorectal(32;0.229)		5	640	+			160					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Nonsense_Mutation	SNP	ENST00000372181.1	37	c.480C>G	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	C	39	7.312679	0.98203	.	.	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	.	.	.	5.97	-3.05	0.05396	.	1.390520	0.03993	N	0.295242	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-15.9541	2.599	0.04861	0.1047:0.2183:0.1977:0.4793	.	.	.	.	X	160;160;149;160	.	ENSP00000361254:Y160X	Y	+	3	2	C10orf58	82177136	0.025000	0.19082	0.011000	0.14972	0.998000	0.95712	0.198000	0.17217	-0.464000	0.06963	0.655000	0.94253	TAC		0.488	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			4	61	0	0	0	0	4	61				
PLCE1	51196	broad.mit.edu	37	10	95892130	95892130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:95892130C>T	ENST00000371380.3	+	2	1641	c.1406C>T	c.(1405-1407)tCt>tTt	p.S469F	PLCE1_ENST00000260766.3_Missense_Mutation_p.S469F|PLCE1_ENST00000371375.1_Missense_Mutation_p.S161F|PLCE1_ENST00000371385.3_Missense_Mutation_p.S161F			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	469			S -> T (in dbSNP:rs17508082).		activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCACCGGTTCTCTCCTAGAA	0.478																																						uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(1405-1407)TCT>TTT		phospholipase C, epsilon 1 isoform 1							134.0	133.0	133.0					10																	95892130		2073	4200	6273	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95892130C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1406C>T	10.37:g.95892130C>T	ENSP00000360431:p.Ser469Phe					PLCE1_uc010qnx.1_Missense_Mutation_p.S469F|PLCE1_uc001kjm.2_Missense_Mutation_p.S161F	p.S469F	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			3	2040	+		Colorectal(252;0.0458)	469					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1406C>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433863	0.62955	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	4.84	4.84	0.62591	Ras guanine nucleotide exchange factor, domain (1);	0.468107	0.19719	N	0.107636	T	0.69993	0.3173	N	0.24115	0.695	0.38491	D	0.947988	D;D;D	0.62365	0.973;0.958;0.991	P;P;P	0.52909	0.713;0.66;0.713	T	0.77056	-0.2729	10	0.87932	D	0	.	18.3193	0.90232	0.0:1.0:0.0:0.0	.	469;161;469	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	F	469;469;161;161	ENSP00000260766:S469F;ENSP00000360431:S469F;ENSP00000360438:S161F;ENSP00000360426:S161F	ENSP00000260766:S469F	S	+	2	0	PLCE1	95882120	1.000000	0.71417	0.998000	0.56505	0.424000	0.31475	5.634000	0.67833	2.383000	0.81215	0.563000	0.77884	TCT		0.478	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		7	94	0	0	0	0	7	94				
ENTPD7	57089	broad.mit.edu	37	10	101451214	101451214	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:101451214G>A	ENST00000370489.4	+	8	960	c.782G>A	c.(781-783)gGa>gAa	p.G261E		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	261						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GATATGGGAGGAGCCTCTCTC	0.453																																						uc001kqa.3		NA																	0				ovary(1)	1						c.(781-783)GGA>GAA		ectonucleoside triphosphate diphosphohydrolase							127.0	117.0	121.0					10																	101451214		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101451214G>A	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.782G>A	10.37:g.101451214G>A	ENSP00000359520:p.Gly261Glu					ENTPD7_uc009xwl.2_Missense_Mutation_p.G263E	p.G261E	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	8	960	+		Colorectal(252;0.234)	261			Vesicular (Potential).		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.782G>A	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849337	0.91277	.	.	ENSG00000198018	ENST00000370489	T	0.58797	0.31	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.84156	0.5410	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89121	0.3503	10	0.72032	D	0.01	-14.2625	18.5851	0.91187	0.0:0.0:1.0:0.0	.	261	Q9NQZ7	ENTP7_HUMAN	E	261	ENSP00000359520:G261E	ENSP00000359520:G261E	G	+	2	0	ENTPD7	101441204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.059000	0.76684	2.626000	0.88956	0.655000	0.94253	GGA		0.453	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		7	37	0	0	0	0	7	37				
PNLIPRP2	5408	broad.mit.edu	37	10	118394400	118394400	+	RNA	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:118394400A>T	ENST00000298771.7	+	0	891				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TTCGAGTATTACTCAAGCAGC	0.498																																						uc001lcq.2		NA																	0				large_intestine(1)	1						c.(868-870)TAC>TTC		pancreatic lipase-related protein 2							93.0	93.0	93.0					10																	118394400		1961	4179	6140			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118394400A>T	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118394400A>T						PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	p.Y290F	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	11	892	+			289					A8K627|Q6IB55	Missense_Mutation	SNP	ENST00000298771.7	37	c.869A>T		.	.	.	.	.	.	.	.	.	.	A	9.365	1.069073	0.20147	.	.	ENSG00000165862	ENST00000537242	D	0.88509	-2.39	5.51	5.51	0.81932	Lipase, N-terminal (1);	0.000000	0.48767	U	0.000168	T	0.80099	0.4561	.	.	.	0.24738	N	0.993055	P	0.45348	0.856	B	0.41988	0.372	T	0.70761	-0.4784	9	0.06365	T	0.9	.	14.8998	0.70670	1.0:0.0:0.0:0.0	.	289	P54317	LIPR2_HUMAN	F	289	ENSP00000446346:Y289F	ENSP00000446346:Y289F	Y	+	2	0	PNLIPRP2	118384390	1.000000	0.71417	0.534000	0.28014	0.109000	0.19521	6.431000	0.73395	2.226000	0.72624	0.377000	0.23210	TAC		0.498	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		7	34	0	0	0	0	7	34				
PHRF1	57661	broad.mit.edu	37	11	587346	587346	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:587346C>G	ENST00000264555.5	+	4	430	c.302C>G	c.(301-303)tCt>tGt	p.S101C	PHRF1_ENST00000533464.1_Missense_Mutation_p.S97C|PHRF1_ENST00000416188.2_Missense_Mutation_p.S101C|PHRF1_ENST00000413872.2_Missense_Mutation_p.S100C	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	101					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTTTCAATTCTGATGATGAT	0.562																																						uc001lqe.2		NA																	0					0						c.(301-303)TCT>TGT		PHD and ring finger domains 1							75.0	81.0	80.0					11																	587346		2003	4173	6176	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:587346C>G	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.302C>G	11.37:g.587346C>G	ENSP00000264555:p.Ser101Cys					PHRF1_uc010qwc.1_Missense_Mutation_p.S101C|PHRF1_uc010qwd.1_Missense_Mutation_p.S100C|PHRF1_uc010qwe.1_Missense_Mutation_p.S97C	p.S101C	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			4	433	+			101					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.302C>G		.	.	.	.	.	.	.	.	.	.	C	16.90	3.250075	0.59212	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.82803	-1.64;-1.63;-1.65;-1.63	4.81	4.81	0.61882	.	0.000000	0.36482	N	0.002568	D	0.90964	0.7159	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.92234	0.5795	10	0.72032	D	0.01	-17.4689	16.643	0.85134	0.0:1.0:0.0:0.0	.	97;100;101;101	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	C	101;100;101;97	ENSP00000264555:S101C;ENSP00000388589:S100C;ENSP00000410626:S101C;ENSP00000431870:S97C	ENSP00000264555:S101C	S	+	2	0	PHRF1	577346	1.000000	0.71417	0.632000	0.29296	0.037000	0.13140	7.448000	0.80631	2.208000	0.71279	0.561000	0.74099	TCT		0.562	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		17	31	0	0	0	0	17	31				
MUC5AC	4586	broad.mit.edu	37	11	1157901	1157901	+	Missense_Mutation	SNP	G	G	A	rs573714547		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:1157901G>A	ENST00000356191.2	+	13	959	c.959G>A	c.(958-960)gGg>gAg	p.G320E				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	323					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CATGCAGGGGGGTTGCCCCAG	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16590	0.0		0.0	False		,,,				2504	0.0					uc009ycr.1		NA																	0					0						c.(967-969)GGG>GAG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							69.0	71.0	71.0					11																	1157901		875	1990	2865	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1157901G>A	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.959G>A	11.37:g.1157901G>A	ENSP00000348519:p.Gly320Glu						p.G323E	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	9	1094	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	314					O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.968G>A		.	.	.	.	.	.	.	.	.	.	g	15.85	2.954888	0.53293	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.76709	-1.04;-1.04	3.19	3.19	0.36642	.	.	.	.	.	D	0.87585	0.6214	M	0.81179	2.53	.	.	.	D	0.89917	1.0	D	0.97110	1.0	D	0.90819	0.4707	8	0.54805	T	0.06	.	14.9425	0.71006	0.0:0.0:1.0:0.0	.	323	A7Y9J9	.	E	323;320	ENSP00000435591:G323E;ENSP00000348519:G320E	ENSP00000348519:G320E	G	+	2	0	MUC5AC	1147901	1.000000	0.71417	0.483000	0.27378	0.082000	0.17680	8.820000	0.92003	1.813000	0.52934	0.436000	0.28706	GGG		0.667	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		10	31	0	0	0	0	10	31				
LRRC4C	57689	broad.mit.edu	37	11	40137497	40137497	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:40137497C>T	ENST00000278198.2	-	2	2309	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	LRRC4C_ENST00000530763.1_Missense_Mutation_p.E116K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E116K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E116K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	116					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCCCCAATTTCAATGGTTCTG	0.428																																						uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(346-348)GAA>AAA		netrin-G1 ligand precursor							71.0	71.0	71.0					11																	40137497		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137497C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.346G>A	11.37:g.40137497C>T	ENSP00000278198:p.Glu116Lys					LRRC4C_uc001mxc.1_Missense_Mutation_p.E112K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E112K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E112K	p.E116K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2310	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	116			LRR 2.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.346G>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808816	0.70797	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	L	0.55990	1.75	0.80722	D	1	D	0.63046	0.992	P	0.60886	0.88	D	0.91061	0.4885	10	0.27785	T	0.31	.	18.8821	0.92360	0.0:1.0:0.0:0.0	.	116	Q9HCJ2	LRC4C_HUMAN	K	116	ENSP00000278198:E116K;ENSP00000436976:E116K;ENSP00000437132:E116K;ENSP00000434761:E116K	ENSP00000278198:E116K	E	-	1	0	LRRC4C	40094073	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.706000	0.92434	0.585000	0.79938	GAA		0.428	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		11	58	0	0	0	0	11	58				
OR5AR1	219493	broad.mit.edu	37	11	56431302	56431302	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:56431302C>G	ENST00000302969.2	+	1	165	c.141C>G	c.(139-141)atC>atG	p.I47M		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GTATGATTATCCTGATTACAA	0.473																																						uc010rjm.1		NA																	0					0						c.(139-141)ATC>ATG		olfactory receptor, family 5, subfamily AR,							285.0	279.0	281.0					11																	56431302		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431302C>G	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.141C>G	11.37:g.56431302C>G	ENSP00000302639:p.Ile47Met						p.I47M	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	141	+			47			Helical; Name=1; (Potential).		Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.141C>G	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	C	1.223	-0.626296	0.03610	.	.	ENSG00000172459	ENST00000302969	T	0.01998	4.51	5.25	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	0.279688	0.25570	N	0.029773	T	0.02267	0.0070	L	0.52364	1.645	0.09310	N	1	B	0.23540	0.087	B	0.22386	0.039	T	0.42632	-0.9440	10	0.33141	T	0.24	.	4.5468	0.12085	0.3651:0.4194:0.0:0.2155	.	47	Q8NGP9	O5AR1_HUMAN	M	47	ENSP00000302639:I47M	ENSP00000302639:I47M	I	+	3	3	OR5AR1	56187878	0.000000	0.05858	0.638000	0.29380	0.178000	0.23041	-4.207000	0.00274	0.357000	0.24183	0.637000	0.83480	ATC		0.473	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		10	183	0	0	0	0	10	183				
NRXN2	9379	broad.mit.edu	37	11	64428240	64428240	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:64428240G>A	ENST00000377551.1	-	9	2381	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000265459.6_Missense_Mutation_p.R724W|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.R693W|NRXN2_ENST00000409571.1_Missense_Mutation_p.R717W			Q9P2S2	NRX2A_HUMAN	neurexin 2	724	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCACAGACCCGCCCAAGAAAG	0.592																																						uc001oar.2		NA																	0				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(2170-2172)CGG>TGG		neurexin 2 isoform alpha-1 precursor							89.0	83.0	85.0					11																	64428240		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64428240G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2170C>T	11.37:g.64428240G>A	ENSP00000366774:p.Arg724Trp					NRXN2_uc001oas.2_Missense_Mutation_p.R693W|NRXN2_uc001oaq.2_Missense_Mutation_p.R391W	p.R724W	NM_015080	NP_055895	P58401	NRX2B_HUMAN			11	2609	-			Error:Variant_position_missing_in_P58401_after_alignment					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.2170C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675974	0.67928	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	4.21	4.21	0.49690	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.418712	0.16820	U	0.198194	T	0.71879	0.3392	L	0.59967	1.855	0.33360	D	0.57219	D;D;D	0.76494	0.996;0.999;0.997	D;P;P	0.65233	0.933;0.856;0.776	T	0.78661	-0.2117	10	0.72032	D	0.01	.	10.0489	0.42203	0.0:0.2051:0.7949:0.0	.	693;724;470	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	W	724;693;724;693;717	ENSP00000366774:R724W;ENSP00000366782:R693W;ENSP00000265459:R724W;ENSP00000386416:R717W	ENSP00000265459:R724W	R	-	1	2	NRXN2	64184816	0.003000	0.15002	1.000000	0.80357	0.996000	0.88848	0.533000	0.23082	2.185000	0.69588	0.555000	0.69702	CGG		0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		17	45	0	0	0	0	17	45				
RELT	84957	broad.mit.edu	37	11	73106303	73106303	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:73106303G>A	ENST00000064780.2	+	10	1479	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L	RP11-809N8.2_ENST00000544674.1_RNA|RELT_ENST00000393580.2_Silent_p.L406L	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	406						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CAAAGTGGCTGAAGCCCCCAG	0.642																																						uc001otv.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1216-1218)CTG>CTA		RELT tumor necrosis factor receptor precursor							25.0	27.0	27.0					11																	73106303		2195	4288	6483	SO:0001819	synonymous_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73106303G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.1218G>A	11.37:g.73106303G>A						RELT_uc001otw.2_Silent_p.L406L|RELT_uc001otx.2_RNA	p.L406L	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN			10	1383	+			406			Cytoplasmic (Potential).		Q86V34|Q96JU1|Q9BUX7	Silent	SNP	ENST00000064780.2	37	c.1218G>A	CCDS8222.1																																																																																				0.642	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		5	105	0	0	0	0	5	105				
SLC36A4	120103	broad.mit.edu	37	11	92918982	92918982	+	Splice_Site	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:92918982T>A	ENST00000326402.4	-	2	186		c.e2-2		SLC36A4_ENST00000529184.1_Splice_Site	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4						L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CATCCATATCTTTAAAAAAGA	0.333																																						uc001pdn.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.e2-1		solute carrier family 36 (proton/amino acid							60.0	60.0	60.0					11																	92918982		2201	4298	6499	SO:0001630	splice_region_variant	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92918982T>A	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.56-2A>T	11.37:g.92918982T>A						SLC36A4_uc001pdm.2_Splice_Site	p.D19_splice	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN			2	153	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)						Q86X30|Q8IVM5|Q8N8S6	Splice_Site	SNP	ENST00000326402.4	37	c.56_splice	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723077	0.48728	.	.	ENSG00000180773	ENST00000326402	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4088	0.67101	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC36A4	92558630	1.000000	0.71417	0.935000	0.37517	0.505000	0.33919	5.638000	0.67861	2.232000	0.73038	0.477000	0.44152	.		0.333	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2		Intron	9	13	0	0	0	0	9	13				
IL10RA	3587	broad.mit.edu	37	11	117864051	117864051	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:117864051G>T	ENST00000227752.3	+	4	583	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	IL10RA_ENST00000545409.1_Missense_Mutation_p.D6Y|IL10RA_ENST00000541785.1_Missense_Mutation_p.D135Y|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	155					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCCCGCAAATGACACATATGA	0.527																																						uc001prv.2		NA																	0				ovary(1)	1						c.(463-465)GAC>TAC		interleukin 10 receptor, alpha precursor							95.0	85.0	88.0					11																	117864051		2200	4296	6496	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117864051G>T	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.463G>T	11.37:g.117864051G>T	ENSP00000227752:p.Asp155Tyr					IL10RA_uc010rxl.1_Missense_Mutation_p.D135Y|IL10RA_uc010rxm.1_Missense_Mutation_p.D135Y|IL10RA_uc010rxn.1_Missense_Mutation_p.D6Y|IL10RA_uc001prw.2_Missense_Mutation_p.D6Y	p.D155Y	NM_001558	NP_001549	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	4	540	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	155			Extracellular (Potential).		A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.463G>T	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	8.359	0.832611	0.16820	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.54675	0.56;0.56;0.56	5.73	1.3	0.21679	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.629829	0.16370	N	0.217378	T	0.52240	0.1722	M	0.62723	1.935	0.09310	N	1	D;P	0.54207	0.965;0.941	P;P	0.48270	0.572;0.49	T	0.44667	-0.9313	10	0.56958	D	0.05	-16.6112	8.0007	0.30295	0.3803:0.0:0.6197:0.0	.	135;155	F5GYV8;Q13651	.;I10R1_HUMAN	Y	155;135;6;135	ENSP00000227752:D155Y;ENSP00000441397:D135Y;ENSP00000443019:D6Y	ENSP00000227752:D155Y	D	+	1	0	IL10RA	117369261	0.002000	0.14202	0.000000	0.03702	0.030000	0.12068	0.923000	0.28757	0.368000	0.24481	-0.136000	0.14681	GAC		0.527	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			4	38	1	0	0.00024832	0.000405577	4	38				
YARS2	51067	broad.mit.edu	37	12	32908286	32908286	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:32908286C>A	ENST00000324868.8	-	1	550	c.523G>T	c.(523-525)Gcc>Tcc	p.A175S		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	175					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TGGTACCAGGCCGAGTTGTCC	0.657											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rli.2		NA																	0					0						c.(523-525)GCC>TCC		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						48.0	49.0	48.0					12																	32908286		2203	4299	6502	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32908286C>A	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.523G>T	12.37:g.32908286C>A	ENSP00000320658:p.Ala175Ser		OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	836		p.A175S	NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN			1	589	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		175					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.523G>T	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506181	0.26949	.	.	ENSG00000139131	ENST00000324868	T	0.50548	0.74	4.91	4.03	0.46877	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.532254	0.22302	N	0.061860	T	0.20007	0.0481	N	0.03016	-0.435	0.22401	N	0.999138	B	0.02656	0.0	B	0.04013	0.001	T	0.06770	-1.0808	10	0.49607	T	0.09	-5.8017	3.5416	0.07814	0.2166:0.4514:0.2502:0.0818	.	175	Q9Y2Z4	SYYM_HUMAN	S	175	ENSP00000320658:A175S	ENSP00000320658:A175S	A	-	1	0	YARS2	32799553	0.061000	0.20836	0.322000	0.25334	0.991000	0.79684	0.454000	0.21827	1.319000	0.45190	0.644000	0.83932	GCC		0.657	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		17	22	1	0	0.000566183	0.000920482	17	22				
DDN	23109	broad.mit.edu	37	12	49392252	49392252	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:49392252C>G	ENST00000421952.2	-	2	428	c.407G>C	c.(406-408)cGa>cCa	p.R136P	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	136						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GGGGCTCCGTCGGGCCCCACC	0.741																																						uc001rsv.1		NA																	0				large_intestine(1)	1						c.(406-408)CGA>CCA		dendrin							7.0	8.0	8.0					12																	49392252		1947	3739	5686	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49392252C>G	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.407G>C	12.37:g.49392252C>G	ENSP00000390590:p.Arg136Pro					uc001rsw.2_5'UTR	p.R136P	NM_015086	NP_055901	O94850	DEND_HUMAN			2	425	-			136						Missense_Mutation	SNP	ENST00000421952.2	37	c.407G>C	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007041	0.19199	.	.	ENSG00000181418	ENST00000421952	T	0.59906	0.23	3.6	1.72	0.24424	.	0.000000	0.30781	N	0.008898	T	0.53351	0.1791	L	0.27053	0.805	0.33043	D	0.53166	D	0.76494	0.999	D	0.66351	0.943	T	0.57991	-0.7715	10	0.27082	T	0.32	-24.4128	5.0687	0.14594	0.0:0.726:0.0:0.274	.	136	O94850	DEND_HUMAN	P	136	ENSP00000390590:R136P	ENSP00000390590:R136P	R	-	2	0	DDN	47678519	1.000000	0.71417	0.994000	0.49952	0.007000	0.05969	2.414000	0.44627	0.810000	0.34279	-0.258000	0.10820	CGA		0.741	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			6	13	0	0	0	0	6	13				
SLC4A8	9498	broad.mit.edu	37	12	51851325	51851325	+	Splice_Site	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:51851325T>C	ENST00000453097.2	+	6	980		c.e6+2		SLC4A8_ENST00000358657.3_Splice_Site|SLC4A8_ENST00000514353.3_Splice_Site|SLC4A8_ENST00000535225.2_Splice_Site|SLC4A8_ENST00000394856.1_Splice_Site	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATAAACATGGTAAGATTATTA	0.388																																						uc001rys.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.e6+2		solute carrier family 4, sodium bicarbonate							124.0	114.0	117.0					12																	51851325		2203	4300	6503	SO:0001630	splice_region_variant	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51851325T>C	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.763+2T>C	12.37:g.51851325T>C						SLC4A8_uc010sni.1_Splice_Site_p.G202_splice|SLC4A8_uc001rym.2_Splice_Site_p.G202_splice|SLC4A8_uc001ryn.2_Splice_Site_p.G202_splice|SLC4A8_uc001ryo.2_Splice_Site_p.G202_splice|SLC4A8_uc001ryp.1_Splice_Site_p.G202_splice|SLC4A8_uc010snj.1_Splice_Site_p.G282_splice|SLC4A8_uc001ryq.3_Splice_Site_p.G255_splice|SLC4A8_uc001ryr.2_Splice_Site_p.G255_splice|SLC4A8_uc010snk.1_Splice_Site_p.G202_splice	p.G255_splice	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	6	941	+									Splice_Site	SNP	ENST00000453097.2	37	c.763_splice	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357070	0.82243	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6954	0.62575	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A8	50137592	1.000000	0.71417	0.964000	0.40570	0.979000	0.70002	7.999000	0.88496	2.186000	0.69663	0.533000	0.62120	.		0.388	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858	Intron	17	33	0	0	0	0	17	33				
SCN8A	6334	broad.mit.edu	37	12	52201213	52201213	+	Nonstop_Mutation	SNP	G	G	C	rs555793953	byFrequency	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:52201213G>C	ENST00000354534.6	+	27	6121	c.5943G>C	c.(5941-5943)taG>taC	p.*1981Y	SCN8A_ENST00000545061.1_Nonstop_Mutation_p.*1940Y|AC068987.1_ENST00000599343.1_5'Flank|RP11-923I11.3_ENST00000565518.1_lincRNA	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	0					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CCAAGTGTTAGAGGAGAACAA	0.393																																						uc001ryw.2		NA																	0				ovary(7)	7						c.(5941-5943)TAG>TAC		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						14.0	15.0	15.0					12																	52201213		1896	4128	6024	SO:0001578	stop_lost	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52201213G>C	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5943G>C	12.37:g.52201213G>C	ENSP00000346534:p.*1981Tyrext*35					uc001rzb.1_5'Flank	p.*1981Y	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	6121	+			1981					B9VWG8|O95788|Q9NYX2|Q9UPB2	Nonstop_Mutation	SNP	ENST00000354534.6	37	c.5943G>C	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498817	0.64298	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	.	.	.	4.93	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8523	0.18699	0.3191:0.0:0.6809:0.0	.	.	.	.	Y	1981;1940	.	.	X	+	3	2	SCN8A	50487480	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.847000	0.39299	1.445000	0.47624	0.655000	0.94253	TAG		0.393	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		2	4	0	0	0	0	2	4				
GLI1	2735	broad.mit.edu	37	12	57863427	57863427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:57863427C>G	ENST00000228682.2	+	11	1613	c.1522C>G	c.(1522-1524)Caa>Gaa	p.Q508E	GLI1_ENST00000543426.1_Missense_Mutation_p.Q380E|GLI1_ENST00000546141.1_Missense_Mutation_p.Q467E	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	508					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCAGCTACATCAACTCCGGCC	0.607																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NA																	0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(1522-1524)CAA>GAA		GLI family zinc finger 1 isoform 1							63.0	59.0	60.0					12																	57863427		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57863427C>G		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1522C>G	12.37:g.57863427C>G	ENSP00000228682:p.Gln508Glu					GLI1_uc009zpq.2_Missense_Mutation_p.Q380E	p.Q508E	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		11	1600	+			508					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1522C>G	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089064	0.36855	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.13657	2.68;2.57;2.66;2.66	4.62	3.72	0.42706	.	0.000000	0.50627	D	0.000112	T	0.12646	0.0307	L	0.46157	1.445	0.54753	D	0.999983	P	0.37864	0.61	B	0.35039	0.194	T	0.08391	-1.0724	10	0.32370	T	0.25	.	12.7699	0.57415	0.0:0.8336:0.1664:0.0	.	508	P08151	GLI1_HUMAN	E	380;508;467;467	ENSP00000437607:Q380E;ENSP00000228682:Q508E;ENSP00000441006:Q467E;ENSP00000434408:Q467E	ENSP00000228682:Q508E	Q	+	1	0	GLI1	56149694	1.000000	0.71417	0.995000	0.50966	0.444000	0.32077	6.240000	0.72363	1.278000	0.44430	-0.176000	0.13171	CAA		0.607	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		10	60	0	0	0	0	10	60				
SYT1	6857	broad.mit.edu	37	12	79689943	79689943	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:79689943A>T	ENST00000261205.4	+	7	1226	c.569A>T	c.(568-570)aAg>aTg	p.K190M	SYT1_ENST00000457153.2_Missense_Mutation_p.K187M|SYT1_ENST00000552744.1_Missense_Mutation_p.K190M|SYT1_ENST00000393240.3_Missense_Mutation_p.K190M	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	190	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CTACCTGATAAGAAGAAGAAA	0.418																																						uc001sys.2		NA																	0				skin(3)|pancreas(2)|ovary(1)	6						c.(568-570)AAG>ATG		synaptotagmin I							102.0	105.0	104.0					12																	79689943		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79689943A>T		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.569A>T	12.37:g.79689943A>T	ENSP00000261205:p.Lys190Met					SYT1_uc001syt.2_Missense_Mutation_p.K190M|SYT1_uc001syu.2_Missense_Mutation_p.K187M|SYT1_uc001syv.2_Missense_Mutation_p.K190M	p.K190M	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			8	1240	+			190			Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1.		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.569A>T	CCDS9017.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.1|24.1	4.489166|4.489166	0.84962|0.84962	.|.	.|.	ENSG00000067715|ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744|ENST00000549559	T;T;T;T|.	0.09723|.	2.95;2.95;2.95;2.95|.	5.52|5.52	5.52|5.52	0.82312|0.82312	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.043077|.	0.85682|.	D|.	0.000000|.	T|.	0.77384|.	0.4122|.	M|M	0.81341|0.81341	2.54|2.54	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.71414|.	0.973;0.973|.	T|.	0.78999|.	-0.1982|.	10|.	0.66056|.	D|.	0.02|.	.|.	15.9361|15.9361	0.79707|0.79707	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	190;190|.	Q6AI31;P21579|.	.;SYT1_HUMAN|.	M|X	190;190;187;190|92	ENSP00000376932:K190M;ENSP00000261205:K190M;ENSP00000391056:K187M;ENSP00000447575:K190M|.	ENSP00000261205:K190M|.	K|R	+|+	2|1	0|2	SYT1|SYT1	78214074|78214074	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	9.287000|9.287000	0.95975|0.95975	2.222000|2.222000	0.72286|0.72286	0.528000|0.528000	0.53228|0.53228	AAG|AGA		0.418	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		20	42	0	0	0	0	20	42				
PAWR	5074	broad.mit.edu	37	12	79988212	79988212	+	Splice_Site	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:79988212T>A	ENST00000328827.4	-	6	1205	c.833A>T	c.(832-834)gAa>gTa	p.E278V		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	278					actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TCTTACTACTTCCTGGTAGAT	0.294																																						uc001syx.2		NA																	0					0						c.(832-834)GAA>GTA		PRKC, apoptosis, WT1, regulator							105.0	101.0	103.0					12																	79988212		2200	4297	6497	SO:0001630	splice_region_variant	5074				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	g.chr12:79988212T>A	U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"""prostate apoptosis response-4"""	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.832-1A>T	12.37:g.79988212T>A							p.E278V	NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN			6	1119	-			278					O75796|Q6FHY9|Q8N700	Missense_Mutation	SNP	ENST00000328827.4	37	c.833A>T	CCDS31863.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361193	0.82353	.	.	ENSG00000177425	ENST00000328827;ENST00000550603	T;T	0.20332	2.08;2.08	5.8	5.8	0.92144	.	0.056992	0.64402	D	0.000002	T	0.39226	0.1070	L	0.46157	1.445	0.58432	D	0.999998	D	0.89917	1.0	D	0.71870	0.975	T	0.04579	-1.0941	9	.	.	.	-12.2094	15.8043	0.78481	0.0:0.0:0.0:1.0	.	278	Q96IZ0	PAWR_HUMAN	V	278;9	ENSP00000328088:E278V;ENSP00000447507:E9V	.	E	-	2	0	PAWR	78512343	1.000000	0.71417	0.998000	0.56505	0.865000	0.49528	5.285000	0.65633	2.209000	0.71365	0.460000	0.39030	GAA		0.294	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583	Missense_Mutation	8	16	0	0	0	0	8	16				
ACSS3	79611	broad.mit.edu	37	12	81503457	81503457	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:81503457T>A	ENST00000548058.1	+	2	1340	c.430T>A	c.(430-432)Ttt>Att	p.F144I	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Missense_Mutation_p.F143I			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	144						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TAAAGCAACCTTTACCTATAA	0.299																																						uc001szl.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(430-432)TTT>ATT		acyl-CoA synthetase short-chain family member 3							91.0	91.0	91.0					12																	81503457		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81503457T>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.430T>A	12.37:g.81503457T>A	ENSP00000449535:p.Phe144Ile					ACSS3_uc001szm.1_Missense_Mutation_p.F143I	p.F144I	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			2	521	+			144					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.430T>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	T	4.445	0.082450	0.08533	.	.	ENSG00000111058	ENST00000549175;ENST00000548058;ENST00000261206	T;T;T	0.37411	1.2;1.2;1.2	6.07	3.56	0.40772	.	0.195031	0.52532	N	0.000069	T	0.10981	0.0268	N	0.02345	-0.59	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19257	-1.0311	10	0.02654	T	1	-10.0931	5.8285	0.18566	0.6318:0.0:0.0721:0.2961	.	144	Q9H6R3	ACSS3_HUMAN	I	36;144;143	ENSP00000447748:F36I;ENSP00000449535:F144I;ENSP00000261206:F143I	ENSP00000261206:F143I	F	+	1	0	ACSS3	80027588	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	2.409000	0.44583	1.050000	0.40346	-0.438000	0.05819	TTT		0.299	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		7	25	0	0	0	0	7	25				
EEA1	8411	broad.mit.edu	37	12	93213152	93213152	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:93213152G>C	ENST00000322349.8	-	14	1924	c.1660C>G	c.(1660-1662)Cag>Gag	p.Q554E		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	554	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCACCAGCCTGAATTTTTGCA	0.313																																						uc001tck.2		NA																	0				ovary(2)|skin(1)	3						c.(1660-1662)CAG>GAG		early endosome antigen 1, 162kD							74.0	76.0	75.0					12																	93213152		2202	4297	6499	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93213152G>C	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1660C>G	12.37:g.93213152G>C	ENSP00000317955:p.Gln554Glu						p.Q554E	NM_003566	NP_003557	Q15075	EEA1_HUMAN			14	1925	-			554			Gln/Glu/Lys-rich.|Potential.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.1660C>G	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102162	0.76983	.	.	ENSG00000102189	ENST00000322349	T	0.75704	-0.96	5.68	5.68	0.88126	.	0.000000	0.50627	D	0.000112	T	0.74966	0.3786	N	0.24115	0.695	0.80722	D	1	D	0.54964	0.969	D	0.64877	0.93	T	0.66681	-0.5862	10	0.02654	T	1	.	19.7851	0.96433	0.0:0.0:1.0:0.0	.	554	Q15075	EEA1_HUMAN	E	554	ENSP00000317955:Q554E	ENSP00000317955:Q554E	Q	-	1	0	EEA1	91737283	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.817000	0.99352	2.688000	0.91661	0.557000	0.71058	CAG		0.313	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		6	30	0	0	0	0	6	30				
ANO4	121601	broad.mit.edu	37	12	101510564	101510564	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:101510564T>C	ENST00000392977.3	+	25	2768	c.2558T>C	c.(2557-2559)cTt>cCt	p.L853P	ANO4_ENST00000550015.1_Missense_Mutation_p.L373P|ANO4_ENST00000392979.3_Missense_Mutation_p.L818P|ANO4_ENST00000299222.9_Missense_Mutation_p.L373P			Q32M45	ANO4_HUMAN	anoctamin 4	853					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGGACTCCTCTTAAGTACTGC	0.542										HNSCC(74;0.22)																												uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(2557-2559)CTT>CCT		anoctamin 4							161.0	145.0	150.0					12																	101510564		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101510564T>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2558T>C	12.37:g.101510564T>C	ENSP00000376703:p.Leu853Pro	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.L818P|ANO4_uc001thx.2_Missense_Mutation_p.L853P|ANO4_uc001thy.2_Missense_Mutation_p.L373P	p.L853P	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			25	3130	+			853			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2558T>C		.	.	.	.	.	.	.	.	.	.	T	13.65	2.300608	0.40694	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.70164	-0.45;-0.32;-0.46;-0.32	5.6	5.6	0.85130	.	0.090404	0.46758	D	0.000271	T	0.52075	0.1712	N	0.02697	-0.525	0.80722	D	1	P;P;P	0.48503	0.763;0.911;0.891	B;P;B	0.49252	0.35;0.604;0.35	T	0.61840	-0.6980	10	0.38643	T	0.18	.	15.7897	0.78345	0.0:0.0:0.0:1.0	.	373;853;818	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	P	818;373;853;373	ENSP00000376705:L818P;ENSP00000299222:L373P;ENSP00000376703:L853P;ENSP00000450192:L373P	ENSP00000299222:L373P	L	+	2	0	ANO4	100034695	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.689000	0.74562	2.117000	0.64856	0.460000	0.39030	CTT		0.542	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		4	81	0	0	0	0	4	81				
UTP20	27340	broad.mit.edu	37	12	101779782	101779782	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:101779782A>G	ENST00000261637.4	+	62	8413	c.8239A>G	c.(8239-8241)Atg>Gtg	p.M2747V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2747	Nuclear localization signal.|Nucleolar localization signal.				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAGAAAAAAATGAAGAAACA	0.308																																						uc001tia.1		NA																	0				ovary(2)|breast(2)	4						c.(8239-8241)ATG>GTG		down-regulated in metastasis							62.0	69.0	66.0					12																	101779782		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101779782A>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.8239A>G	12.37:g.101779782A>G	ENSP00000261637:p.Met2747Val						p.M2747V	NM_014503	NP_055318	O75691	UTP20_HUMAN			62	8395	+			2747			Nuclear localization signal.|Potential.|Nucleolar localization signal.		Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.8239A>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.777738	0.31502	.	.	ENSG00000120800	ENST00000261637	T	0.16897	2.31	5.93	0.822	0.18806	.	0.220414	0.39687	N	0.001294	T	0.09555	0.0235	L	0.27053	0.805	0.24703	N	0.99324	B	0.02656	0.0	B	0.01281	0.0	T	0.20840	-1.0263	10	0.38643	T	0.18	-6.2754	5.2336	0.15436	0.2558:0.484:0.0:0.2601	.	2747	O75691	UTP20_HUMAN	V	2747	ENSP00000261637:M2747V	ENSP00000261637:M2747V	M	+	1	0	UTP20	100303913	0.601000	0.26907	0.999000	0.59377	0.903000	0.53119	-0.168000	0.09925	0.220000	0.20860	-1.139000	0.01908	ATG		0.308	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		23	51	0	0	0	0	23	51				
MYBPC1	4604	broad.mit.edu	37	12	102036248	102036248	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:102036248G>A	ENST00000550270.1	+	9	642	c.642G>A	c.(640-642)ctG>ctA	p.L214L	MYBPC1_ENST00000361466.2_Silent_p.L239L|MYBPC1_ENST00000547405.1_Silent_p.L188L|MYBPC1_ENST00000551300.1_Silent_p.L115L|MYBPC1_ENST00000545503.2_Silent_p.L214L|MYBPC1_ENST00000360610.2_Silent_p.L214L|MYBPC1_ENST00000361685.2_Silent_p.L239L|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Silent_p.L195L|MYBPC1_ENST00000452455.2_Silent_p.L214L|MYBPC1_ENST00000547509.1_Silent_p.L200L|MYBPC1_ENST00000541119.1_Silent_p.L202L|MYBPC1_ENST00000441232.1_Silent_p.L214L|MYBPC1_ENST00000553190.1_Silent_p.L214L|MYBPC1_ENST00000549145.1_Silent_p.L227L|MYBPC1_ENST00000392934.3_Silent_p.L201L			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	214					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GGGAGTTGCTGAAGAACGCGA	0.562																																						uc001tii.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(640-642)CTG>CTA		myosin binding protein C, slow type isoform 3							128.0	105.0	113.0					12																	102036248		2203	4300	6503	SO:0001819	synonymous_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102036248G>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.642G>A	12.37:g.102036248G>A						MYBPC1_uc001tif.1_Silent_p.L227L|MYBPC1_uc001tig.2_Silent_p.L239L|MYBPC1_uc010svq.1_Silent_p.L201L|MYBPC1_uc001tih.2_Silent_p.L239L|MYBPC1_uc001tij.2_Silent_p.L214L|MYBPC1_uc010svr.1_Silent_p.L214L|MYBPC1_uc010svs.1_Silent_p.L214L|MYBPC1_uc010svt.1_Silent_p.L202L|MYBPC1_uc010svu.1_Silent_p.L195L|MYBPC1_uc001tik.2_Silent_p.L188L	p.L214L	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			9	744	+			214					B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.642G>A	CCDS9085.1																																																																																				0.562	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			15	43	0	0	0	0	15	43				
ATP2A2	488	broad.mit.edu	37	12	110764234	110764234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:110764234C>T	ENST00000539276.2	+	7	693	c.584C>T	c.(583-585)cCt>cTt	p.P195L	ATP2A2_ENST00000395494.2_Missense_Mutation_p.P168L|ATP2A2_ENST00000308664.6_Missense_Mutation_p.P195L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	195					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GATCCCGTCCCTGACCCACGA	0.423																																						uc001tqk.3		NA																	0				ovary(3)|skin(1)	4						c.(583-585)CCT>CTT		ATPase, Ca++ transporting, slow twitch 2 isoform							121.0	108.0	112.0					12																	110764234		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110764234C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.584C>T	12.37:g.110764234C>T	ENSP00000440045:p.Pro195Leu					ATP2A2_uc001tql.3_Missense_Mutation_p.P195L|ATP2A2_uc010sxy.1_Missense_Mutation_p.P168L	p.P195L	NM_170665	NP_733765	P16615	AT2A2_HUMAN			7	1147	+			195			Cytoplasmic (By similarity).		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.584C>T	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.278129	0.80692	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.87029	-2.2;-2.2;-2.2	5.32	5.32	0.75619	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	N	0.25094	0.71	0.80722	D	1	B;B;B	0.18013	0.007;0.025;0.013	B;B;B	0.16722	0.011;0.015;0.016	T	0.74711	-0.3573	10	0.33141	T	0.24	.	19.4275	0.94749	0.0:1.0:0.0:0.0	.	168;195;195	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	L	195;168;195	ENSP00000311186:P195L;ENSP00000378872:P168L;ENSP00000440045:P195L	ENSP00000311186:P195L	P	+	2	0	ATP2A2	109248617	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.665000	0.90641	0.650000	0.86243	CCT		0.423	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		4	25	0	0	0	0	4	25				
SBNO1	55206	broad.mit.edu	37	12	123780467	123780467	+	Missense_Mutation	SNP	C	C	G	rs367778431		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:123780467C>G	ENST00000602398.1	-	32	4297	c.4170G>C	c.(4168-4170)ttG>ttC	p.L1390F	SBNO1_ENST00000267176.4_Missense_Mutation_p.L1389F|SBNO1_ENST00000602750.1_Missense_Mutation_p.L1389F|SBNO1_ENST00000420886.2_Missense_Mutation_p.L1390F			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1390					regulation of transcription, DNA-templated (GO:0006355)			p.L1389F(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATGCGTTGCTCAAGTTGGTGA	0.428																																						uc010tap.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(4168-4170)TTG>TTC		sno, strawberry notch homolog 1							436.0	397.0	411.0					12																	123780467		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780467C>G	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4170G>C	12.37:g.123780467C>G	ENSP00000473665:p.Leu1390Phe					SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.L1389F|SBNO1_uc010taq.1_Missense_Mutation_p.L341F	p.L1390F	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4170	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1390					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4170G>C	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247255	0.22880	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.33438	1.41;1.41	5.89	5.0	0.66597	.	0.281397	0.30850	N	0.008751	T	0.16257	0.0391	N	0.03608	-0.345	0.28484	N	0.914839	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09058	-1.0692	10	0.36615	T	0.2	-5.4402	15.4844	0.75555	0.0:0.5814:0.4186:0.0	.	1390;1389	A3KN83;A3KN83-2	SBNO1_HUMAN;.	F	1390;1389	ENSP00000387361:L1390F;ENSP00000267176:L1389F	ENSP00000267176:L1389F	L	-	3	2	SBNO1	122346420	0.999000	0.42202	1.000000	0.80357	0.947000	0.59692	0.461000	0.21940	1.484000	0.48361	0.561000	0.74099	TTG		0.428	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		8	257	0	0	0	0	8	257				
GJB2	2706	broad.mit.edu	37	13	20763385	20763385	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:20763385C>T	ENST00000382844.1	-	1	534	c.336G>A	c.(334-336)aaG>aaA	p.K112K	GJB2_ENST00000382848.4_Silent_p.K112K			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	112				K -> N (in Ref. 4; AAY25170). {ECO:0000305}.	cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TAAATTCACTCTTTATCTCCC	0.532									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001umy.2		NA																	0					0						c.(334-336)AAG>AAA		gap junction protein beta 2							112.0	105.0	108.0					13																	20763385		2203	4300	6503	SO:0001819	synonymous_variant	2706	Keratitis_Ichthyosis_and_Deafness_syndrome	Familial Cancer Database	KID syndrome	cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane		g.chr13:20763385C>T	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"""Ion channels / Gap junction proteins (connexins)"""	4284	protein-coding gene	gene with protein product	"""connexin 26"""	121011	"""gap junction protein, beta 2, 26kD (connexin 26)"", ""gap junction protein, beta 2, 26kDa (connexin 26)"""	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.336G>A	13.37:g.20763385C>T			OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	743		p.K112K	NM_004004	NP_003995	P29033	CXB2_HUMAN		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)	2	551	-		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	112	K -> N (in Ref. 4; AAY25170).		Cytoplasmic (Potential).		Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Silent	SNP	ENST00000382844.1	37	c.336G>A	CCDS9290.1																																																																																				0.532	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044064.1			18	57	0	0	0	0	18	57				
FRY	10129	broad.mit.edu	37	13	32869543	32869543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:32869543C>A	ENST00000380250.3	+	61	9484	c.8988C>A	c.(8986-8988)taC>taA	p.Y2996*	FRY_ENST00000542859.1_Nonsense_Mutation_p.Y366*|RP11-37E23.5_ENST00000418076.1_RNA|FRY_ENST00000380217.1_Nonsense_Mutation_p.Y178*	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2996						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCCAGAGTTACCGAGTCCTCA	0.567																																						uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(8986-8988)TAC>TAA		furry homolog							101.0	104.0	103.0					13																	32869543		1973	4137	6110	SO:0001587	stop_gained	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32869543C>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8988C>A	13.37:g.32869543C>A	ENSP00000369600:p.Tyr2996*					FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Nonsense_Mutation_p.Y527*|FRY_uc010tdx.1_Nonsense_Mutation_p.Y366*	p.Y2996*	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	61	9484	+		Lung SC(185;0.0271)	2996					Q9Y3N6	Nonsense_Mutation	SNP	ENST00000380250.3	37	c.8988C>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006780	0.54361	.	.	ENSG00000073910	ENST00000380250;ENST00000542859;ENST00000380217	.	.	.	5.57	4.73	0.59995	.	0.062847	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4335	0.67266	0.0:0.9291:0.0:0.0709	.	.	.	.	X	2996;366;178	.	ENSP00000369565:Y178X	Y	+	3	2	FRY	31767543	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	3.212000	0.51145	1.358000	0.45922	0.650000	0.86243	TAC		0.567	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		20	46	1	0	1.26e-06	2.11e-06	20	46				
BRCA2	675	broad.mit.edu	37	13	32950881	32950881	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:32950881G>A	ENST00000380152.3	+	21	8940	c.8707G>A	c.(8707-8709)Gag>Aag	p.E2903K	BRCA2_ENST00000544455.1_Missense_Mutation_p.E2903K			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2903					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGATGGTGCAGAGCTTTATGA	0.388			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(8707-8709)GAG>AAG	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							105.0	94.0	98.0					13																	32950881		2203	4300	6503	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32950881G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8707G>A	13.37:g.32950881G>A	ENSP00000369497:p.Glu2903Lys	TCGA Ovarian(8;0.087)					p.E2903K	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	21	8934	+		Lung SC(185;0.0262)	2903					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8707G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546581	0.96488	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.68181	-0.31;-0.31	5.32	5.32	0.75619	Nucleic acid-binding, OB-fold-like (1);	0.052314	0.85682	D	0.000000	T	0.81264	0.4786	M	0.70275	2.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.69654	0.965	T	0.82536	-0.0408	10	0.59425	D	0.04	.	19.0012	0.92834	0.0:0.0:1.0:0.0	.	2903	P51587	BRCA2_HUMAN	K	2903	ENSP00000369497:E2903K;ENSP00000439902:E2903K	ENSP00000369497:E2903K	E	+	1	0	BRCA2	31848881	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.923000	0.87546	2.469000	0.83416	0.655000	0.94253	GAG		0.388	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		5	26	0	0	0	0	5	26				
DIAPH3	81624	broad.mit.edu	37	13	60544172	60544172	+	Silent	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:60544172A>T	ENST00000400324.4	-	17	2200	c.1980T>A	c.(1978-1980)acT>acA	p.T660T	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Silent_p.T614T|DIAPH3_ENST00000377908.2_Silent_p.T649T|DIAPH3_ENST00000400319.1_Silent_p.T590T|DIAPH3_ENST00000267215.4_Silent_p.T660T|DIAPH3_ENST00000400330.1_Silent_p.T660T	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	660	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AACAGTTTTCAGTCATTTCAT	0.353																																						uc001vht.2		NA																	0				ovary(2)	2						c.(1978-1980)ACT>ACA		diaphanous homolog 3 isoform a							50.0	48.0	49.0					13																	60544172		1831	4076	5907	SO:0001819	synonymous_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60544172A>T	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1980T>A	13.37:g.60544172A>T						DIAPH3_uc001vhu.2_Silent_p.T397T|DIAPH3_uc001vhv.2_Silent_p.T238T	p.T660T	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	17	2199	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	660			FH2.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	37	c.1980T>A	CCDS41898.1																																																																																				0.353	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		7	7	0	0	0	0	7	7				
TDRD3	81550	broad.mit.edu	37	13	61068665	61068665	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:61068665T>G	ENST00000196169.3	+	8	1323	c.535T>G	c.(535-537)Tca>Gca	p.S179A	TDRD3_ENST00000377881.2_Missense_Mutation_p.S179A|TDRD3_ENST00000535286.1_Missense_Mutation_p.S272A|TDRD3_ENST00000377894.2_Missense_Mutation_p.S179A	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	179					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GAAAGAAAAGTCAACCAAATC	0.363																																					Colon(36;164 906 35820 50723)	uc001via.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(535-537)TCA>GCA		tudor domain containing 3 isoform 2							111.0	106.0	107.0					13																	61068665		2203	4300	6503	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61068665T>G	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.535T>G	13.37:g.61068665T>G	ENSP00000196169:p.Ser179Ala					TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Missense_Mutation_p.S179A|TDRD3_uc010aeg.2_Missense_Mutation_p.S272A|TDRD3_uc001vib.3_Missense_Mutation_p.S178A	p.S179A	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	8	1323	+		Prostate(109;0.173)|Breast(118;0.174)	179					B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.535T>G	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	T	9.229	1.035360	0.19590	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	6.16	-12.3	0.00002	UBA-like (1);	1.022490	0.07776	N	0.952609	T	0.72423	0.3458	N	0.03608	-0.345	0.18873	N	0.999981	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.63175	-0.6696	10	0.06891	T	0.86	0.6534	3.5635	0.07890	0.173:0.4322:0.2287:0.166	.	272;178;179	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	A	179;179;179;272	ENSP00000196169:S179A;ENSP00000367113:S179A;ENSP00000367126:S179A;ENSP00000440190:S272A	ENSP00000196169:S179A	S	+	1	0	TDRD3	59966666	0.181000	0.23161	0.224000	0.23877	0.968000	0.65278	-0.209000	0.09358	-1.818000	0.01218	-0.256000	0.11100	TCA		0.363	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		6	36	0	0	0	0	6	36				
DACH1	1602	broad.mit.edu	37	13	72063278	72063278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:72063278C>T	ENST00000359684.2	-	8	1734	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	DACH1_ENST00000354591.4_Missense_Mutation_p.E325K|DACH1_ENST00000305425.4_Missense_Mutation_p.E527K|DACH1_ENST00000313174.7_Missense_Mutation_p.E379K			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	579					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGCGGGGTCTCATCTGCATGT	0.428																																						uc010thn.1		NA																	0				breast(1)	1						c.(1573-1575)GAG>AAG		dachshund homolog 1 isoform a							178.0	176.0	177.0					13																	72063278		1898	4136	6034	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72063278C>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1735G>A	13.37:g.72063278C>T	ENSP00000352712:p.Glu579Lys					DACH1_uc010tho.1_Missense_Mutation_p.E377K|DACH1_uc010thp.1_Missense_Mutation_p.E323K	p.E525K	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	8	1996	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	577					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1573G>A		.	.	.	.	.	.	.	.	.	.	C	17.22	3.334008	0.60853	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.36878	1.26;1.41;1.47;1.23	5.03	5.03	0.67393	.	0.109676	0.64402	D	0.000012	T	0.58192	0.2105	M	0.68593	2.085	0.27850	N	0.940788	D;D;B	0.69078	0.982;0.997;0.073	P;D;B	0.64237	0.831;0.923;0.076	T	0.56105	-0.8034	10	0.72032	D	0.01	-9.7557	18.7128	0.91664	0.0:1.0:0.0:0.0	.	323;377;525	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	K	527;379;325;579;579	ENSP00000304994:E527K;ENSP00000318506:E379K;ENSP00000346604:E325K;ENSP00000352712:E579K	ENSP00000304994:E527K	E	-	1	0	DACH1	70961279	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.336000	0.79245	2.502000	0.84385	0.650000	0.86243	GAG		0.428	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		26	109	0	0	0	0	26	109				
TBC1D4	9882	broad.mit.edu	37	13	75873593	75873593	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:75873593C>A	ENST00000377636.3	-	17	3375	c.3029G>T	c.(3028-3030)gGg>gTg	p.G1010V	TBC1D4_ENST00000377625.2_Missense_Mutation_p.G947V|TBC1D4_ENST00000425511.1_Missense_Mutation_p.G174V|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G1002V|TBC1D4_ENST00000478591.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1010	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AAAGCTGATCCCCTGACAGTA	0.493																																						uc001vjl.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3028-3030)GGG>GTG		TBC1 domain family, member 4							58.0	64.0	62.0					13																	75873593		1951	4154	6105	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75873593C>A	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3029G>T	13.37:g.75873593C>A	ENSP00000366863:p.Gly1010Val					TBC1D4_uc010tht.1_Missense_Mutation_p.G220V|TBC1D4_uc010thu.1_Missense_Mutation_p.G167V|TBC1D4_uc010aer.2_Missense_Mutation_p.G1002V|TBC1D4_uc010aes.2_Missense_Mutation_p.G947V	p.G1010V	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	17	3376	-		Prostate(6;0.014)|Breast(118;0.0982)	1010			Rab-GAP TBC.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.3029G>T	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119556	0.94385	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.63	5.63	0.86233	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000001	T	0.81856	0.4911	H	0.98155	4.16	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	0.88453	0.3050	10	0.87932	D	0	-21.6227	19.6818	0.95967	0.0:1.0:0.0:0.0	.	174;947;1002;1010	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	V	1010;1002;947;174	ENSP00000366863:G1010V;ENSP00000395986:G1002V;ENSP00000366852:G947V;ENSP00000390654:G174V	ENSP00000366852:G947V	G	-	2	0	TBC1D4	74771594	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.487000	0.81328	2.641000	0.89580	0.591000	0.81541	GGG		0.493	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		19	30	1	0	5.35e-11	9.07e-11	19	30				
NALCN	259232	broad.mit.edu	37	13	101890129	101890129	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:101890129G>A	ENST00000251127.6	-	12	1492	c.1411C>T	c.(1411-1413)Cat>Tat	p.H471Y	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.H471Y	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	471					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATTGTGAATGATAAAGATCT	0.308																																						uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(1411-1413)CAT>TAT		voltage gated channel like 1							165.0	179.0	174.0					13																	101890129		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101890129G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1411C>T	13.37:g.101890129G>A	ENSP00000251127:p.His471Tyr					NALCN_uc001voy.2_Missense_Mutation_p.H186Y|NALCN_uc001voz.2_Missense_Mutation_p.H471Y|NALCN_uc001vpa.2_Missense_Mutation_p.H471Y	p.H471Y	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			12	1600	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		471			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1411C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	8.131	0.783077	0.16189	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.97232	-4.3;-4.3	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95072	0.8404	N	0.22421	0.69	0.80722	D	1	P;D;P	0.57257	0.919;0.979;0.919	P;P;B	0.53593	0.73;0.636;0.303	D	0.92289	0.5840	10	0.02654	T	1	.	19.1638	0.93546	0.0:0.0:1.0:0.0	.	471;471;471	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	Y	471	ENSP00000251127:H471Y;ENSP00000365367:H471Y	ENSP00000251127:H471Y	H	-	1	0	NALCN	100688130	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.414000	0.97362	2.593000	0.87608	0.491000	0.48974	CAT		0.308	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		39	130	0	0	0	0	39	130				
TUBGCP3	10426	broad.mit.edu	37	13	113223541	113223541	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:113223541G>A	ENST00000261965.3	-	2	295	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.R37W	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	37					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CCAATCACCCGCACAGCATAC	0.433																																						uc001vse.1		NA																	0				central_nervous_system(1)	1						c.(109-111)CGG>TGG		tubulin, gamma complex associated protein 3							101.0	91.0	95.0					13																	113223541		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113223541G>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.109C>T	13.37:g.113223541G>A	ENSP00000261965:p.Arg37Trp					TUBGCP3_uc010tjq.1_Missense_Mutation_p.R37W|TUBGCP3_uc001vsf.2_Missense_Mutation_p.R37W|TUBGCP3_uc001vsg.1_Missense_Mutation_p.R37W	p.R37W	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN			2	296	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		37					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.109C>T	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708674	0.68615	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.28454	1.65;1.61	4.99	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	M	0.82823	2.61	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.981;1.0;0.999;0.998	T	0.62793	-0.6779	10	0.87932	D	0	-14.9994	12.1778	0.54196	0.0:0.0:0.557:0.443	.	37;37;37;37	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	W	37	ENSP00000261965:R37W;ENSP00000364821:R37W	ENSP00000261965:R37W	R	-	1	2	TUBGCP3	112271542	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	2.637000	0.46553	1.054000	0.40438	0.543000	0.68304	CGG		0.433	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		15	42	0	0	0	0	15	42				
OR4Q3	441669	broad.mit.edu	37	14	20216405	20216405	+	Silent	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:20216405C>A	ENST00000331723.1	+	1	819	c.819C>A	c.(817-819)tcC>tcA	p.S273S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATATTCTCCTTGTTTTACA	0.433																																						uc010tkt.1		NA																	0				breast(3)	3						c.(817-819)TCC>TCA		olfactory receptor, family 4, subfamily Q,							152.0	154.0	154.0					14																	20216405		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216405C>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.819C>A	14.37:g.20216405C>A							p.S273S	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	819	+	all_cancers(95;0.00108)		273			Helical; Name=7; (Potential).		Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.819C>A	CCDS32020.1																																																																																				0.433	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			20	157	1	0	7.42e-09	1.25e-08	20	157				
MYH7	4625	broad.mit.edu	37	14	23884302	23884302	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:23884302C>G	ENST00000355349.3	-	37	5623	c.5461G>C	c.(5461-5463)Gag>Cag	p.E1821Q	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1821					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTCCAGCTCCCGCACCCGC	0.627																																						uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(5461-5463)GAG>CAG		myosin, heavy chain 7, cardiac muscle, beta							94.0	93.0	93.0					14																	23884302		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884302C>G	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5461G>C	14.37:g.23884302C>G	ENSP00000347507:p.Glu1821Gln						p.E1821Q	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	37	5567	-	all_cancers(95;2.54e-05)		1821			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.5461G>C	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811367	0.70797	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.81247	-1.47	5.27	4.37	0.52481	Myosin tail (1);	.	.	.	.	D	0.90086	0.6903	M	0.82716	2.605	0.46131	D	0.998885	D	0.89917	1.0	D	0.91635	0.999	D	0.91866	0.5503	9	0.87932	D	0	.	15.9042	0.79406	0.0:0.8643:0.1356:0.0	.	1821	P12883	MYH7_HUMAN	Q	1821;1826	ENSP00000347507:E1821Q	ENSP00000347507:E1821Q	E	-	1	0	MYH7	22954142	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.494000	0.66905	1.428000	0.47296	0.563000	0.77884	GAG		0.627	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		16	109	0	0	0	0	16	109				
KIAA0391	9692	broad.mit.edu	37	14	35593231	35593231	+	Silent	SNP	A	A	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:35593231A>C	ENST00000557565.1	+	2	1161	c.780A>C	c.(778-780)gtA>gtC	p.V260V	KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Silent_p.V165V|PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000603544.1_Silent_p.V260V|KIAA0391_ENST00000534898.4_Silent_p.V260V|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000250377.7_Silent_p.V165V|KIAA0391_ENST00000321130.10_Silent_p.V260V|KIAA0391_ENST00000603588.1_Intron	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	260					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		ATCAAGATGTAAACACAGCTT	0.343																																						uc001wsy.1		NA																	0					0						c.(778-780)GTA>GTC		mitochondrial RNase P protein 3 precursor							49.0	48.0	48.0					14																	35593231		2203	4300	6503	SO:0001819	synonymous_variant	9692				tRNA processing	mitochondrion		g.chr14:35593231A>C	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.780A>C	14.37:g.35593231A>C						KIAA0391_uc010tps.1_Silent_p.V165V|KIAA0391_uc001wsz.1_Silent_p.V260V|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Silent_p.V260V|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.2_5'Flank|PPP2R3C_uc001wst.2_5'Flank|PPP2R3C_uc010tpr.1_5'Flank|PPP2R3C_uc001wsu.2_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.2_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	p.V260V	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	1140	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		260					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	37	c.780A>C	CCDS32063.1																																																																																				0.343	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		9	20	0	0	0	0	9	20				
MDGA2	161357	broad.mit.edu	37	14	47504427	47504427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:47504427C>G	ENST00000399232.2	-	8	1763	c.1399G>C	c.(1399-1401)Gta>Cta	p.V467L	MDGA2_ENST00000426342.1_Missense_Mutation_p.V238L|MDGA2_ENST00000439988.3_Missense_Mutation_p.V536L|MDGA2_ENST00000357362.3_Missense_Mutation_p.V238L	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	467	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTGCCAGTTACTTGACATTGC	0.413																																						uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1399-1401)GTA>CTA		MAM domain containing 1 isoform 1							227.0	197.0	207.0					14																	47504427		1925	4142	6067	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504427C>G	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1399G>C	14.37:g.47504427C>G	ENSP00000382178:p.Val467Leu					MDGA2_uc001wwi.3_Missense_Mutation_p.V238L|MDGA2_uc010ani.2_Missense_Mutation_p.V27L	p.V467L	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			8	1595	-			467			Ig-like 5.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1399G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.94|16.94	3.261341|3.261341	0.59431|0.59431	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000554762|ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.|T;T;T;T	.|0.74421	.|-0.84;-0.84;-0.84;-0.84	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.142496	.|0.30911	.|U	.|0.008640	T|T	0.81578|0.81578	0.4852|0.4852	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	.|P;D	.|0.55385	.|0.729;0.971	.|P;P	.|0.53102	.|0.499;0.718	T|T	0.81824|0.81824	-0.0755|-0.0755	5|10	.|0.39692	.|T	.|0.17	.|.	11.4787|11.4787	0.50312|0.50312	0.0:0.9176:0.0:0.0824|0.0:0.9176:0.0:0.0824	.|.	.|238;467	.|F6W3S7;Q7Z553	.|.;MDGA2_HUMAN	T|L	241|467;238;536;238	.|ENSP00000400011:V467L;ENSP00000405456:V238L;ENSP00000382178:V536L;ENSP00000349925:V238L	.|ENSP00000349925:V238L	S|V	-|-	2|1	0|0	MDGA2|MDGA2	46574177|46574177	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.091000|6.091000	0.71406|0.71406	2.608000|2.608000	0.88229|0.88229	0.491000|0.491000	0.48974|0.48974	AGT|GTA		0.413	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		32	75	0	0	0	0	32	75				
KCNH5	27133	broad.mit.edu	37	14	63175134	63175134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:63175134C>T	ENST00000322893.7	-	11	2327	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	687					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGCGCTCCTCCTCCTCTTTC	0.493																																						uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2059-2061)GAG>AAG		potassium voltage-gated channel, subfamily H,							77.0	82.0	81.0					14																	63175134		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63175134C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2059G>A	14.37:g.63175134C>T	ENSP00000321427:p.Glu687Lys					KCNH5_uc001xfy.2_3'UTR	p.E687K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2110	-			687			Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2059G>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694813	0.88830	.	.	ENSG00000140015	ENST00000322893	T	0.18174	2.23	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.75615	2.305	0.80722	D	1	D	0.62365	0.991	D	0.64595	0.927	T	0.10847	-1.0612	10	0.37606	T	0.19	.	19.4558	0.94889	0.0:1.0:0.0:0.0	.	687	Q8NCM2	KCNH5_HUMAN	K	687	ENSP00000321427:E687K	ENSP00000321427:E687K	E	-	1	0	KCNH5	62244887	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.611000	0.88343	0.655000	0.94253	GAG		0.493	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		16	68	0	0	0	0	16	68				
EXD2	55218	broad.mit.edu	37	14	69701456	69701456	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:69701456C>T	ENST00000409018.3	+	5	885	c.757C>T	c.(757-759)Ctc>Ttc	p.L253F	EXD2_ENST00000409014.1_Missense_Mutation_p.L128F|EXD2_ENST00000449989.1_Missense_Mutation_p.L128F|EXD2_ENST00000409242.1_Missense_Mutation_p.L128F|EXD2_ENST00000409949.1_Missense_Mutation_p.L128F|EXD2_ENST00000312994.5_Missense_Mutation_p.L253F|EXD2_ENST00000492815.1_Intron|EXD2_ENST00000409675.1_Missense_Mutation_p.L128F	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	253							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TTCAGTGGCTCTCTTTCTTCA	0.433																																						uc001xkt.2		NA																	0					0						c.(382-384)CTC>TTC		exonuclease 3'-5' domain containing 2							50.0	53.0	52.0					14																	69701456		2203	4300	6503	SO:0001583	missense	55218				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69701456C>T	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.757C>T	14.37:g.69701456C>T	ENSP00000387331:p.Leu253Phe					EXD2_uc001xku.2_Intron|EXD2_uc001xkv.2_Missense_Mutation_p.L253F|EXD2_uc001xkw.2_Missense_Mutation_p.L128F|EXD2_uc010aqt.2_Missense_Mutation_p.L253F|EXD2_uc010tte.1_Missense_Mutation_p.L253F|EXD2_uc001xky.2_Missense_Mutation_p.L128F	p.L128F	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN			7	1041	+			128					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	c.382C>T	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396564	0.83011	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.42	4.47	0.54385	-5&apos (1);Ribonuclease H-like (1); exonuclease (1);3&apos (1);	0.058169	0.64402	D	0.000001	D	0.84933	0.5582	M	0.86420	2.815	0.80722	D	1	D;D	0.57571	0.977;0.98	P;D	0.65573	0.894;0.936	D	0.87424	0.2384	10	0.72032	D	0.01	-13.8462	15.8956	0.79333	0.0:0.7596:0.2404:0.0	.	253;128	G5E947;Q9NVH0	.;EXD2_HUMAN	F	253;253;128;128;128;128;253;128	ENSP00000387331:L253F;ENSP00000386915:L128F;ENSP00000386762:L128F;ENSP00000386632:L128F;ENSP00000386839:L128F;ENSP00000313140:L253F;ENSP00000392177:L128F	ENSP00000193422:L253F	L	+	1	0	EXD2	68771209	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.467000	0.45093	2.706000	0.92434	0.650000	0.86243	CTC		0.433	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			9	26	0	0	0	0	9	26				
HEATR4	399671	broad.mit.edu	37	14	73959074	73959074	+	Intron	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:73959074G>C	ENST00000553558.1	-	17	3166				C14orf169_ENST00000531973.1_RNA|HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TGGAGTTTCGGAGGGGTCTGC	0.547																																						uc001xok.1		NA																	0					0						c.(1351-1353)CGG>CGC		chromosome 14 open reading frame 169							50.0	51.0	51.0					14																	73959074		1941	4124	6065	SO:0001627	intron_variant	79697				negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:73959074G>C	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2844+695C>G	14.37:g.73959074G>C						HEATR4_uc010tua.1_Intron	p.R451R	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)	3	1432	+			451					B7Z7V9|E9KL41	Silent	SNP	ENST00000553558.1	37	c.1353G>C	CCDS9815.2																																																																																				0.547	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		13	45	0	0	0	0	13	45				
SEL1L	6400	broad.mit.edu	37	14	81972553	81972553	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:81972553C>T	ENST00000336735.4	-	4	489	c.373G>A	c.(373-375)Gag>Aag	p.E125K	SEL1L_ENST00000555824.1_Missense_Mutation_p.E125K	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	125	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.|Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGGCAGGGCTCCCCATGTGCT	0.438																																						uc010tvv.1		NA																	0				ovary(1)	1						c.(373-375)GAG>AAG		sel-1 suppressor of lin-12-like precursor							77.0	71.0	73.0					14																	81972553		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81972553C>T		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.373G>A	14.37:g.81972553C>T	ENSP00000337053:p.Glu125Lys					SEL1L_uc001xvo.3_Missense_Mutation_p.E125K	p.E125K	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	4	490	-			125			Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Fibronectin type-II.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.373G>A	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	36	5.939934	0.97128	.	.	ENSG00000071537	ENST00000336735;ENST00000555824	T;T	0.09630	2.96;2.96	6.14	6.14	0.99180	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	L	0.48260	1.515	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.98;0.997	T	0.00086	-1.2095	10	0.27082	T	0.32	-7.7372	20.819	0.99723	0.0:1.0:0.0:0.0	.	125;125	Q9UBV2;Q9UBV2-2	SE1L1_HUMAN;.	K	125	ENSP00000337053:E125K;ENSP00000450709:E125K	ENSP00000337053:E125K	E	-	1	0	SEL1L	81042306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.787000	0.69013	2.927000	0.99377	0.637000	0.83480	GAG		0.438	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		12	39	0	0	0	0	12	39				
SLC24A4	123041	broad.mit.edu	37	14	92959967	92959967	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:92959967G>A	ENST00000532405.1	+	17	2090	c.1864G>A	c.(1864-1866)Gat>Aat	p.D622N	SLC24A4_ENST00000531433.1_Missense_Mutation_p.D603N|SLC24A4_ENST00000298877.1_Missense_Mutation_p.D605N|SLC24A4_ENST00000393265.2_Missense_Mutation_p.D558N|SLC24A4_ENST00000351924.5_Missense_Mutation_p.D586N			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	622					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.D605H(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCGGGAAGACGATTAGCGCTG	0.547																																					NSCLC(10;315 435 10383 28450 38798)	uc001yak.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1813-1815)GAT>AAT		solute carrier family 24 member 4 isoform 1							127.0	104.0	112.0					14																	92959967		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92959967G>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1864G>A	14.37:g.92959967G>A	ENSP00000431840:p.Asp622Asn					SLC24A4_uc001yai.2_Missense_Mutation_p.D558N|SLC24A4_uc010twm.1_Missense_Mutation_p.D603N|SLC24A4_uc001yaj.2_Missense_Mutation_p.D586N|SLC24A4_uc010auj.2_3'UTR|SLC24A4_uc010twn.1_Missense_Mutation_p.D378N|SLC24A4_uc001yan.2_Missense_Mutation_p.D316N	p.D605N	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	17	1837	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	622			Extracellular (Potential).		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.1813G>A	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199500	0.38806	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.70516	-0.42;-0.06;-0.03;-0.44;-0.49	5.51	5.51	0.81932	.	0.355002	0.26680	N	0.023048	T	0.62986	0.2473	N	0.08118	0	0.26144	N	0.980235	D;P	0.71674	0.998;0.821	P;B	0.56216	0.794;0.101	T	0.60444	-0.7262	10	0.72032	D	0.01	.	11.0373	0.47808	0.0:0.1466:0.7192:0.1341	.	603;622	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	N	558;603;622;605;586	ENSP00000376948:D558N;ENSP00000433302:D603N;ENSP00000431840:D622N;ENSP00000298877:D605N;ENSP00000337789:D586N	ENSP00000298877:D605N	D	+	1	0	SLC24A4	92029720	0.665000	0.27466	0.921000	0.36526	0.289000	0.27227	0.894000	0.28350	2.582000	0.87167	0.655000	0.94253	GAT		0.547	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		4	20	0	0	0	0	4	20				
FAM181A	90050	broad.mit.edu	37	14	94395169	94395169	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:94395169G>A	ENST00000267594.5	+	3	1031	c.724G>A	c.(724-726)Gag>Aag	p.E242K	FAM181A_ENST00000557000.2_Missense_Mutation_p.E180K|FAM181A_ENST00000556222.1_Missense_Mutation_p.E180K|FAM181A_ENST00000557719.1_Missense_Mutation_p.E180K|FAM181A-AS1_ENST00000554742.1_RNA	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	242										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CCTGGGACCTGAGACTACCCT	0.622																																						uc001ybz.1		NA																	0					0						c.(724-726)GAG>AAG		hypothetical protein LOC90050							44.0	42.0	43.0					14																	94395169		2203	4300	6503	SO:0001583	missense	90050							g.chr14:94395169G>A	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.724G>A	14.37:g.94395169G>A	ENSP00000267594:p.Glu242Lys					C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Missense_Mutation_p.E180K|FAM181A_uc001yca.1_Missense_Mutation_p.E180K	p.E242K	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN			3	1031	+			242					B2RD39|Q96GY1	Missense_Mutation	SNP	ENST00000267594.5	37	c.724G>A	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	G	8.663	0.901041	0.17760	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	4.74	4.74	0.60224	.	0.350893	0.21517	N	0.073287	T	0.39489	0.1080	L	0.51422	1.61	0.19775	N	0.999959	P	0.44139	0.827	P	0.46758	0.526	T	0.29610	-1.0006	10	0.51188	T	0.08	-15.5269	11.2728	0.49148	0.0839:0.0:0.9161:0.0	.	242	Q8N9Y4	F181A_HUMAN	K	180;242;180;180;231	ENSP00000451802:E180K;ENSP00000267594:E242K;ENSP00000451678:E180K;ENSP00000452393:E180K	ENSP00000267594:E242K	E	+	1	0	FAM181A	93464922	0.474000	0.25886	0.638000	0.29380	0.069000	0.16628	3.114000	0.50383	2.196000	0.70406	0.561000	0.74099	GAG		0.622	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		4	33	0	0	0	0	4	33				
DDX24	57062	broad.mit.edu	37	14	94521392	94521392	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:94521392C>T	ENST00000330836.5	-	7	2259	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K	DDX24_ENST00000555054.1_Missense_Mutation_p.E667K|DDX24_ENST00000544005.1_Missense_Mutation_p.E460K	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	710	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGGATATCCTCATCTTTCTTG	0.463																																						uc001ycj.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(2128-2130)GAG>AAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 24							324.0	296.0	306.0					14																	94521392		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94521392C>T	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.2128G>A	14.37:g.94521392C>T	ENSP00000328690:p.Glu710Lys					DDX24_uc010twq.1_Missense_Mutation_p.E667K|DDX24_uc010twr.1_Missense_Mutation_p.E460K	p.E710K	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	7	2227	-		all_cancers(154;0.12)	710			Helicase C-terminal.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.2128G>A	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323672	0.81580	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.03386	4.03;3.95;4.03	5.73	5.73	0.89815	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.03959	0.0111	N	0.04959	-0.14	0.58432	D	0.999997	B	0.25955	0.138	B	0.33690	0.168	T	0.57877	-0.7735	10	0.72032	D	0.01	-28.6236	19.8853	0.96910	0.0:1.0:0.0:0.0	.	710	Q9GZR7	DDX24_HUMAN	K	710;460;655;336;667;667	ENSP00000328690:E710K;ENSP00000440623:E460K;ENSP00000452145:E667K	ENSP00000328690:E710K	E	-	1	0	DDX24	93591145	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.022000	0.70839	2.701000	0.92244	0.655000	0.94253	GAG		0.463	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		32	149	0	0	0	0	32	149				
IFI27L1	122509	broad.mit.edu	37	14	94567115	94567115	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:94567115G>C	ENST00000555523.1	+	3	278	c.59G>C	c.(58-60)gGa>gCa	p.G20A	IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000393115.3_Missense_Mutation_p.G20A|IFI27L1_ENST00000557218.1_Missense_Mutation_p.G20A|IFI27L1_ENST00000556381.1_Missense_Mutation_p.G19A|IFI27L1_ENST00000557066.1_Missense_Mutation_p.G20A|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000553664.1_Missense_Mutation_p.R42S|IFI27L1_ENST00000554562.1_Missense_Mutation_p.G20A	NM_206949.2	NP_996832.1	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	20						integral component of membrane (GO:0016021)				lung(2)	2						GTGGTCGGAGGAGGTGAGTCT	0.542																																						uc001ycl.2		NA																	0					0						c.(58-60)GGA>GCA		interferon, alpha-inducible protein 27-like 1							86.0	91.0	89.0					14																	94567115		2203	4300	6503	SO:0001583	missense	122509					integral to membrane		g.chr14:94567115G>C	BC015423	CCDS9919.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000165948			19754	protein-coding gene	gene with protein product		611320	"""family with sequence similarity 14, member B"""	FAM14B			Standard	NM_145249		Approved		uc001yck.3	Q96BM0		ENST00000555523.1:c.59G>C	14.37:g.94567115G>C	ENSP00000451851:p.Gly20Ala					IFI27L1_uc001yck.2_Missense_Mutation_p.G20A	p.G20A	NM_206949	NP_996832	Q96BM0	I27L1_HUMAN			3	267	+			20			Helical; (Potential).			Missense_Mutation	SNP	ENST00000555523.1	37	c.59G>C	CCDS9919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.92|11.92	1.782487|1.782487	0.31502|0.31502	.|.	.|.	ENSG00000165948|ENSG00000165948	ENST00000555523;ENST00000393115;ENST00000554166;ENST00000556381;ENST00000555341;ENST00000557218;ENST00000557066;ENST00000554562|ENST00000553664	T;T;T;T;T;T|.	0.38722|.	1.12;1.12;1.12;1.12;1.12;1.12|.	2.98|2.98	1.04|1.04	0.20106|0.20106	.|.	0.429582|.	0.16027|.	N|.	0.233031|.	T|T	0.20210|0.20210	0.0486|0.0486	N|N	0.20685|0.20685	0.6|0.6	0.23865|0.23865	N|N	0.996621|0.996621	B|.	0.33135|.	0.399|.	B|.	0.32762|.	0.152|.	T|T	0.22800|0.22800	-1.0206|-1.0206	10|5	0.02654|.	T|.	1|.	.|.	3.511|3.511	0.07708|0.07708	0.1395:0.0:0.6117:0.2489|0.1395:0.0:0.6117:0.2489	.|.	20|.	Q96BM0|.	I27L1_HUMAN|.	A|S	20;20;19;19;19;20;20;20|42	ENSP00000451851:G20A;ENSP00000376824:G20A;ENSP00000452226:G19A;ENSP00000451459:G19A;ENSP00000451608:G19A;ENSP00000450620:G20A|.	ENSP00000376824:G20A|.	G|R	+|+	2|3	0|2	IFI27L1|IFI27L1	93636868|93636868	0.988000|0.988000	0.35896|0.35896	0.860000|0.860000	0.33809|0.33809	0.119000|0.119000	0.20118|0.20118	0.275000|0.275000	0.18698|0.18698	0.309000|0.309000	0.22966|0.22966	-0.555000|-0.555000	0.04198|0.04198	GGA|AGG		0.542	IFI27L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412868.1	NM_206949		14	62	0	0	0	0	14	62				
ATG2B	55102	broad.mit.edu	37	14	96757161	96757161	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:96757161T>C	ENST00000359933.4	-	39	6584	c.5691A>G	c.(5689-5691)ctA>ctG	p.L1897L	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1897					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.L1897L(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTAATTGTACTAGTGAATGCA	0.348																																						uc001yfi.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|kidney(1)|skin(1)	3						c.(5689-5691)CTA>CTG		ATG2 autophagy related 2 homolog B							104.0	110.0	108.0					14																	96757161		2203	4300	6503	SO:0001819	synonymous_variant	55102							g.chr14:96757161T>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5691A>G	14.37:g.96757161T>C							p.L1897L	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	39	6056	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1897					Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	c.5691A>G	CCDS9944.2																																																																																				0.348	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		26	66	0	0	0	0	26	66				
AKT1	207	broad.mit.edu	37	14	105246455	105246455	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:105246455C>T	ENST00000554581.1	-	2	1625	c.145G>A	c.(145-147)Gag>Aag	p.E49K	AKT1_ENST00000402615.2_Missense_Mutation_p.E49K|AKT1_ENST00000554848.1_Missense_Mutation_p.E49K|AKT1_ENST00000349310.3_Missense_Mutation_p.E49K|AKT1_ENST00000407796.2_Missense_Mutation_p.E49K|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000555528.1_Missense_Mutation_p.E49K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	49	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E49K(1)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	AGGGGAGCCTCACGTTGGTCC	0.587		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	uc001ypk.2		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			breast|colorectal|ovarian|NSCLC		1	Substitution - Missense(1)	p.E49K(1)	urinary_tract(1)	breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134						c.(145-147)GAG>AAG		AKT1 kinase	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						125.0	108.0	114.0					14																	105246455		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246455C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.145G>A	14.37:g.105246455C>T	ENSP00000451828:p.Glu49Lys					INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.E49K|AKT1_uc010axa.2_Missense_Mutation_p.E49K|AKT1_uc001ypm.2_Missense_Mutation_p.E49K|AKT1_uc001ypn.2_Missense_Mutation_p.E49K|AKT1_uc010tyk.1_5'Flank	p.E49K	NM_005163	NP_005154	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	3	699	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	49			PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.145G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	8.246	0.807896	0.16467	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.77	0.436	0.16549	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.21631	0.0521	N	0.16130	0.375	0.40092	D	0.976269	B	0.26708	0.157	B	0.33121	0.158	T	0.09952	-1.0651	10	0.06891	T	0.86	.	9.2885	0.37771	0.2664:0.4753:0.2583:0.0	.	49	P31749	AKT1_HUMAN	K	49	ENSP00000451828:E49K;ENSP00000384293:E49K;ENSP00000270202:E49K;ENSP00000385326:E49K;ENSP00000450688:E49K;ENSP00000451166:E49K;ENSP00000451824:E49K	ENSP00000270202:E49K	E	-	1	0	AKT1	104317500	0.867000	0.29959	0.000000	0.03702	0.108000	0.19459	2.934000	0.48956	0.193000	0.20303	0.462000	0.41574	GAG		0.587	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		11	13	0	0	0	0	11	13				
ATP10A	57194	broad.mit.edu	37	15	25963462	25963462	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr15:25963462C>A	ENST00000356865.6	-	8	1559	c.1448G>T	c.(1447-1449)aGc>aTc	p.S483I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	483					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTGCCGATGCTGCCGCGCTG	0.711																																						uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(1447-1449)AGC>ATC		ATPase, class V, type 10A							28.0	25.0	26.0					15																	25963462		2200	4296	6496	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25963462C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1448G>T	15.37:g.25963462C>A	ENSP00000349325:p.Ser483Ile						p.S483I	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	8	1554	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	483			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.1448G>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196326	0.78902	.	.	ENSG00000206190	ENST00000356865	T	0.11495	2.77	5.14	4.22	0.49857	HAD-like domain (1);	0.188990	0.56097	D	0.000034	T	0.27098	0.0664	M	0.77820	2.39	0.47905	D	0.999543	D	0.57257	0.979	P	0.57468	0.821	T	0.01367	-1.1373	10	0.44086	T	0.13	-23.6287	13.0272	0.58823	0.0:0.9224:0.0:0.0776	.	483	O60312	AT10A_HUMAN	I	483	ENSP00000349325:S483I	ENSP00000349325:S483I	S	-	2	0	ATP10A	23514555	1.000000	0.71417	0.557000	0.28306	0.702000	0.40608	3.157000	0.50716	2.382000	0.81193	0.655000	0.94253	AGC		0.711	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		11	8	1	0	6.4e-05	0.000105201	11	8				
MYO5A	4644	broad.mit.edu	37	15	52656782	52656782	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr15:52656782T>A	ENST00000399231.3	-	24	3521	c.3278A>T	c.(3277-3279)gAt>gTt	p.D1093V	MYO5A_ENST00000358212.6_Missense_Mutation_p.D1093V|MYO5A_ENST00000399233.2_Missense_Mutation_p.D1093V|MYO5A_ENST00000356338.6_Missense_Mutation_p.D1093V|MYO5A_ENST00000553916.1_Missense_Mutation_p.D1093V	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1093					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTTGAGGTCATCATATCTTTC	0.338																																						uc002aby.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(3277-3279)GAT>GTT		myosin VA isoform 1							159.0	142.0	147.0					15																	52656782		1840	4085	5925	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52656782T>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3278A>T	15.37:g.52656782T>A	ENSP00000382177:p.Asp1093Val					MYO5A_uc002abx.3_Missense_Mutation_p.D1093V	p.D1093V	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	24	3522	-			1093			Potential.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.3278A>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.461283	0.84317	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.22	5.22	0.72569	.	0.047236	0.85682	D	0.000000	T	0.25754	0.0627	L	0.57536	1.79	0.80722	D	1	P;P	0.34587	0.458;0.458	B;B	0.28553	0.091;0.083	T	0.03761	-1.1006	10	0.34782	T	0.22	.	15.3971	0.74805	0.0:0.0:0.0:1.0	.	1093;1093	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	V	1093;627;1093;1093;1093;723;1093	ENSP00000382177:D1093V;ENSP00000382179:D1093V;ENSP00000348693:D1093V;ENSP00000350945:D1093V;ENSP00000451109:D1093V	ENSP00000348693:D1093V	D	-	2	0	MYO5A	50444074	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.839000	0.69395	2.094000	0.63399	0.533000	0.62120	GAT		0.338	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		25	54	0	0	0	0	25	54				
TLN2	83660	broad.mit.edu	37	15	63128147	63128147	+	Missense_Mutation	SNP	C	C	G	rs140723056	byFrequency	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr15:63128147C>G	ENST00000561311.1	+	56	7479	c.7249C>G	c.(7249-7251)Cag>Gag	p.Q2417E	RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.Q2417E|RP11-1069G10.1_ENST00000558888.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2417	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGCCTCCGTTCAGGGACACGC	0.647													C|||	2	0.000399361	0.0	0.0	5008	,	,		18655	0.002		0.0	False		,,,				2504	0.0					uc002alb.3		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(7249-7251)CAG>GAG		talin 2							50.0	50.0	50.0					15																	63128147		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63128147C>G	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7249C>G	15.37:g.63128147C>G	ENSP00000453508:p.Gln2417Glu					TLN2_uc002alc.3_Missense_Mutation_p.Q810E|TLN2_uc010uic.1_Missense_Mutation_p.Q18E|uc002ale.1_5'Flank	p.Q2417E	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			54	7249	+			2417			I/LWEQ.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.7249C>G	CCDS32261.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	21.2	4.119469	0.77323	.	.	ENSG00000171914	ENST00000306829	T	0.41400	1.0	5.22	5.22	0.72569	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.67515	0.2901	M	0.89414	3.03	0.49915	D	0.999835	B;P	0.51933	0.41;0.949	B;P	0.58970	0.349;0.849	T	0.70594	-0.4829	10	0.37606	T	0.19	-13.8786	18.7693	0.91885	0.0:1.0:0.0:0.0	.	18;2417	B4DGF3;Q9Y4G6	.;TLN2_HUMAN	E	2417	ENSP00000303476:Q2417E	ENSP00000303476:Q2417E	Q	+	1	0	TLN2	60915200	1.000000	0.71417	0.955000	0.39395	0.908000	0.53690	7.776000	0.85560	2.449000	0.82847	0.455000	0.32223	CAG		0.647	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			5	37	0	0	0	0	5	37				
CALML4	91860	broad.mit.edu	37	15	68489825	68489825	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr15:68489825A>T	ENST00000467889.1	-	4	630	c.446T>A	c.(445-447)cTg>cAg	p.L149Q	RP11-315D16.2_ENST00000562767.1_Silent_p.P75P|CALML4_ENST00000395465.3_Intron|CALML4_ENST00000540479.1_Missense_Mutation_p.L73Q|CALML4_ENST00000448060.2_Missense_Mutation_p.L102Q	NM_033429.2	NP_219501.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	149	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TTTTGACCGCAGGTCGGACGC	0.498																																						uc002arb.2		NA																	0					0						c.(445-447)CTG>CAG		calmodulin-like 4 isoform 1							158.0	153.0	155.0					15																	68489825		1981	4136	6117	SO:0001583	missense	91860						calcium ion binding	g.chr15:68489825A>T	AF308287	CCDS10226.2, CCDS42052.1, CCDS66808.1	15q22.31	2013-01-10			ENSG00000129007	ENSG00000129007		"""EF-hand domain containing"""	18445	protein-coding gene	gene with protein product							Standard	NM_033429		Approved	MGC4809, NY-BR-20	uc002arb.3	Q96GE6	OTTHUMG00000133287	ENST00000467889.1:c.446T>A	15.37:g.68489825A>T	ENSP00000419081:p.Leu149Gln					CALML4_uc002arc.2_Missense_Mutation_p.L102Q|CALML4_uc002ard.2_RNA|CALML4_uc002are.2_RNA|CALML4_uc010bhz.2_Intron	p.L149Q	NM_033429	NP_219501	Q96GE6	CALL4_HUMAN			4	1180	-			149			EF-hand 3.		B4DL15|F8W6Y4|Q6MZY3|Q6N048|Q9H286	Missense_Mutation	SNP	ENST00000467889.1	37	c.446T>A	CCDS10226.2	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910960	0.72983	.	.	ENSG00000129007	ENST00000478113;ENST00000448060;ENST00000395463;ENST00000540479;ENST00000467889	D;D;D	0.87179	-2.22;-2.22;-2.22	5.02	5.02	0.67125	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	H	0.98996	4.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97934	1.0322	10	0.87932	D	0	-20.9474	14.7059	0.69189	1.0:0.0:0.0:0.0	.	102;149	F8W6Y4;Q96GE6	.;CALL4_HUMAN	Q	34;102;34;73;149	ENSP00000400755:L102Q;ENSP00000438177:L73Q;ENSP00000419081:L149Q	ENSP00000435285:L34Q	L	-	2	0	CALML4	66276879	1.000000	0.71417	0.998000	0.56505	0.455000	0.32408	8.844000	0.92147	2.024000	0.59613	0.402000	0.26972	CTG		0.498	CALML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257067.3	NM_033429		21	71	0	0	0	0	21	71				
ERCC4	2072	broad.mit.edu	37	16	14020442	14020442	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:14020442G>A	ENST00000311895.7	+	3	422	c.413G>A	c.(412-414)aGa>aAa	p.R138K	ERCC4_ENST00000575156.1_Missense_Mutation_p.R138K	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	138	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGAGCCCACAGAATAATCGAG	0.388			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002dce.2		NA	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(412-414)AGA>AAA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							147.0	144.0	145.0					16																	14020442		2197	4300	6497	SO:0001583	missense	2072	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14020442G>A	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.413G>A	16.37:g.14020442G>A	ENSP00000310520:p.Arg138Lys					ERCC4_uc010bva.2_Missense_Mutation_p.R138K	p.R138K	NM_005236	NP_005227	Q92889	XPF_HUMAN			3	422	+			138					A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.413G>A	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	7.673	0.687372	0.14973	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.56941	0.43	5.28	5.28	0.74379	.	0.193644	0.56097	D	0.000027	T	0.26810	0.0656	N	0.04746	-0.17	0.35562	D	0.804775	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.31336	-0.9947	10	0.09338	T	0.73	-25.7625	9.6577	0.39936	0.1588:0.0:0.8412:0.0	.	138;138	A5PKV6;Q92889	.;XPF_HUMAN	K	138;127;127	ENSP00000310520:R138K	ENSP00000310520:R138K	R	+	2	0	ERCC4	13927943	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.924000	0.70054	2.452000	0.82932	0.655000	0.94253	AGA		0.388	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		6	98	0	0	0	0	6	98				
C16orf46	123775	broad.mit.edu	37	16	81087678	81087678	+	Nonstop_Mutation	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:81087678A>G	ENST00000378611.4	-	4	1280	c.1165T>C	c.(1165-1167)Tag>Cag	p.*389Q	RP11-303E16.8_ENST00000564536.1_RNA|RP11-303E16.5_ENST00000562450.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCCTCTCCTACTTTATCTTC	0.408																																						uc010chf.2		NA																	0					0						c.(1165-1167)TAG>CAG		chromosome 16 open reading frame 46 isoform 1							258.0	237.0	244.0					16																	81087678		1882	4126	6008	SO:0001578	stop_lost	123775							g.chr16:81087678A>G	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000378611.4:c.1165T>C	16.37:g.81087678A>G	ENSP00000367874:p.*389Gluext*10						p.*389Q	NM_001100873	NP_001094343	Q6P387	CP046_HUMAN			4	1335	-			389					Q96MA7	Nonstop_Mutation	SNP	ENST00000378611.4	37	c.1165T>C	CCDS42201.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.695416	0.30052	.	.	ENSG00000166455	ENST00000378611	.	.	.	4.25	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6437	0.22923	0.8888:0.0:0.1112:0.0	.	.	.	.	Q	389	.	.	X	-	1	0	C16orf46	79645179	0.893000	0.30496	0.996000	0.52242	0.541000	0.35023	1.473000	0.35387	0.635000	0.30488	0.533000	0.62120	TAG		0.408	C16orf46-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269055.1	NM_152337		16	38	0	0	0	0	16	38				
MBTPS1	8720	broad.mit.edu	37	16	84108251	84108251	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:84108251T>A	ENST00000343411.3	-	12	2039	c.1544A>T	c.(1543-1545)aAt>aTt	p.N515I	MBTPS1_ENST00000569770.1_Intron	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	515					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GATGGTGACATTAACAACTGT	0.478																																						uc002fhi.2		NA																	0				ovary(2)	2						c.(1543-1545)AAT>ATT		membrane-bound transcription factor site-1							122.0	100.0	108.0					16																	84108251		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84108251T>A	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1544A>T	16.37:g.84108251T>A	ENSP00000344223:p.Asn515Ile					MBTPS1_uc002fhh.2_Missense_Mutation_p.N19I	p.N515I	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			12	2046	-			515			Lumenal (Potential).		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.1544A>T	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.939533	0.92526	.	.	ENSG00000140943	ENST00000343411	T	0.26660	1.72	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.62234	-0.6897	10	0.87932	D	0	-24.2135	15.2385	0.73450	0.0:0.0:0.0:1.0	.	515	Q14703	MBTP1_HUMAN	I	515	ENSP00000344223:N515I	ENSP00000344223:N515I	N	-	2	0	MBTPS1	82665752	1.000000	0.71417	0.767000	0.31495	0.993000	0.82548	7.955000	0.87856	2.005000	0.58758	0.528000	0.53228	AAT		0.478	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		16	27	0	0	0	0	16	27				
JPH3	57338	broad.mit.edu	37	16	87678544	87678544	+	Missense_Mutation	SNP	C	C	T	rs377378251		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:87678544C>T	ENST00000284262.2	+	2	1305	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	355					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CATCCCCCTGCGGGCCAGCAA	0.652																																						uc002fkd.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1063-1065)CGG>TGG		junctophilin 3		C	TRP/ARG	0,4396		0,0,2198	33.0	40.0	38.0		1063	3.5	1.0	16		38	1,8599	1.2+/-3.3	0,1,4299	no	missense	JPH3	NM_020655.2	101	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	355/749	87678544	1,12995	2198	4300	6498	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678544C>T	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1063C>T	16.37:g.87678544C>T	ENSP00000284262:p.Arg355Trp					JPH3_uc010vou.1_RNA	p.R355W	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1317	+			355			Cytoplasmic (Potential).		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.1063C>T	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446780	0.63178	0.0	1.16E-4	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.53423	0.62	4.56	3.53	0.40419	.	0.107203	0.64402	D	0.000019	T	0.68284	0.2984	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73588	-0.3935	10	0.87932	D	0	.	11.605	0.51026	0.2862:0.7138:0.0:0.0	.	355	Q8WXH2	JPH3_HUMAN	W	218;355	ENSP00000284262:R355W	ENSP00000284262:R355W	R	+	1	2	JPH3	86236045	0.998000	0.40836	0.963000	0.40424	0.992000	0.81027	0.561000	0.23515	2.098000	0.63641	0.561000	0.74099	CGG		0.652	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			10	24	0	0	0	0	10	24				
ZC3H18	124245	broad.mit.edu	37	16	88664701	88664701	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:88664701C>T	ENST00000301011.5	+	4	1004	c.804C>T	c.(802-804)ctC>ctT	p.L268L	ZC3H18_ENST00000452588.2_Silent_p.L292L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	268	Pro-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCCGCCTCTCGGACCTCACC	0.537																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2		NA																	0				skin(1)	1						c.(802-804)CTC>CTT		zinc finger CCCH-type containing 18							75.0	77.0	76.0					16																	88664701		2198	4300	6498	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88664701C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.804C>T	16.37:g.88664701C>T						ZC3H18_uc010voy.1_Silent_p.L151L|ZC3H18_uc010voz.1_Silent_p.L292L	p.L268L	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	4	1004	+			268			Pro-rich.		Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.804C>T	CCDS10967.1																																																																																				0.537	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		6	62	0	0	0	0	6	62				
RPA1	6117	broad.mit.edu	37	17	1783840	1783840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:1783840G>A	ENST00000254719.5	+	12	1206	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	366					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TTTACAGGCTGATAAATTTGA	0.428								Nucleotide excision repair (NER)																														uc002fto.2		NA																	0					0						c.(1096-1098)GAT>AAT	NER	replication protein A1							82.0	81.0	82.0					17																	1783840		2203	4300	6503	SO:0001583	missense	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1783840G>A	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1096G>A	17.37:g.1783840G>A	ENSP00000254719:p.Asp366Asn						p.D366N	NM_002945	NP_002936	P27694	RFA1_HUMAN			12	1211	+			366					A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.1096G>A	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494218	0.85069	.	.	ENSG00000132383	ENST00000254719	T	0.18016	2.24	5.83	5.83	0.93111	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.099938	0.64402	D	0.000001	T	0.14570	0.0352	N	0.22421	0.69	0.58432	D	0.999999	B	0.25169	0.119	B	0.25405	0.06	T	0.12344	-1.0551	10	0.18276	T	0.48	-24.5673	20.1133	0.97917	0.0:0.0:1.0:0.0	.	366	P27694	RFA1_HUMAN	N	366	ENSP00000254719:D366N	ENSP00000254719:D366N	D	+	1	0	RPA1	1730590	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.476000	0.97823	2.762000	0.94881	0.591000	0.81541	GAT		0.428	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		16	33	0	0	0	0	16	33				
NEURL4	84461	broad.mit.edu	37	17	7230539	7230539	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7230539C>T	ENST00000399464.2	-	3	753	c.738G>A	c.(736-738)gtG>gtA	p.V246V	NEURL4_ENST00000315614.7_Silent_p.V246V|NEURL4_ENST00000570460.1_Intron	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	246						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGCTGGGGACACCATGAAGG	0.627																																						uc002gga.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(736-738)GTG>GTA		neuralized homolog 4 isoform 1							34.0	39.0	38.0					17																	7230539		1981	4148	6129	SO:0001819	synonymous_variant	84461						protein binding	g.chr17:7230539C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.738G>A	17.37:g.7230539C>T						NEURL4_uc002ggb.1_Silent_p.V246V|NEURL4_uc002ggc.1_5'Flank	p.V246V	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			3	745	-			246					Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.738G>A	CCDS42251.1																																																																																				0.627	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		8	16	0	0	0	0	8	16				
POLR2A	5430	broad.mit.edu	37	17	7399540	7399540	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7399540G>C	ENST00000322644.6	+	3	637	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	POLR2A_ENST00000572844.1_Missense_Mutation_p.E80Q	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	80					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAACATGACAGAGTGTCCTGG	0.537																																						uc002ghf.3		NA																	0				pancreas(1)	1						c.(238-240)GAG>CAG		DNA-directed RNA polymerase II A							123.0	115.0	118.0					17																	7399540		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7399540G>C			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.238G>C	17.37:g.7399540G>C	ENSP00000314949:p.Glu80Gln					POLR2A_uc002ghe.2_Missense_Mutation_p.E80Q	p.E80Q	NM_000937	NP_000928	P24928	RPB1_HUMAN			3	472	+		Prostate(122;0.173)	80					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.238G>C	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110954	0.77210	.	.	ENSG00000181222	ENST00000322644	T	0.24723	1.84	5.57	5.57	0.84162	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	M	0.64170	1.965	0.58432	D	0.999999	P;P	0.42871	0.792;0.46	B;B	0.43194	0.411;0.278	T	0.16012	-1.0417	10	0.72032	D	0.01	.	18.3126	0.90206	0.0:0.0:1.0:0.0	.	80;80	P24928;Q6NX41	RPB1_HUMAN;.	Q	80	ENSP00000314949:E80Q	ENSP00000314949:E80Q	E	+	1	0	SLC35G6	7340264	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.172000	0.77604	2.625000	0.88918	0.467000	0.42956	GAG		0.537	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		6	48	0	0	0	0	6	48				
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7578413C>A	ENST00000269305.4	-	5	706	c.517G>T	c.(517-519)Gtg>Ttg	p.V173L	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000420246.2_Missense_Mutation_p.V173L	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)	CAGCGCCTCACAACCTCCGTC	0.662		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		159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	p.V173L(54)|p.V173M(40)|p.V173A(8)|p.V173V(8)|p.0?(7)|p.V173G(6)|p.V173fs*1(4)|p.V80L(2)|p.V173fs*59(2)|p.V41L(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.V80M(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.V41M(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(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	CM070299	TP53	M		c.(517-519)GTG>TTG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							51.0	51.0	51.0					17																	7578413		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.chr17:7578413C>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.517G>T	17.37:g.7578413C>A	ENSP00000269305:p.Val173Leu	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.V173L|TP53_uc002gih.2_Missense_Mutation_p.V173L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V41L|TP53_uc010cng.1_Missense_Mutation_p.V41L|TP53_uc002gii.1_Missense_Mutation_p.V41L|TP53_uc010cnh.1_Missense_Mutation_p.V173L|TP53_uc010cni.1_Missense_Mutation_p.V173L|TP53_uc002gij.2_Missense_Mutation_p.V173L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V80L|TP53_uc002gio.2_Missense_Mutation_p.V41L|TP53_uc010vug.1_Missense_Mutation_p.V134L	p.V173L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	711	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (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.517G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743630	0.89663	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	5.59	5.59	0.84812	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	0.99866	0.9937	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.987;0.996;1.0;0.979;0.989;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.922;0.957;0.999;0.916;0.953;0.998	D	0.96814	0.9599	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173L;ENSP00000352610:V173L;ENSP00000269305:V173L;ENSP00000398846:V173L;ENSP00000391127:V173L;ENSP00000391478:V173L;ENSP00000425104:V41L;ENSP00000423862:V80L	ENSP00000269305:V173L	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	22	1	0	9.65e-13	1.66e-12	31	22				
DNAH2	146754	broad.mit.edu	37	17	7637808	7637808	+	Missense_Mutation	SNP	C	C	T	rs184551710		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7637808C>T	ENST00000572933.1	+	7	2220	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	DNAH2_ENST00000082259.3_Missense_Mutation_p.R254W|DNAH2_ENST00000570791.1_Missense_Mutation_p.R254W|DNAH2_ENST00000389173.2_Missense_Mutation_p.R254W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	254	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCACTGGACCCGGCAGATAAA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		20511	0.001		0.0	False		,,,				2504	0.0					uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(760-762)CGG>TGG		dynein heavy chain domain 3							62.0	61.0	61.0					17																	7637808		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7637808C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.760C>T	17.37:g.7637808C>T	ENSP00000458355:p.Arg254Trp					DNAH2_uc002git.2_Missense_Mutation_p.R254W|DNAH2_uc010vuk.1_Missense_Mutation_p.R254W	p.R254W	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			6	774	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	254			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.760C>T	CCDS32551.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.6	4.014617	0.75161	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.57273	0.41;0.41	5.63	4.66	0.58398	Dynein heavy chain, domain-1 (1);	2.168170	0.01957	N	0.043027	T	0.80803	0.4693	M	0.87900	2.915	0.42300	D	0.992174	D;D	0.89917	1.0;1.0	D;D	0.91635	0.977;0.999	T	0.60352	-0.7280	10	0.87932	D	0	.	15.0755	0.72074	0.1427:0.8573:0.0:0.0	.	254;254	Q9P225;Q9P225-3	DYH2_HUMAN;.	W	254	ENSP00000373825:R254W;ENSP00000082259:R254W	ENSP00000082259:R254W	R	+	1	2	DNAH2	7578533	0.966000	0.33281	1.000000	0.80357	0.996000	0.88848	2.156000	0.42310	1.369000	0.46134	0.455000	0.32223	CGG		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		9	38	0	0	0	0	9	38				
KDM6B	23135	broad.mit.edu	37	17	7752018	7752018	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7752018C>G	ENST00000448097.2	+	11	2743	c.2412C>G	c.(2410-2412)ctC>ctG	p.L804L	KDM6B_ENST00000254846.5_Silent_p.L804L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	804	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.L804L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCAGCCTGCTCAAATCCTTGG	0.642																																						uc002giw.1		NA																	1	Substitution - coding silent(1)		cervix(1)	central_nervous_system(1)|pancreas(1)	2						c.(2410-2412)CTC>CTG		lysine (K)-specific demethylase 6B							33.0	36.0	35.0					17																	7752018		2201	4299	6500	SO:0001819	synonymous_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752018C>G	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2412C>G	17.37:g.7752018C>G						KDM6B_uc002gix.2_Silent_p.L106L	p.L804L	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			11	2788	+			804			Pro-rich.		C9IZ40|Q96G33	Silent	SNP	ENST00000448097.2	37	c.2412C>G																																																																																					0.642	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		6	52	0	0	0	0	6	52				
CHD3	1107	broad.mit.edu	37	17	7794330	7794330	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7794330G>A	ENST00000330494.7	+	4	607	c.457G>A	c.(457-459)Gag>Aag	p.E153K	CHD3_ENST00000380358.4_Missense_Mutation_p.E212K|CHD3_ENST00000358181.4_Missense_Mutation_p.E153K	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	153					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGTGTTCTCTGAGGAGGATTA	0.512																																						uc002gje.2		NA																	0				breast(1)	1						c.(457-459)GAG>AAG		chromodomain helicase DNA binding protein 3							166.0	142.0	150.0					17																	7794330		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7794330G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.457G>A	17.37:g.7794330G>A	ENSP00000332628:p.Glu153Lys					CHD3_uc002gjd.2_Missense_Mutation_p.E212K|CHD3_uc002gjf.2_Missense_Mutation_p.E153K|CHD3_uc002gjg.1_5'UTR	p.E153K	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			4	607	+		Prostate(122;0.202)	153					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.457G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404391	0.83230	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.91686	-2.89;-2.81;-2.83	4.54	4.54	0.55810	CHD, N-terminal (1);	0.000000	0.46758	D	0.000270	D	0.93812	0.8021	M	0.72894	2.215	0.80722	D	1	P;P;P	0.50819	0.827;0.856;0.939	B;P;P	0.51453	0.442;0.578;0.67	D	0.94713	0.7894	10	0.72032	D	0.01	-27.566	17.4864	0.87689	0.0:0.0:1.0:0.0	.	153;153;212	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	K	212;153;153	ENSP00000369716:E212K;ENSP00000350907:E153K;ENSP00000332628:E153K	ENSP00000332628:E153K	E	+	1	0	CHD3	7735055	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.118000	0.71583	2.349000	0.79799	0.557000	0.71058	GAG		0.512	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		28	70	0	0	0	0	28	70				
MYH8	4626	broad.mit.edu	37	17	10309390	10309390	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:10309390C>G	ENST00000403437.2	-	21	2494	c.2400G>C	c.(2398-2400)atG>atC	p.M800I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	800	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTCTACCCTCATTAGGAATC	0.373									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(2398-2400)ATG>ATC		myosin, heavy chain 8, skeletal muscle,							162.0	158.0	159.0					17																	10309390		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10309390C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2400G>C	17.37:g.10309390C>G	ENSP00000384330:p.Met800Ile					uc002gml.1_Intron	p.M800I	NM_002472	NP_002463	P13535	MYH8_HUMAN			21	2495	-			800			IQ.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2400G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475448	0.43942	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.93247	-3.19	5.22	5.22	0.72569	.	0.000000	0.50627	U	0.000110	D	0.92394	0.7586	M	0.62088	1.915	0.43263	D	0.995205	B	0.02656	0.0	B	0.04013	0.001	D	0.88873	0.3334	10	0.54805	T	0.06	.	18.9728	0.92722	0.0:1.0:0.0:0.0	.	800	P13535	MYH8_HUMAN	I	800	ENSP00000384330:M800I	ENSP00000252173:M800I	M	-	3	0	MYH8	10250115	0.990000	0.36364	1.000000	0.80357	0.999000	0.98932	1.443000	0.35057	2.732000	0.93576	0.650000	0.86243	ATG		0.373	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		8	66	0	0	0	0	8	66				
DNAH9	1770	broad.mit.edu	37	17	11607549	11607549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:11607549G>A	ENST00000262442.4	+	25	5249	c.5181G>A	c.(5179-5181)tgG>tgA	p.W1727*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.W1727*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1727	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATCTGGTGGACAACAGAAG	0.507																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(5179-5181)TGG>TGA		dynein, axonemal, heavy chain 9 isoform 2							118.0	116.0	117.0					17																	11607549		2203	4300	6503	SO:0001587	stop_gained	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11607549G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5181G>A	17.37:g.11607549G>A	ENSP00000262442:p.Trp1727*					DNAH9_uc010coo.2_Nonsense_Mutation_p.W1021*	p.W1727*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	25	5249	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1727			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	c.5181G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	47	13.413938	0.99740	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	.	.	.	X	1727;1727;309	.	ENSP00000262442:W1727X	W	+	3	0	DNAH9	11548274	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.388000	0.97237	2.813000	0.96785	0.655000	0.94253	TGG		0.507	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	112	0	0	0	0	5	112				
PRPSAP2	5636	broad.mit.edu	37	17	18775924	18775924	+	Silent	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:18775924G>T	ENST00000268835.2	+	5	484	c.201G>T	c.(199-201)gtG>gtT	p.V67V	PRPSAP2_ENST00000542013.1_Silent_p.V67V|PRPSAP2_ENST00000419071.2_Intron|PRPSAP2_ENST00000536323.1_5'UTR	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	67					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						AAGAGTCTGTGAGGGGAAAAG	0.348																																						uc002gup.1		NA																	0				skin(1)	1						c.(199-201)GTG>GTT		phosphoribosyl pyrophosphate							203.0	210.0	208.0					17																	18775924		2203	4300	6503	SO:0001819	synonymous_variant	5636				nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:18775924G>T	AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.201G>T	17.37:g.18775924G>T						PRPSAP2_uc002guo.1_5'UTR|PRPSAP2_uc010vyi.1_Intron|PRPSAP2_uc010vyj.1_5'UTR|PRPSAP2_uc010vyk.1_Silent_p.V55V	p.V67V	NM_002767	NP_002758	O60256	KPRB_HUMAN			5	412	+			67					B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Silent	SNP	ENST00000268835.2	37	c.201G>T	CCDS11200.1																																																																																				0.348	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767		41	168	1	0	1.57e-19	2.72e-19	41	168				
KIAA0100	9703	broad.mit.edu	37	17	26965108	26965108	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:26965108C>G	ENST00000528896.2	-	14	1591	c.1517G>C	c.(1516-1518)aGc>aCc	p.S506T	KIAA0100_ENST00000389003.3_Missense_Mutation_p.S363T|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S363T	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	506						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTGGTTATAGCTACCCTAGAG	0.498																																						uc002hbu.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(1516-1518)AGC>ACC		hypothetical protein LOC9703 precursor							52.0	55.0	54.0					17																	26965108		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26965108C>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1517G>C	17.37:g.26965108C>G	ENSP00000436773:p.Ser506Thr						p.S506T	NM_014680	NP_055495	Q14667	K0100_HUMAN			14	1616	-	Lung NSC(42;0.00431)		506					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.1517G>C	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484298	0.84854	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.28255	1.68;1.62	5.95	5.95	0.96441	FMP27, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	L	0.32530	0.975	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.35674	-0.9779	10	0.54805	T	0.06	-0.0938	20.3789	0.98926	0.0:1.0:0.0:0.0	.	506	Q14667	K0100_HUMAN	T	506;506;506;363	ENSP00000436773:S506T;ENSP00000446443:S363T	ENSP00000005905:S506T	S	-	2	0	KIAA0100	23989235	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.863000	0.75489	2.826000	0.97356	0.563000	0.77884	AGC		0.498	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		12	54	0	0	0	0	12	54				
KRT27	342574	broad.mit.edu	37	17	38938473	38938473	+	Silent	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:38938473G>C	ENST00000301656.3	-	1	313	c.273C>G	c.(271-273)ctC>ctG	p.L91L		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGCGGTCGTTGAGGTTCTGCA	0.572																																						uc002hvg.2		NA																	0					0						c.(271-273)CTC>CTG		keratin 27							164.0	145.0	151.0					17																	38938473		2203	4300	6503	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38938473G>C	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.273C>G	17.37:g.38938473G>C							p.L91L	NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN			1	314	-		Breast(137;0.000812)	91			Rod.|Coil 1A.			Silent	SNP	ENST00000301656.3	37	c.273C>G	CCDS11375.1																																																																																				0.572	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		33	63	0	0	0	0	33	63				
DHX8	1659	broad.mit.edu	37	17	41585799	41585799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:41585799C>T	ENST00000262415.3	+	16	2485	c.2413C>T	c.(2413-2415)Cca>Tca	p.P805S	DHX8_ENST00000540306.1_Missense_Mutation_p.P805S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	805	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACCTGATGTTCCAGAGTTAAT	0.488																																					NSCLC(56;1548 1661 49258 49987)	uc002idu.1		NA																	0				ovary(2)|kidney(1)|pancreas(1)	4						c.(2413-2415)CCA>TCA		DEAH (Asp-Glu-Ala-His) box polypeptide 8							154.0	147.0	149.0					17																	41585799		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41585799C>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2413C>T	17.37:g.41585799C>T	ENSP00000262415:p.Pro805Ser					DHX8_uc010wif.1_Missense_Mutation_p.P714S|DHX8_uc010wig.1_Missense_Mutation_p.P805S	p.P805S	NM_004941	NP_004932	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	16	2486	+		Breast(137;0.00908)	805			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000262415.3	37	c.2413C>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990825	0.74703	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.02446	4.29;4.29	5.68	5.68	0.88126	Helicase, C-terminal (2);	0.107337	0.64402	D	0.000004	T	0.18045	0.0433	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.989	D;D	0.97110	1.0;0.967	T	0.00043	-1.2223	10	0.87932	D	0	.	18.7662	0.91874	0.0:1.0:0.0:0.0	.	805;805	F5H658;Q14562	.;DHX8_HUMAN	S	805	ENSP00000437886:P805S;ENSP00000262415:P805S	ENSP00000262415:P805S	P	+	1	0	DHX8	38941325	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.961000	0.70356	2.677000	0.91161	0.561000	0.74099	CCA		0.488	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			13	61	0	0	0	0	13	61				
ARHGAP27	201176	broad.mit.edu	37	17	43480174	43480174	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:43480174G>A	ENST00000428638.1	-	9	1648	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	ARHGAP27_ENST00000376922.2_Missense_Mutation_p.S209F|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.S209F|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.S182F|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.S528F|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.S523F|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.S328F			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	550	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GGAAAACTTGGAAGGCTGCCT	0.572																																						uc002iix.2		NA																	0					0						c.(625-627)TCC>TTC		Rho GTPase activating protein 27 isoform a							59.0	59.0	59.0					17																	43480174		2203	4300	6503	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43480174G>A	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1649C>T	17.37:g.43480174G>A	ENSP00000403323:p.Ser550Phe					ARHGAP27_uc010dak.2_Missense_Mutation_p.S182F|ARHGAP27_uc010wjl.1_Missense_Mutation_p.S328F	p.S209F	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN			9	1075	-	Renal(3;0.0405)		550			PH.		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.626C>T		.	.	.	.	.	.	.	.	.	.	G	13.30	2.195420	0.38806	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	5.16	0.661	0.17874	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	1.051470	0.07362	N	0.884239	T	0.68439	0.3001	L	0.52573	1.65	0.80722	D	1	P;P;B	0.39424	0.673;0.607;0.418	B;B;B	0.39217	0.294;0.135;0.194	T	0.57636	-0.7777	10	0.38643	T	0.18	.	8.8968	0.35470	0.0:0.2675:0.4565:0.276	.	328;523;550	B7Z6T0;F8WBX1;Q6ZUM4	.;.;RHG27_HUMAN	F	328;209;182;528;550;523;209	ENSP00000432762:S328F;ENSP00000366121:S209F;ENSP00000431591:S182F;ENSP00000433942:S528F;ENSP00000403323:S550F;ENSP00000409330:S523F;ENSP00000408235:S209F	ENSP00000366121:S209F	S	-	2	0	ARHGAP27	40835957	0.613000	0.27009	0.961000	0.40146	0.667000	0.39255	0.847000	0.27696	0.028000	0.15324	0.555000	0.69702	TCC		0.572	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		19	38	0	0	0	0	19	38				
ABCA8	10351	broad.mit.edu	37	17	66890418	66890418	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:66890418T>C	ENST00000269080.2	-	21	2949	c.2812A>G	c.(2812-2814)Aga>Gga	p.R938G	ABCA8_ENST00000586539.1_Missense_Mutation_p.R978G|ABCA8_ENST00000430352.2_Missense_Mutation_p.R978G	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	938					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CAATTCAATCTTTTGGCATTG	0.313																																						uc002jhp.2		NA																	0				ovary(2)|skin(1)	3						c.(2812-2814)AGA>GGA		ATP-binding cassette, sub-family A member 8							68.0	62.0	64.0					17																	66890418		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66890418T>C	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2812A>G	17.37:g.66890418T>C	ENSP00000269080:p.Arg938Gly					ABCA8_uc002jhq.2_Missense_Mutation_p.R978G|ABCA8_uc010wqq.1_Missense_Mutation_p.R978G|ABCA8_uc010wqr.1_Missense_Mutation_p.R917G|ABCA8_uc002jhr.2_Missense_Mutation_p.R978G	p.R938G	NM_007168	NP_009099	O94911	ABCA8_HUMAN			21	2991	-	Breast(10;4.56e-13)		938					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2812A>G	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812218	0.50527	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.85702	-2.02;-2.02	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000013	D	0.86994	0.6067	M	0.83384	2.64	0.35528	D	0.802039	B;B;B;B;B	0.30664	0.154;0.289;0.021;0.039;0.097	B;B;B;B;B	0.40477	0.132;0.33;0.029;0.099;0.16	D	0.86141	0.1581	10	0.17832	T	0.49	.	11.4185	0.49967	0.0:0.0:0.0:1.0	.	917;978;978;978;938	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	G	938;978;917	ENSP00000269080:R938G;ENSP00000402814:R978G	ENSP00000269080:R938G	R	-	1	2	ABCA8	64402013	0.006000	0.16342	1.000000	0.80357	0.962000	0.63368	1.194000	0.32174	2.260000	0.74910	0.533000	0.62120	AGA		0.313	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		7	14	0	0	0	0	7	14				
NOL4	8715	broad.mit.edu	37	18	31523045	31523045	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr18:31523045C>T	ENST00000261592.5	-	9	1823	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	NOL4_ENST00000535475.1_Missense_Mutation_p.R290H|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.R224H|NOL4_ENST00000538587.1_Missense_Mutation_p.R435H	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	509						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.R509L(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTCTCCAGACGCATCCTCTT	0.443																																						uc010dmi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1525-1527)CGT>CAT		nucleolar protein 4							106.0	94.0	98.0					18																	31523045		2203	4299	6502	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31523045C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1526G>A	18.37:g.31523045C>T	ENSP00000261592:p.Arg509His					NOL4_uc010xbs.1_Missense_Mutation_p.R224H|NOL4_uc002kxr.3_Missense_Mutation_p.R281H|NOL4_uc010xbt.1_Missense_Mutation_p.R435H|NOL4_uc010dmh.2_Missense_Mutation_p.R371H|NOL4_uc010xbu.1_Missense_Mutation_p.R445H|NOL4_uc002kxt.3_Intron|NOL4_uc010xbv.1_Missense_Mutation_p.R194H	p.R509H	NM_003787	NP_003778	O94818	NOL4_HUMAN			9	1755	-			509					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1526G>A	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539295	0.85917	.	.	ENSG00000101746	ENST00000261592;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.77638	0.4160	L	0.55481	1.735	0.53005	D	0.99996	D;D;D;D;D;P	0.89917	0.999;1.0;1.0;1.0;1.0;0.938	D;D;D;D;D;P	0.91635	0.994;0.999;0.999;0.996;0.999;0.553	T	0.77640	-0.2512	9	0.72032	D	0.01	-8.6841	20.2049	0.98273	0.0:1.0:0.0:0.0	.	194;224;435;509;224;290	F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;B3KRF4	.;.;.;NOL4_HUMAN;.;.	H	509;194;224;290;435	.	ENSP00000261592:R509H	R	-	2	0	NOL4	29777043	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	6.830000	0.75319	2.772000	0.95346	0.650000	0.86243	CGT		0.443	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		10	56	0	0	0	0	10	56				
DTNA	1837	broad.mit.edu	37	18	32428280	32428280	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr18:32428280G>A	ENST00000399113.3	+	13	1286	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	DTNA_ENST00000591182.1_Missense_Mutation_p.R77Q|DTNA_ENST00000269191.6_Missense_Mutation_p.R429Q|DTNA_ENST00000444659.1_Missense_Mutation_p.R429Q|DTNA_ENST00000599844.1_Missense_Mutation_p.R51Q|DTNA_ENST00000269192.7_Missense_Mutation_p.R138Q|DTNA_ENST00000556414.3_Missense_Mutation_p.R81Q|DTNA_ENST00000399121.5_Missense_Mutation_p.R369Q|DTNA_ENST00000348997.5_Missense_Mutation_p.R426Q|DTNA_ENST00000598142.1_Missense_Mutation_p.R372Q|DTNA_ENST00000399097.3_Missense_Mutation_p.R77Q|DTNA_ENST00000269190.7_Missense_Mutation_p.R430Q|DTNA_ENST00000598334.1_Missense_Mutation_p.R369Q|DTNA_ENST00000598774.1_Missense_Mutation_p.R372Q|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000597599.1_Missense_Mutation_p.R369Q|DTNA_ENST00000597674.1_Missense_Mutation_p.R51Q|DTNA_ENST00000601125.1_Missense_Mutation_p.R51Q|DTNA_ENST00000595022.1_Missense_Mutation_p.R369Q|DTNA_ENST00000283365.9_Missense_Mutation_p.R372Q			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	429	Syntrophin-binding region.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGTTCAAACCGGCTTGATGAA	0.448																																						uc010dmn.1		NA																	0					0						c.(1285-1287)CGG>CAG		dystrobrevin alpha isoform 1							103.0	96.0	98.0					18																	32428280		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32428280G>A	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1286G>A	18.37:g.32428280G>A	ENSP00000382064:p.Arg429Gln					DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.R372Q|DTNA_uc002kxw.2_Missense_Mutation_p.R372Q|DTNA_uc010dmj.2_Missense_Mutation_p.R369Q|DTNA_uc002kxz.2_Missense_Mutation_p.R369Q|DTNA_uc002kxy.2_Missense_Mutation_p.R369Q|DTNA_uc010dml.2_Missense_Mutation_p.R369Q|DTNA_uc002kyb.3_Missense_Mutation_p.R426Q|DTNA_uc010dmm.2_Missense_Mutation_p.R429Q|DTNA_uc010xby.1_Missense_Mutation_p.R119Q|DTNA_uc010dmo.2_Missense_Mutation_p.R51Q|DTNA_uc002kyd.3_Missense_Mutation_p.R51Q|DTNA_uc010xbz.1_Missense_Mutation_p.R138Q|DTNA_uc010xca.1_Missense_Mutation_p.R81Q|DTNA_uc002kye.2_Missense_Mutation_p.R77Q	p.R429Q	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			13	1287	+			429			Syntrophin-binding region.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1286G>A	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144149	0.94603	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.4	5.4	0.78164	.	0.164457	0.56097	D	0.000040	D	0.90421	0.7001	M	0.69358	2.11	0.45046	D	0.998069	D;D;D;D;P;P;D;D;D;P;D;D;D;P	0.89917	1.0;0.998;0.998;0.984;0.8;0.873;0.966;0.99;0.978;0.873;0.966;0.992;0.99;0.876	D;D;D;P;B;B;P;P;P;B;P;P;P;B	0.91635	0.999;0.929;0.96;0.651;0.155;0.295;0.552;0.812;0.713;0.295;0.552;0.722;0.739;0.228	D	0.89628	0.3853	10	0.44086	T	0.13	-10.7005	19.1815	0.93625	0.0:0.0:1.0:0.0	.	81;138;119;51;429;429;369;372;77;426;369;380;372;372	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	Q	372;372;369;430;77;426;429;429;429;429;138;77;81	ENSP00000283365:R372Q;ENSP00000269190:R430Q;ENSP00000382048:R77Q;ENSP00000336682:R426Q;ENSP00000405819:R429Q;ENSP00000269191:R429Q;ENSP00000382064:R429Q;ENSP00000269192:R138Q;ENSP00000452255:R81Q	ENSP00000269190:R430Q	R	+	2	0	DTNA	30682278	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.117000	0.77129	2.536000	0.85505	0.655000	0.94253	CGG		0.448	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		20	24	0	0	0	0	20	24				
CDH19	28513	broad.mit.edu	37	18	64178908	64178908	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr18:64178908G>A	ENST00000262150.2	-	10	1765	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	600	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CCACTGCACTGATAGTCTGAA	0.318																																						uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(1471-1473)ATC>ATT		cadherin 19, type 2 preproprotein							80.0	80.0	80.0					18																	64178908		2203	4298	6501	SO:0001819	synonymous_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64178908G>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1473C>T	18.37:g.64178908G>A						CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron	p.I491I	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			10	1611	-		Esophageal squamous(42;0.0132)	491			Cadherin 5.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000262150.2	37	c.1473C>T	CCDS11994.1																																																																																				0.318	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		20	32	0	0	0	0	20	32				
SHD	56961	broad.mit.edu	37	19	4282869	4282869	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:4282869G>A	ENST00000543264.2	+	2	1763	c.300G>A	c.(298-300)ctG>ctA	p.L100L	SHD_ENST00000599689.1_Silent_p.L100L	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	100										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGCAGCTGGAAGCCGACA	0.572																																						uc002lzw.2		NA																	0					0						c.(298-300)CTG>CTA		Src homology 2 domain containing transforming							79.0	74.0	76.0					19																	4282869		2203	4300	6503	SO:0001819	synonymous_variant	56961							g.chr19:4282869G>A	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.300G>A	19.37:g.4282869G>A						SHD_uc010dtu.2_Silent_p.L100L	p.L100L	NM_020209	NP_064594	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1763	+			100					Q96NC2	Silent	SNP	ENST00000543264.2	37	c.300G>A	CCDS12125.1																																																																																				0.572	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		32	54	0	0	0	0	32	54				
CD320	51293	broad.mit.edu	37	19	8367860	8367860	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:8367860G>A	ENST00000301458.5	-	4	571	c.507C>T	c.(505-507)acC>acT	p.T169T	CD320_ENST00000596246.1_5'Flank|CD320_ENST00000537716.2_Silent_p.T127T	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	169					cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						GGATCTCATTGGTTCCTGCAA	0.607																																						uc002mjj.1		NA																	0					0						c.(505-507)ACC>ACT		8D6 antigen isoform 1 precursor							25.0	25.0	25.0					19																	8367860		2203	4300	6503	SO:0001819	synonymous_variant	51293				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity	g.chr19:8367860G>A	AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"""CD molecules"""	16692	protein-coding gene	gene with protein product	"""8D6 antigen"""	606475	"""CD320 antigen"""			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.507C>T	19.37:g.8367860G>A						CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Silent_p.T127T	p.T169T	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN			4	572	-			169			Extracellular (Potential).		B2RDS5|D6W668|F5H6D3|Q53HF7	Silent	SNP	ENST00000301458.5	37	c.507C>T	CCDS12198.1																																																																																				0.607	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579		4	15	0	0	0	0	4	15				
ZNF266	10781	broad.mit.edu	37	19	9524534	9524534	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:9524534T>G	ENST00000592904.1	-	5	3143	c.1067A>C	c.(1066-1068)gAt>gCt	p.D356A	ZNF266_ENST00000590306.1_Missense_Mutation_p.D356A|ZNF266_ENST00000592292.1_Missense_Mutation_p.D356A|ZNF266_ENST00000361451.2_Missense_Mutation_p.D356A|ZNF266_ENST00000361151.1_Missense_Mutation_p.D356A|ZNF266_ENST00000588221.1_Missense_Mutation_p.D356A|ZNF266_ENST00000588933.1_Missense_Mutation_p.D356A			Q14584	ZN266_HUMAN	zinc finger protein 266	356					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(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTTCCCACAATCCTTACATTT	0.413																																						uc002mll.2		NA																	0				ovary(1)	1						c.(1066-1068)GAT>GCT		zinc finger protein 266							81.0	83.0	82.0					19																	9524534		2203	4299	6502	SO:0001583	missense	10781				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9524534T>G	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1067A>C	19.37:g.9524534T>G	ENSP00000466714:p.Asp356Ala					ZNF266_uc002mlm.2_Missense_Mutation_p.D356A|ZNF266_uc002mln.2_Missense_Mutation_p.D356A|ZNF266_uc002mlo.2_Missense_Mutation_p.D356A|ZNF266_uc010dwp.2_Missense_Mutation_p.D356A|ZNF266_uc010dwq.2_Missense_Mutation_p.D356A	p.D356A	NM_198058	NP_932175	Q14584	ZN266_HUMAN			4	1333	-			356			C2H2-type 8.		A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.1067A>C	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.341048	0.24339	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.06849	3.25;3.25	2.53	1.48	0.22813	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04543	0.0124	N	0.13198	0.31	0.09310	N	1	B	0.19445	0.036	B	0.17433	0.018	T	0.40553	-0.9557	9	0.87932	D	0	.	2.1313	0.03751	0.2562:0.1469:0.0:0.5969	.	356	Q14584	ZN266_HUMAN	A	356	ENSP00000354680:D356A;ENSP00000355047:D356A	ENSP00000355047:D356A	D	-	2	0	ZNF266	9385534	0.000000	0.05858	0.001000	0.08648	0.958000	0.62258	0.548000	0.23314	0.373000	0.24621	-0.531000	0.04308	GAT		0.413	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			18	46	0	0	0	0	18	46				
ZNF442	79973	broad.mit.edu	37	19	12461237	12461237	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:12461237G>C	ENST00000242804.4	-	6	1744	c.1162C>G	c.(1162-1164)Cat>Gat	p.H388D	ZNF442_ENST00000438182.1_Missense_Mutation_p.H319D|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	388					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(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CTTGAGTGATGAGATAACGCT	0.428																																						uc002mtr.1		NA																	0				large_intestine(2)|breast(1)|kidney(1)	4						c.(1162-1164)CAT>GAT		zinc finger protein 442							228.0	212.0	217.0					19																	12461237		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461237G>C	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1162C>G	19.37:g.12461237G>C	ENSP00000242804:p.His388Asp					ZNF442_uc010xmk.1_Missense_Mutation_p.H319D	p.H388D	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN			6	1773	-			388			C2H2-type 8.		B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.1162C>G	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	G	7.606	0.673777	0.14841	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.09817	2.94;2.94	0.832	-1.66	0.08265	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04318	0.0119	N	0.05351	-0.065	0.09310	N	1	B	0.14805	0.011	B	0.18561	0.022	T	0.40021	-0.9585	9	0.34782	T	0.22	.	2.1313	0.03751	0.2784:0.0:0.2345:0.4871	.	388	Q9H7R0	ZN442_HUMAN	D	388;319	ENSP00000242804:H388D;ENSP00000388634:H319D	ENSP00000242804:H388D	H	-	1	0	ZNF442	12322237	0.000000	0.05858	0.000000	0.03702	0.262000	0.26303	-8.075000	0.00025	-0.975000	0.03546	0.313000	0.20887	CAT		0.428	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		9	168	0	0	0	0	9	168				
MAST1	22983	broad.mit.edu	37	19	12969220	12969220	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:12969220C>T	ENST00000251472.4	+	11	1161	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	MAST1_ENST00000591495.1_Silent_p.F370F	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGAATGACTTCGATACCATCA	0.617																																						uc002mvm.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(1120-1122)TTC>TTT		microtubule associated serine/threonine kinase							109.0	116.0	114.0					19																	12969220		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12969220C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1122C>T	19.37:g.12969220C>T						MAST1_uc002mvk.2_Silent_p.F370F	p.F374F	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			11	1250	+			374			Protein kinase.			Silent	SNP	ENST00000251472.4	37	c.1122C>T	CCDS32921.1																																																																																				0.617	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		21	131	0	0	0	0	21	131				
ZNF708	7562	broad.mit.edu	37	19	21492100	21492100	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:21492100T>A	ENST00000356929.3	-	3	371	c.174A>T	c.(172-174)caA>caT	p.Q58H		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	0			K -> T (in dbSNP:rs1781872).		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(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GCTCTTTTCCTTGCTCCAGAC	0.428																																						uc002npq.1		NA																	0				central_nervous_system(4)|skin(2)	6						c.(172-174)CAA>CAT		zinc finger protein 708							120.0	118.0	119.0					19																	21492100		2203	4300	6503	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21492100T>A	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.174A>T	19.37:g.21492100T>A	ENSP00000349401:p.Gln58His					ZNF708_uc002npr.1_Translation_Start_Site|ZNF708_uc010ecs.1_Translation_Start_Site	p.Q58H	NM_021269	NP_067092	P17019	ZN708_HUMAN			3	372	-			58			KRAB.		Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.174A>T	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	17.26	3.345580	0.61073	.	.	ENSG00000182141	ENST00000356929	T	0.00995	5.46	0.225	0.225	0.15325	Krueppel-associated box (3);	.	.	.	.	T	0.02767	0.0083	L	0.49778	1.585	0.23645	N	0.997213	D	0.71674	0.998	D	0.69824	0.966	T	0.46541	-0.9184	8	0.62326	D	0.03	.	.	.	.	.	58	P17019	ZN708_HUMAN	H	58	ENSP00000349401:Q58H	ENSP00000349401:Q58H	Q	-	3	2	ZNF708	21283940	0.899000	0.30636	0.962000	0.40283	0.963000	0.63663	1.132000	0.31418	0.257000	0.21650	0.254000	0.18369	CAA		0.428	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		24	72	0	0	0	0	24	72				
ZNF493	284443	broad.mit.edu	37	19	21606747	21606747	+	Missense_Mutation	SNP	G	G	C	rs143136118		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:21606747G>C	ENST00000355504.4	+	2	1168	c.902G>C	c.(901-903)gGa>gCa	p.G301A	ZNF493_ENST00000392288.2_Missense_Mutation_p.G429A|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	301					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATTCATACTGGAGAGAAACCC	0.338																																						uc002npx.2		NA																	0				ovary(1)	1						c.(901-903)GGA>GCA		zinc finger protein 493 isoform 1							31.0	33.0	33.0					19																	21606747		2183	4281	6464	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606747G>C	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.902G>C	19.37:g.21606747G>C	ENSP00000347691:p.Gly301Ala					ZNF493_uc002npw.2_Missense_Mutation_p.G429A|ZNF493_uc002npy.2_Missense_Mutation_p.G301A	p.G301A	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	1182	+			301					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.902G>C	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.89	1.774528	0.31411	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.26373	1.74;1.74	1.03	-0.468	0.12146	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22437	0.0541	L	0.49513	1.565	0.80722	D	1	P;P	0.47484	0.818;0.896	P;B	0.45971	0.499;0.139	T	0.11494	-1.0585	9	0.66056	D	0.02	.	2.8085	0.05434	0.1923:0.0:0.5443:0.2635	.	301;429	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	A	429;301	ENSP00000376110:G429A;ENSP00000347691:G301A	ENSP00000347691:G301A	G	+	2	0	ZNF493	21398587	1.000000	0.71417	0.121000	0.21740	0.121000	0.20230	2.990000	0.49401	-0.386000	0.07821	-0.379000	0.06801	GGA		0.338	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		3	30	0	0	0	0	3	30				
ZNF91	7644	broad.mit.edu	37	19	23542840	23542840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:23542840G>A	ENST00000300619.7	-	4	3146	c.2941C>T	c.(2941-2943)Ctt>Ttt	p.L981F	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.L949F|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	981					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTTCAGTAAGAGTTGAAGAT	0.378																																						uc002nre.2		NA																	0					0						c.(2941-2943)CTT>TTT		zinc finger protein 91							69.0	72.0	71.0					19																	23542840		2146	4277	6423	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542840G>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2941C>T	19.37:g.23542840G>A	ENSP00000300619:p.Leu981Phe					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.L949F	p.L981F	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	3054	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	981			C2H2-type 30.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2941C>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447197	0.25987	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.52057	0.68;0.68	1.52	1.52	0.23074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67021	0.2849	M	0.80982	2.52	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.963	T	0.54423	-0.8296	9	0.87932	D	0	.	9.9557	0.41666	0.0:0.0:1.0:0.0	.	949;981	Q05481-2;Q05481	.;ZNF91_HUMAN	F	981;949	ENSP00000300619:L981F;ENSP00000380272:L949F	ENSP00000300619:L981F	L	-	1	0	ZNF91	23334680	0.058000	0.20735	0.002000	0.10522	0.003000	0.03518	0.462000	0.21956	0.798000	0.33994	0.205000	0.17691	CTT		0.378	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		5	48	0	0	0	0	5	48				
KIRREL2	84063	broad.mit.edu	37	19	36355599	36355599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:36355599G>A	ENST00000360202.5	+	14	1973	c.1775G>A	c.(1774-1776)gGg>gAg	p.G592E	KIRREL2_ENST00000592409.1_Missense_Mutation_p.G557E|KIRREL2_ENST00000347900.6_Missense_Mutation_p.G542E|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G592E	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	592					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGGAGAAAGGGACTCTGGAG	0.597																																						uc002ocb.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1774-1776)GGG>GAG		kin of IRRE-like 2 isoform c							166.0	150.0	155.0					19																	36355599		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36355599G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1775G>A	19.37:g.36355599G>A	ENSP00000353331:p.Gly592Glu					KIRREL2_uc002obz.3_Missense_Mutation_p.G592E|KIRREL2_uc002oca.3_Missense_Mutation_p.G542E|KIRREL2_uc002occ.3_Missense_Mutation_p.G539E|KIRREL2_uc002ocd.3_Missense_Mutation_p.G554E	p.G592E	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		14	1987	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		592			Cytoplasmic (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.1775G>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.172937	0.00312	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658;ENST00000270294	T;T;T	0.39592	1.07;1.07;1.07	4.48	-1.9	0.07665	.	0.468198	0.16227	N	0.223777	T	0.12561	0.0305	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.09377	0.001;0.003;0.001;0.004;0.003	T	0.22941	-1.0202	10	0.02654	T	1	-3.8162	0.6834	0.00878	0.3182:0.1672:0.3446:0.17	.	592;572;592;542;592	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	E	592;542;592;572;103	ENSP00000262625:G592E;ENSP00000345067:G542E;ENSP00000353331:G592E	ENSP00000262625:G592E	G	+	2	0	KIRREL2	41047439	0.768000	0.28519	0.199000	0.23439	0.140000	0.21249	0.930000	0.28858	0.100000	0.17581	0.313000	0.20887	GGG		0.597	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		26	16	0	0	0	0	26	16				
PSG5	5673	broad.mit.edu	37	19	43688992	43688992	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:43688992G>C	ENST00000366175.3	-	2	502	c.372C>G	c.(370-372)atC>atG	p.I124M	PSG5_ENST00000407568.1_Missense_Mutation_p.I124M|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000599812.1_Missense_Mutation_p.I124M|PSG5_ENST00000407356.1_Missense_Mutation_p.I124M|PSG5_ENST00000342951.6_Missense_Mutation_p.I124M|PSG5_ENST00000404580.1_Missense_Mutation_p.I124M			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	124	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTCGCTTTATGATGTGTAAGG	0.493																																						uc002ovu.2		NA																	0				skin(3)	3						c.(370-372)ATC>ATG		pregnancy specific beta-1-glycoprotein 5							332.0	300.0	311.0					19																	43688992		2203	4295	6498	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43688992G>C		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.372C>G	19.37:g.43688992G>C	ENSP00000382334:p.Ile124Met					PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.I52M|PSG5_uc002ovx.2_Missense_Mutation_p.I124M|PSG5_uc002ovv.2_Missense_Mutation_p.I124M|PSG5_uc002ovw.2_Missense_Mutation_p.I124M	p.I124M	NM_002781	NP_002772	Q15238	PSG5_HUMAN			2	503	-		Prostate(69;0.00899)	124			Ig-like V-type.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.372C>G	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	N	7.963	0.747387	0.15710	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	1.26	-1.36	0.09085	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65450	0.2692	L	0.56340	1.77	0.09310	N	1	B;B;B;P	0.47677	0.443;0.443;0.42;0.899	P;B;B;P	0.55222	0.525;0.326;0.324;0.771	T	0.55088	-0.8195	9	0.45353	T	0.12	.	1.8239	0.03116	0.2339:0.0:0.442:0.3241	.	124;124;124;124	E7EWL9;E9PC55;Q15228;Q15238	.;.;.;PSG5_HUMAN	M	124	ENSP00000382334:I124M;ENSP00000386008:I124M;ENSP00000386053:I124M;ENSP00000344413:I124M;ENSP00000385250:I124M	ENSP00000344413:I124M	I	-	3	3	PSG5	48380832	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.381000	0.07417	-0.319000	0.08652	0.423000	0.28283	ATC		0.493	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		114	238	0	0	0	0	114	238				
ZNF233	353355	broad.mit.edu	37	19	44777511	44777511	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:44777511C>A	ENST00000391958.2	+	5	825	c.698C>A	c.(697-699)gCt>gAt	p.A233D	ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.A215D	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	233					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)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AGAGAGAAAGCTTTTAGCCAC	0.368																																						uc002oyz.1		NA																	0				skin(2)	2						c.(697-699)GCT>GAT		zinc finger protein 233							70.0	65.0	67.0					19																	44777511		2203	4300	6503	SO:0001583	missense	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44777511C>A	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.698C>A	19.37:g.44777511C>A	ENSP00000375820:p.Ala233Asp					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.A48D	p.A233D	NM_181756	NP_861421	A6NK53	ZN233_HUMAN			5	825	+		Prostate(69;0.0435)|all_neural(266;0.226)	233					B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.698C>A	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735703	0.30774	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.06528	3.29;3.47	3.92	-2.76	0.05896	.	.	.	.	.	T	0.03739	0.0106	N	0.24115	0.695	0.09310	N	1	B	0.26400	0.148	B	0.27076	0.076	T	0.44360	-0.9333	9	0.72032	D	0.01	0.4757	1.3008	0.02078	0.1497:0.4013:0.1474:0.3015	.	233	A6NK53	ZN233_HUMAN	D	215;233;154	ENSP00000334957:A215D;ENSP00000375820:A233D	ENSP00000280305:A154D	A	+	2	0	ZNF233	49469351	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	0.206000	0.17375	-0.164000	0.10927	-0.208000	0.12717	GCT		0.368	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		9	26	1	0	0.000274275	0.000447279	9	26				
CLASRP	11129	broad.mit.edu	37	19	45563652	45563652	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:45563652T>A	ENST00000221455.3	+	9	814	c.716T>A	c.(715-717)cTc>cAc	p.L239H	CLASRP_ENST00000544944.2_Missense_Mutation_p.L239H|CLASRP_ENST00000391953.4_Missense_Mutation_p.L177H	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	239					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						TATAGGATGCTCCGGAAAGAC	0.572																																						uc002pak.2		NA																	0					0						c.(715-717)CTC>CAC		splicing factor, arginine/serine-rich 16							87.0	76.0	80.0					19																	45563652		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45563652T>A	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.716T>A	19.37:g.45563652T>A	ENSP00000221455:p.Leu239His					SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.L177H|SFRS16_uc002pam.2_Missense_Mutation_p.L239H|SFRS16_uc002pan.1_RNA	p.L239H	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	9	814	+		Ovarian(192;0.0728)|all_neural(266;0.112)	239					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.716T>A	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595132	0.66219	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.62639	1.09;1.11;0.01;1.11	4.66	4.66	0.58398	.	0.000000	0.31721	U	0.007170	T	0.76449	0.3989	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.996	T	0.79127	-0.1931	10	0.72032	D	0.01	-17.3534	12.0878	0.53708	0.0:0.0:0.0:1.0	.	177;239;239	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	H	239;239;177;239	ENSP00000221455:L239H;ENSP00000375814:L239H;ENSP00000375815:L177H;ENSP00000438702:L239H	ENSP00000221455:L239H	L	+	2	0	CLASRP	50255492	1.000000	0.71417	0.990000	0.47175	0.622000	0.37654	7.340000	0.79292	1.969000	0.57287	0.460000	0.39030	CTC		0.572	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		8	28	0	0	0	0	8	28				
SYMPK	8189	broad.mit.edu	37	19	46328447	46328447	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:46328447C>G	ENST00000245934.7	-	18	2716	c.2472G>C	c.(2470-2472)ctG>ctC	p.L824L	SYMPK_ENST00000598155.1_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	824					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.L824L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAATGACCCTCAGCACCGTCC	0.647																																						uc002pdn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2470-2472)CTG>CTC		symplekin							119.0	90.0	100.0					19																	46328447		2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46328447C>G	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2472G>C	19.37:g.46328447C>G						SYMPK_uc002pdo.1_Silent_p.L824L|SYMPK_uc002pdp.1_Silent_p.L824L	p.L824L	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	18	2717	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	824					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.2472G>C	CCDS12676.2																																																																																				0.647	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		5	66	0	0	0	0	5	66				
ARHGAP35	2909	broad.mit.edu	37	19	47503732	47503732	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:47503732C>G	ENST00000404338.3	+	6	4287	c.4287C>G	c.(4285-4287)atC>atG	p.I1429M		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1429	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										AACTCTTTATCCAGCAGTGCC	0.597																																						uc010ekv.2		NA																	0				central_nervous_system(1)	1						c.(4285-4287)ATC>ATG		glucocorticoid receptor DNA binding factor 1							191.0	198.0	196.0					19																	47503732		2122	4225	6347	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47503732C>G	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4287C>G	19.37:g.47503732C>G	ENSP00000385720:p.Ile1429Met						p.I1429M	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	6	4287	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	1429			Rho-GAP.		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.4287C>G	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677524	0.68042	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.61158	0.13	5.6	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.80237	0.4586	M	0.88377	2.95	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.84066	0.0377	10	0.87932	D	0	-27.4703	16.5582	0.84512	0.0:0.9289:0.0:0.0711	.	1429	Q9NRY4-2	.	M	1429	ENSP00000385720:I1429M	ENSP00000324820:I1429M	I	+	3	3	ARHGAP35	52195572	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.650000	0.37292	0.741000	0.32674	-0.813000	0.03139	ATC		0.597	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		30	103	0	0	0	0	30	103				
NUP62	23636	broad.mit.edu	37	19	50412910	50412910	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:50412910G>C	ENST00000596217.1	-	2	2042	c.155C>G	c.(154-156)aCa>aGa	p.T52R	NUP62_ENST00000597723.1_Missense_Mutation_p.T52R|IL4I1_ENST00000341114.3_Intron|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.T52R|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000352066.3_Missense_Mutation_p.T52R|NUP62_ENST00000413454.1_Missense_Mutation_p.T52R|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000422090.2_Missense_Mutation_p.T52R			P37198	NUP62_HUMAN	nucleoporin 62kDa	52	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGGGTACTTGTGGCTGGTTG	0.567																																						uc002pqx.2		NA																	0					0						c.(154-156)ACA>AGA		nucleoporin 62kDa							123.0	129.0	127.0					19																	50412910		2203	4300	6503	SO:0001583	missense	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412910G>C	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.155C>G	19.37:g.50412910G>C	ENSP00000471191:p.Thr52Arg					IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.T52R|NUP62_uc002pqz.2_Missense_Mutation_p.T52R|NUP62_uc002pra.2_Missense_Mutation_p.T52R|NUP62_uc002prb.2_Missense_Mutation_p.T52R|NUP62_uc002prc.2_Missense_Mutation_p.T52R	p.T52R	NM_153719	NP_714941	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	259	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	52			15 X 9 AA approximate repeats.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	c.155C>G	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	G	6.284	0.420516	0.11928	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.39056	1.1;1.1;1.1	4.56	4.56	0.56223	Nucleoporin, NSP1-like, C-terminal (1);	0.761376	0.11032	U	0.607119	T	0.41351	0.1155	L	0.52011	1.625	0.25349	N	0.988883	B;B	0.16603	0.018;0.01	B;B	0.20955	0.032;0.014	T	0.27839	-1.0062	10	0.66056	D	0.02	-0.2477	13.1307	0.59380	0.0:0.0:1.0:0.0	.	52;52	Q8WYU3;P37198	.;NUP62_HUMAN	R	52	ENSP00000305503:T52R;ENSP00000407331:T52R;ENSP00000387991:T52R	ENSP00000321866:T52R	T	-	2	0	NUP62	55104722	0.024000	0.19004	0.007000	0.13788	0.031000	0.12232	2.211000	0.42825	2.806000	0.96561	0.655000	0.94253	ACA		0.567	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		7	134	0	0	0	0	7	134				
SIGLEC5	8778	broad.mit.edu	37	19	52115506	52115506	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:52115506G>A	ENST00000534261.2	-	10	2033	c.1634C>T	c.(1633-1635)tCg>tTg	p.S545L	SIGLEC5_ENST00000222107.4_Missense_Mutation_p.S545L|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S545L|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S545L|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S545L			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	545					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGATCTCCGAGTACTCCGT	0.537																																						uc002pxe.2		NA																	0				skin(2)|breast(1)|central_nervous_system(1)	4						c.(1633-1635)TCG>TTG		sialic acid binding Ig-like lectin 5 precursor							146.0	123.0	131.0					19																	52115506		2203	4300	6503	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52115506G>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1634C>T	19.37:g.52115506G>A	ENSP00000473238:p.Ser545Leu						p.S545L	NM_003830	NP_003821	O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	9	1773	-		all_neural(266;0.0726)	545			SLAM-like motif.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000534261.2	37	c.1634C>T	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143547	0.57044	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.15603	2.41;2.41	3.51	2.43	0.29744	.	.	.	.	.	T	0.33323	0.0859	M	0.78049	2.395	0.09310	N	1	D	0.89917	1.0	P	0.56788	0.806	T	0.08086	-1.0739	9	0.72032	D	0.01	.	8.0493	0.30568	0.0:0.0:0.7581:0.2419	.	545	O15389	SIGL5_HUMAN	L	545	ENSP00000222107:S545L;ENSP00000415200:S545L	ENSP00000222107:S545L	S	-	2	0	SIGLEC5	56807318	0.920000	0.31207	0.141000	0.22245	0.011000	0.07611	1.787000	0.38704	1.013000	0.39391	0.650000	0.86243	TCG		0.537	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		16	80	0	0	0	0	16	80				
APOB	338	broad.mit.edu	37	2	21224885	21224885	+	Missense_Mutation	SNP	G	G	A	rs574659380		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:21224885G>A	ENST00000233242.1	-	29	13536	c.13409C>T	c.(13408-13410)tCt>tTt	p.S4470F	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4470					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCAGTGGCAGAAAGCTCTGC	0.383																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(13408-13410)TCT>TTT		apolipoprotein B precursor	Atorvastatin(DB01076)						79.0	83.0	82.0					2																	21224885		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21224885G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13409C>T	2.37:g.21224885G>A	ENSP00000233242:p.Ser4470Phe						p.S4470F	NM_000384	NP_000375	P04114	APOB_HUMAN			29	13537	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4470					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.13409C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224934	0.58668	.	.	ENSG00000084674	ENST00000233242	T	0.38077	1.16	5.9	1.82	0.25136	.	0.358063	0.24083	N	0.041716	T	0.25865	0.0630	L	0.37850	1.14	0.80722	D	1	B	0.21905	0.062	B	0.20184	0.028	T	0.07558	-1.0766	10	0.87932	D	0	.	7.1924	0.25832	0.063:0.2314:0.5855:0.12	.	4470	P04114	APOB_HUMAN	F	4470	ENSP00000233242:S4470F	ENSP00000233242:S4470F	S	-	2	0	APOB	21078390	0.996000	0.38824	0.735000	0.30896	0.952000	0.60782	2.455000	0.44988	0.355000	0.24131	0.591000	0.81541	TCT		0.383	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			12	71	0	0	0	0	12	71				
PFN4	375189	broad.mit.edu	37	2	24345335	24345335	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:24345335A>T	ENST00000313213.4	-	2	442	c.71T>A	c.(70-72)aTc>aAc	p.I24N	RP11-507M3.1_ENST00000584973.1_5'Flank|FAM228B_ENST00000407625.1_5'Flank|PFN4_ENST00000465360.1_Intron|FAM228B_ENST00000420135.2_5'Flank	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	24					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGATTTTGATGAGGGCTGC	0.428																																						uc002rfa.1		NA																	0				ovary(1)	1						c.(70-72)ATC>AAC		profilin family, member 4							152.0	152.0	152.0					2																	24345335		2203	4300	6503	SO:0001583	missense	375189				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding	g.chr2:24345335A>T	BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.71T>A	2.37:g.24345335A>T	ENSP00000322170:p.Ile24Asn					LOC375190_uc002rew.2_Intron|LOC375190_uc010ykl.1_5'Flank|LOC375190_uc002rfb.2_5'Flank	p.I24N	NM_199346	NP_955378	Q8NHR9	PROF4_HUMAN			2	247	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		24					Q53TL9	Missense_Mutation	SNP	ENST00000313213.4	37	c.71T>A	CCDS1709.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.920848	0.73213	.	.	ENSG00000176732	ENST00000313213	D	0.87412	-2.25	5.04	5.04	0.67666	.	0.098535	0.44483	D	0.000456	D	0.92612	0.7653	M	0.80183	2.485	0.46044	D	0.998831	D	0.71674	0.998	D	0.69824	0.966	D	0.93309	0.6683	10	0.87932	D	0	0.5718	11.5022	0.50444	1.0:0.0:0.0:0.0	.	24	Q8NHR9	PROF4_HUMAN	N	24	ENSP00000322170:I24N	ENSP00000322170:I24N	I	-	2	0	PFN4	24198839	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.220000	0.65267	2.039000	0.60335	0.454000	0.30748	ATC		0.428	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207617.2	NM_199346		65	49	0	0	0	0	65	49				
DNMT3A	1788	broad.mit.edu	37	2	25463307	25463307	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:25463307C>T	ENST00000264709.3	-	19	2523	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	DNMT3A_ENST00000380746.4_Missense_Mutation_p.R540Q|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R729Q|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R506Q|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	729	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGAAGAGCCGGCCAGTGCC	0.612			"""Mis, F, N, S"""		AML																																	uc002rgc.2		NA		Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0		p.R729Q(1)|p.R729W(1)		haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(2185-2187)CGG>CAG		DNA cytosine methyltransferase 3 alpha isoform							55.0	56.0	56.0					2																	25463307		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25463307C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2186G>A	2.37:g.25463307C>T	ENSP00000264709:p.Arg729Gln					DNMT3A_uc002rgd.2_Missense_Mutation_p.R729Q|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.R540Q	p.R729Q	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			19	2443	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		729					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2186G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316268	0.95655	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87067	0.6085	L	0.33668	1.02	0.80722	D	1	D;D	0.89917	0.985;1.0	P;D	0.85130	0.473;0.997	D	0.87440	0.2394	10	0.51188	T	0.08	-10.1334	17.6755	0.88229	0.0:1.0:0.0:0.0	.	729;540	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	Q	540;729;729;506	ENSP00000370122:R540Q;ENSP00000324375:R729Q;ENSP00000264709:R729Q;ENSP00000384237:R506Q	ENSP00000264709:R729Q	R	-	2	0	DNMT3A	25316811	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.540000	0.85666	0.561000	0.74099	CGG		0.612	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		30	28	0	0	0	0	30	28				
EHBP1	23301	broad.mit.edu	37	2	63217961	63217961	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:63217961G>A	ENST00000263991.5	+	18	3414	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	EHBP1_ENST00000354487.3_Missense_Mutation_p.E943K|EHBP1_ENST00000431489.1_Missense_Mutation_p.E907K|EHBP1_ENST00000405289.1_Missense_Mutation_p.E943K|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.E907K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	978						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGAGAGCTCAGAGCAGGACAT	0.418																																						uc002sby.2		NA																	0				ovary(1)|breast(1)	2						c.(2932-2934)GAG>AAG		EH domain binding protein 1 isoform 1							83.0	87.0	86.0					2																	63217961		2203	4300	6503	SO:0001583	missense	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63217961G>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2932G>A	2.37:g.63217961G>A	ENSP00000263991:p.Glu978Lys					EHBP1_uc010fcp.2_Missense_Mutation_p.E907K|EHBP1_uc002sbz.2_Missense_Mutation_p.E907K|EHBP1_uc002scb.2_Missense_Mutation_p.E943K	p.E978K	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		18	3414	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		978					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.2932G>A	CCDS1872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.68|16.68	3.191310|3.191310	0.58017|0.58017	.|.	.|.	ENSG00000115504|ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289|ENST00000422032	T;T;T;T;T|.	0.73575|.	-0.75;-0.75;-0.76;-0.76;-0.76|.	5.46|5.46	4.55|4.55	0.56014|0.56014	.|.	0.188579|.	0.43260|.	N|.	0.000583|.	T|T	0.58148|0.58148	0.2102|0.2102	L|L	0.54323|0.54323	1.7|1.7	0.33921|0.33921	D|D	0.640855|0.640855	B;B;B|.	0.33000|.	0.385;0.0;0.393|.	B;B;B|.	0.34779|.	0.189;0.002;0.16|.	T|T	0.67852|0.67852	-0.5563|-0.5563	10|5	0.39692|.	T|.	0.17|.	.|.	13.4517|13.4517	0.61174|0.61174	0.0786:0.0:0.9214:0.0|0.0786:0.0:0.9214:0.0	.|.	943;907;978|.	Q8NDI1-2;Q8NDI1-3;Q8NDI1|.	.;.;EHBP1_HUMAN|.	K|K	907;907;978;943;943|137	ENSP00000384143:E907K;ENSP00000403783:E907K;ENSP00000263991:E978K;ENSP00000346482:E943K;ENSP00000385524:E943K|.	ENSP00000263991:E978K|.	E|R	+|+	1|2	0|0	EHBP1|EHBP1	63071465|63071465	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.976000|0.976000	0.68499|0.68499	5.109000|5.109000	0.64615|0.64615	1.241000|1.241000	0.43820|0.43820	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.418	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		6	38	0	0	0	0	6	38				
MEIS1	4211	broad.mit.edu	37	2	66775128	66775128	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:66775128C>T	ENST00000272369.9	+	9	1399	c.942C>T	c.(940-942)ctC>ctT	p.L314L	MEIS1_ENST00000398506.2_Silent_p.L312L|MEIS1_ENST00000495021.2_Silent_p.L249L|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000407092.2_Silent_p.L314L|MEIS1_ENST00000560281.2_Silent_p.L314L|MEIS1_ENST00000488550.1_Silent_p.L314L|MEIS1_ENST00000444274.2_3'UTR	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	314					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						ACACGGGACTCACCATCCTTC	0.423																																						uc002sdu.2		NA																	0					0						c.(940-942)CTC>CTT		Meis homeobox 1							117.0	116.0	117.0					2																	66775128		1951	4146	6097	SO:0001819	synonymous_variant	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66775128C>T		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.942C>T	2.37:g.66775128C>T						MEIS1_uc002sdt.2_Silent_p.L314L|MEIS1_uc002sdv.2_Silent_p.L312L|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Silent_p.L249L|MEIS1_uc002sdw.1_Silent_p.L170L	p.L314L	NM_002398	NP_002389	O00470	MEIS1_HUMAN			9	1399	+			314			Homeobox; TALE-type.		A8MV50	Silent	SNP	ENST00000272369.9	37	c.942C>T	CCDS46309.1																																																																																				0.423	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		13	31	0	0	0	0	13	31				
ASPRV1	151516	broad.mit.edu	37	2	70188034	70188034	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:70188034G>A	ENST00000320256.4	-	1	1363	c.787C>T	c.(787-789)Cta>Tta	p.L263L	PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGCTTGCCTAGGGACACCGCT	0.542																																						uc002sfz.3		NA																	0				ovary(1)	1						c.(787-789)CTA>TTA		aspartic peptidase, retroviral-like 1 precursor							110.0	94.0	99.0					2																	70188034		2203	4300	6503	SO:0001819	synonymous_variant	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188034G>A	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.787C>T	2.37:g.70188034G>A							p.L263L	NM_152792	NP_690005	Q53RT3	APRV1_HUMAN			1	1364	-			263			Peptidase A2.|Extracellular (Potential).			Silent	SNP	ENST00000320256.4	37	c.787C>T	CCDS1897.1																																																																																				0.542	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		25	60	0	0	0	0	25	60				
ZNF638	27332	broad.mit.edu	37	2	71653623	71653623	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:71653623G>T	ENST00000409544.1	+	24	5254	c.4624G>T	c.(4624-4626)Gtt>Ttt	p.V1542F	ZNF638_ENST00000409407.1_Missense_Mutation_p.V482F|ZNF638_ENST00000264447.4_Missense_Mutation_p.V1542F|ZNF638_ENST00000355812.3_Missense_Mutation_p.L1133F	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1542					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGATGAATTTGTTACTGTGGA	0.348																																						uc002shx.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(4624-4626)GTT>TTT		zinc finger protein 638							65.0	67.0	66.0					2																	71653623		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71653623G>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4624G>T	2.37:g.71653623G>T	ENSP00000386433:p.Val1542Phe					ZNF638_uc002shy.2_Missense_Mutation_p.V1542F|ZNF638_uc002shz.2_Missense_Mutation_p.V1542F|ZNF638_uc002sia.2_Missense_Mutation_p.V1542F|ZNF638_uc002sib.1_Missense_Mutation_p.L1133F|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.V639F|ZNF638_uc002sid.2_5'UTR	p.V1542F	NM_014497	NP_055312	Q14966	ZN638_HUMAN			24	4943	+			1542					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.4624G>T	CCDS1917.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.31|18.31	3.596903|3.596903	0.66332|0.66332	.|.	.|.	ENSG00000075292|ENSG00000075292	ENST00000355812|ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T|T;T;T	0.58210|0.57107	0.35|0.42;0.42;0.79	5.53|5.53	4.63|4.63	0.57726|0.57726	.|.	.|0.319627	.|0.22513	.|N	.|0.059079	T|T	0.60077|0.60077	0.2241|0.2241	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B|D;D	0.31859|0.76494	0.343|0.997;0.999	B|D;D	0.33799|0.80764	0.17|0.925;0.994	T|T	0.62996|0.62996	-0.6735|-0.6735	8|10	.|0.59425	.|D	.|0.04	-11.4556|-11.4556	14.0119|14.0119	0.64503|0.64503	0.0:0.1526:0.8474:0.0|0.0:0.1526:0.8474:0.0	.|.	1133|1542;1542	Q14966-4|Q14966-3;Q14966	.|.;ZN638_HUMAN	F|F	1133|1542;1542;482;482	ENSP00000348066:L1133F|ENSP00000264447:V1542F;ENSP00000386433:V1542F;ENSP00000386813:V482F	.|ENSP00000264447:V1542F	L|V	+|+	3|1	2|0	ZNF638|ZNF638	71507131|71507131	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.024000|5.024000	0.64090|0.64090	1.282000|1.282000	0.44496|0.44496	0.655000|0.655000	0.94253|0.94253	TTG|GTT		0.348	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		18	20	1	0	1.56e-12	2.67e-12	18	20				
REG1B	5968	broad.mit.edu	37	2	79314023	79314023	+	Missense_Mutation	SNP	C	C	G	rs372283770		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:79314023C>G	ENST00000305089.3	-	3	178	c.98G>C	c.(97-99)cGa>cCa	p.R33P		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	33					cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GCAGCTGATTCGGGGATTAGG	0.498																																						uc002sny.2		NA																	0		p.R33*(1)		central_nervous_system(1)|skin(1)	2						c.(97-99)CGA>CCA		regenerating islet-derived 1 beta precursor							134.0	135.0	135.0					2																	79314023		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79314023C>G		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.98G>C	2.37:g.79314023C>G	ENSP00000303206:p.Arg33Pro					REG1B_uc010ffv.1_Missense_Mutation_p.R33P|REG1B_uc010ffw.2_Missense_Mutation_p.R33P	p.R33P	NM_006507	NP_006498	P48304	REG1B_HUMAN			3	210	-			33						Missense_Mutation	SNP	ENST00000305089.3	37	c.98G>C	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	c	12.53	1.966159	0.34659	.	.	ENSG00000172023	ENST00000305089	T	0.07567	3.18	3.74	-1.18	0.09617	C-type lectin-like (1);	0.999489	0.08094	N	0.998911	T	0.17109	0.0411	M	0.85777	2.775	0.09310	N	1	D;D	0.56035	0.974;0.974	P;P	0.48270	0.572;0.572	T	0.20207	-1.0282	10	0.41790	T	0.15	.	7.2062	0.25909	0.0:0.4864:0.0:0.5136	.	33;33	Q6ICS1;P48304	.;REG1B_HUMAN	P	33	ENSP00000303206:R33P	ENSP00000303206:R33P	R	-	2	0	REG1B	79167531	0.000000	0.05858	0.000000	0.03702	0.497000	0.33675	-0.569000	0.05902	-0.413000	0.07507	0.561000	0.74099	CGA		0.498	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		68	53	0	0	0	0	68	53				
CTNNA2	1496	broad.mit.edu	37	2	79878701	79878701	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:79878701C>T	ENST00000402739.4	+	1	24	c.19C>T	c.(19-21)Cct>Tct	p.P7S	CTNNA2_ENST00000409266.1_Missense_Mutation_p.P7S|CTNNA2_ENST00000466387.1_Missense_Mutation_p.P7S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P41S|MIR4264_ENST00000583520.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P7S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P7S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P7S	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	7					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGCAACTTCACCTATCATTCT	0.403																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(19-21)CCT>TCT		catenin, alpha 2 isoform 1							92.0	88.0	89.0					2																	79878701		1877	4117	5994	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79878701C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.19C>T	2.37:g.79878701C>T	ENSP00000384638:p.Pro7Ser					CTNNA2_uc010yse.1_Missense_Mutation_p.P7S|CTNNA2_uc010ysf.1_Missense_Mutation_p.P7S|CTNNA2_uc010ysg.1_Missense_Mutation_p.P7S|hsa-mir-4264|MI0015877_5'Flank	p.P7S	NM_004389	NP_004380	P26232	CTNA2_HUMAN			1	24	+			7					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.19C>T		.	.	.	.	.	.	.	.	.	.	C	10.66	1.412000	0.25465	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000451966;ENST00000409971;ENST00000361291;ENST00000409266;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T	0.62364	1.37;1.37;0.03;1.34;1.37;1.37;1.37	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	L	0.35854	1.095	0.43729	D	0.996212	B;B;B	0.30406	0.278;0.234;0.234	B;B;B	0.33620	0.057;0.167;0.167	T	0.47971	-0.9075	10	0.07644	T	0.81	.	17.5418	0.87850	0.0:1.0:0.0:0.0	.	7;7;7	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	S	7;7;7;7;41;7;7;7;7	ENSP00000418191:P7S;ENSP00000419295:P7S;ENSP00000387073:P7S;ENSP00000355398:P41S;ENSP00000384638:P7S;ENSP00000444675:P7S;ENSP00000441705:P7S	ENSP00000355398:P41S	P	+	1	0	CTNNA2	79732209	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.352000	0.66028	2.736000	0.93811	0.563000	0.77884	CCT		0.403	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		24	57	0	0	0	0	24	57				
DPP10	57628	broad.mit.edu	37	2	116447315	116447315	+	Splice_Site	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:116447315G>A	ENST00000410059.1	+	6	974	c.494G>A	c.(493-495)aGg>aAg	p.R165K	DPP10_ENST00000409163.1_Splice_Site_p.R115K|DPP10_ENST00000393147.2_Splice_Site_p.R169K|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Splice_Site_p.R158K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	165						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATACACACTAGGTAAGTTCTT	0.264																																						uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(493-495)AGG>AAG		dipeptidyl peptidase 10 isoform long							91.0	88.0	89.0					2																	116447315		2203	4299	6502	SO:0001630	splice_region_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116447315G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.494+1G>A	2.37:g.116447315G>A						DPP10_uc002tlb.1_Missense_Mutation_p.R115K|DPP10_uc002tlc.1_Missense_Mutation_p.R161K|DPP10_uc002tle.2_Missense_Mutation_p.R169K|DPP10_uc002tlf.1_Missense_Mutation_p.R158K	p.R165K	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			6	951	+			165			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.494G>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	5.660	0.306422	0.10733	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;D;T;T	0.95588	1.62;1.62;-3.75;1.62;1.62	4.76	3.88	0.44766	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.114382	0.64402	D	0.000019	D	0.88433	0.6435	N	0.12471	0.22	0.35518	D	0.801213	B;B;B;B	0.33857	0.023;0.429;0.065;0.029	B;B;B;B	0.39738	0.023;0.308;0.063;0.038	D	0.85835	0.1394	10	0.02654	T	1	-5.1853	10.2872	0.43575	0.0911:0.0:0.9089:0.0	.	158;169;161;165	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	K	165;115;161;169;158;115	ENSP00000386565:R165K;ENSP00000387038:R115K;ENSP00000376854:R161K;ENSP00000376855:R169K;ENSP00000309066:R158K	ENSP00000309066:R158K	R	+	2	0	DPP10	116163785	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.204000	0.72143	1.224000	0.43551	0.585000	0.79938	AGG		0.264	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	Missense_Mutation	4	16	0	0	0	0	4	16				
LRP1B	53353	broad.mit.edu	37	2	141260622	141260622	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:141260622G>C	ENST00000389484.3	-	54	9543	c.8572C>G	c.(8572-8574)Ctt>Gtt	p.L2858V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2858	LDL-receptor class A 19. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATTTAGAAGACACCGCCCA	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8572-8574)CTT>GTT		low density lipoprotein-related protein 1B							152.0	141.0	145.0					2																	141260622		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141260622G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8572C>G	2.37:g.141260622G>C	ENSP00000374135:p.Leu2858Val	TSP Lung(27;0.18)					p.L2858V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	54	9544	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2858			Extracellular (Potential).|LDL-receptor class A 19.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8572C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283779	0.80803	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95342	-3.68	5.91	5.03	0.67393	.	0.084638	0.49305	N	0.000150	D	0.88145	0.6358	N	0.10782	0.045	0.48288	D	0.999626	B	0.25048	0.117	B	0.33568	0.166	D	0.83929	0.0305	10	0.32370	T	0.25	.	10.3356	0.43847	0.0698:0.1469:0.7833:0.0	.	2858	Q9NZR2	LRP1B_HUMAN	V	2858;2796	ENSP00000374135:L2858V	ENSP00000374135:L2858V	L	-	1	0	LRP1B	140977092	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	4.025000	0.57225	1.501000	0.48654	-0.228000	0.12330	CTT		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		20	52	0	0	0	0	20	52				
MBD5	55777	broad.mit.edu	37	2	149227843	149227843	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:149227843C>T	ENST00000407073.1	+	9	3328	c.2331C>T	c.(2329-2331)aaC>aaT	p.N777N	MBD5_ENST00000404807.1_Silent_p.N777N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	777					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGTCCCCAACCACCATCTTG	0.463																																						uc002twm.3		NA																	0				skin(3)|ovary(2)	5						c.(2329-2331)AAC>AAT		methyl-CpG binding domain protein 5							138.0	127.0	131.0					2																	149227843		2203	4300	6503	SO:0001819	synonymous_variant	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149227843C>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2331C>T	2.37:g.149227843C>T						MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Silent_p.N777N|MBD5_uc002twn.1_Silent_p.N218N	p.N777N	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	3319	+			777					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	c.2331C>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	2.190	-0.385570	0.04966	.	.	ENSG00000204406	ENST00000416015	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	T	0.72293	0.3442	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70450	-0.4868	4	.	.	.	-1.7154	16.9333	0.86196	0.0:1.0:0.0:0.0	.	.	.	.	I	517	.	.	T	+	2	0	MBD5	148944313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.770000	0.47662	2.746000	0.94184	0.655000	0.94253	ACC		0.463	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			21	63	0	0	0	0	21	63				
NEB	4703	broad.mit.edu	37	2	152499769	152499769	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:152499769C>G	ENST00000172853.10	-	58	8202	c.8055G>C	c.(8053-8055)ttG>ttC	p.L2685F	NEB_ENST00000604864.1_Missense_Mutation_p.L2685F|NEB_ENST00000603639.1_Missense_Mutation_p.L2685F|NEB_ENST00000397345.3_Missense_Mutation_p.L2685F|NEB_ENST00000427231.2_Missense_Mutation_p.L2685F|NEB_ENST00000409198.1_Missense_Mutation_p.L2685F			P20929	NEBU_HUMAN	nebulin	2685					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATGGTCACTCAAAATCTGGG	0.413																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(8053-8055)TTG>TTC		nebulin isoform 3							146.0	147.0	147.0					2																	152499769		1865	4103	5968	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152499769C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8055G>C	2.37:g.152499769C>G	ENSP00000172853:p.Leu2685Phe						p.L2685F	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	58	8246	-			2685			Nebulin 72.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.8055G>C		.	.	.	.	.	.	.	.	.	.	C	20.6	4.011571	0.75046	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.10860	2.95;2.97;2.97;2.83	5.68	4.79	0.61399	.	0.000000	0.64402	D	0.000003	T	0.25457	0.0619	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.00105	-1.2057	10	0.44086	T	0.13	.	11.2289	0.48901	0.0:0.8593:0.0:0.1407	.	2685	P20929	NEBU_HUMAN	F	2685	ENSP00000386259:L2685F;ENSP00000380505:L2685F;ENSP00000416578:L2685F;ENSP00000172853:L2685F	ENSP00000172853:L2685F	L	-	3	2	NEB	152208015	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.927000	0.28818	2.671000	0.90904	0.650000	0.86243	TTG		0.413	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		3	109	0	0	0	0	3	109				
XIRP2	129446	broad.mit.edu	37	2	168102261	168102261	+	Silent	SNP	T	T	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:168102261T>G	ENST00000409195.1	+	9	4448	c.4359T>G	c.(4357-4359)acT>acG	p.T1453T	XIRP2_ENST00000409273.1_Silent_p.T1231T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.T1453T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1278					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAACATCTACTTGGCTATTTG	0.348																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(4357-4359)ACT>ACG		xin actin-binding repeat containing 2 isoform 1							104.0	89.0	94.0					2																	168102261		1864	4114	5978	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102261T>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4359T>G	2.37:g.168102261T>G						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T1278T|XIRP2_uc010fpq.2_Silent_p.T1231T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.T1453T	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4377	+			1278			Xin 26.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.4359T>G	CCDS42769.1																																																																																				0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		10	15	0	0	0	0	10	15				
GPR155	151556	broad.mit.edu	37	2	175346518	175346518	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:175346518C>G	ENST00000392552.2	-	2	405	c.167G>C	c.(166-168)gGc>gCc	p.G56A	GPR155_ENST00000295500.4_Missense_Mutation_p.G56A|GPR155_ENST00000392551.2_Missense_Mutation_p.G56A	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	56					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TGCTATGTAGCCACAAAGGAC	0.418																																						uc002uit.2		NA																	0				ovary(1)	1						c.(166-168)GGC>GCC		G protein-coupled receptor 155 isoform 9							81.0	76.0	78.0					2																	175346518		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175346518C>G	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.167G>C	2.37:g.175346518C>G	ENSP00000376335:p.Gly56Ala					GPR155_uc002uiu.2_Missense_Mutation_p.G56A|GPR155_uc002uiv.2_Missense_Mutation_p.G56A|GPR155_uc010fqs.2_Missense_Mutation_p.G56A	p.G56A	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN			3	558	-			56			Helical; (Potential).		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.167G>C	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.805053	0.90623	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.80566	-1.39;-1.39;-1.39	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.91606	0.7348	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92255	0.5812	10	0.87932	D	0	-11.0424	20.024	0.97514	0.0:1.0:0.0:0.0	.	56	Q7Z3F1	GP155_HUMAN	A	56	ENSP00000376335:G56A;ENSP00000376334:G56A;ENSP00000295500:G56A	ENSP00000295500:G56A	G	-	2	0	GPR155	175054764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.718000	0.92993	0.655000	0.94253	GGC		0.418	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		12	34	0	0	0	0	12	34				
TTN	7273	broad.mit.edu	37	2	179395647	179395647	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:179395647G>T	ENST00000591111.1	-	308	100996	c.100772C>A	c.(100771-100773)cCa>cAa	p.P33591Q	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26292Q|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P26167Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P26359Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P35232Q|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P32664Q|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592182.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33591					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)			TTTGACTCTTGGTGGTGATGT	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.(97990-97992)CCA>CAA		titin isoform N2-A							144.0	141.0	142.0					2																	179395647		1884	4100	5984	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395647G>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.100772C>A	2.37:g.179395647G>T	ENSP00000465570:p.Pro33591Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P26359Q|TTN_uc010zfi.1_Missense_Mutation_p.P26292Q|TTN_uc010zfj.1_Missense_Mutation_p.P26167Q|TTN_uc002umq.2_5'Flank	p.P32664Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	98215	-			33591					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.97991C>A		.	.	.	.	.	.	.	.	.	.	G	16.60	3.167508	0.57476	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65178	-0.14;0.01;-0.01;-0.01	4.99	4.99	0.66335	Ribonuclease H-like (1);	.	.	.	.	T	0.57125	0.2032	L	0.32530	0.975	0.32938	D	0.517999	P;P;P;P	0.45902	0.868;0.868;0.868;0.868	B;B;B;B	0.42319	0.289;0.289;0.383;0.383	T	0.70941	-0.4735	9	0.87932	D	0	.	18.2867	0.90117	0.0:0.0:1.0:0.0	.	26167;26292;26359;33591	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	32664;26167;26359;26292;26164	ENSP00000343764:P32664Q;ENSP00000434586:P26167Q;ENSP00000340554:P26359Q;ENSP00000352154:P26292Q	ENSP00000340554:P26359Q	P	-	2	0	TTN	179103893	1.000000	0.71417	0.962000	0.40283	0.934000	0.57294	4.809000	0.62591	2.321000	0.78463	0.455000	0.32223	CCA		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	141	1	0	4.37e-10	7.39e-10	13	141				
TTN	7273	broad.mit.edu	37	2	179593094	179593094	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:179593094T>G	ENST00000591111.1	-	65	18730	c.18506A>C	c.(18505-18507)aAa>aCa	p.K6169T	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K6486T|TTN_ENST00000342992.6_Missense_Mutation_p.K5242T			Q8WZ42	TITIN_HUMAN	titin	12950	Ig-like 43.				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)			TTTGGTTAATTTTTTGGTGAA	0.358																																						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.(15724-15726)AAA>ACA		titin isoform N2-A							60.0	55.0	56.0					2																	179593094		1821	4086	5907	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593094T>G	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.18506A>C	2.37:g.179593094T>G	ENSP00000465570:p.Lys6169Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1903T	p.K5242T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		64	15949	-			6169					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.15725A>C		.	.	.	.	.	.	.	.	.	.	T	9.798	1.179815	0.21787	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.87	4.73	0.59995	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67795	0.2931	M	0.75085	2.285	0.80722	D	1	P	0.39717	0.684	B	0.40199	0.322	T	0.71255	-0.4647	9	0.87932	D	0	.	11.9007	0.52682	0.0:0.0676:0.0:0.9324	.	6169	Q8WZ42	TITIN_HUMAN	T	5242	ENSP00000343764:K5242T	ENSP00000343764:K5242T	K	-	2	0	TTN	179301339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.478000	0.53158	1.165000	0.42670	0.533000	0.62120	AAA		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	13	0	0	0	0	6	13				
TTN	7273	broad.mit.edu	37	2	179654776	179654776	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:179654776G>T	ENST00000591111.1	-	12	2091	c.1867C>A	c.(1867-1869)Caa>Aaa	p.Q623K	TTN_ENST00000359218.5_Missense_Mutation_p.Q577K|TTN_ENST00000460472.2_Missense_Mutation_p.Q577K|TTN_ENST00000342175.6_Missense_Mutation_p.Q577K|TTN_ENST00000589042.1_Missense_Mutation_p.Q623K|TTN_ENST00000342992.6_Missense_Mutation_p.Q623K|TTN_ENST00000360870.5_Missense_Mutation_p.Q623K			Q8WZ42	TITIN_HUMAN	titin	0					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)			ACTAAATCTTGTTCTTTGACT	0.348																																						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.(1867-1869)CAA>AAA		titin isoform N2-A							243.0	224.0	230.0					2																	179654776		2202	4300	6502	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179654776G>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.1867C>A	2.37:g.179654776G>T	ENSP00000465570:p.Gln623Lys					TTN_uc010zfh.1_Missense_Mutation_p.Q577K|TTN_uc010zfi.1_Missense_Mutation_p.Q577K|TTN_uc010zfj.1_Missense_Mutation_p.Q577K|TTN_uc002unb.2_Missense_Mutation_p.Q623K|TTN_uc010frg.1_Intron	p.Q623K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		12	2091	-			623					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.1867C>A		.	.	.	.	.	.	.	.	.	.	G	13.01	2.108208	0.37242	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.87	4.99	0.66335	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.51109	0.1655	M	0.68952	2.095	0.23277	N	0.997994	B;B;B;B;B	0.10296	0.003;0.002;0.003;0.002;0.003	B;B;B;B;B	0.12156	0.007;0.007;0.007;0.007;0.005	T	0.50268	-0.8848	9	0.87932	D	0	.	16.3725	0.83370	0.0:0.0:0.867:0.133	.	577;577;577;623;623	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	623;577;577;577;577;623	ENSP00000343764:Q623K;ENSP00000434586:Q577K;ENSP00000340554:Q577K;ENSP00000352154:Q577K;ENSP00000354117:Q623K	ENSP00000340554:Q577K	Q	-	1	0	TTN	179363021	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.042000	0.64202	1.470000	0.48102	-0.181000	0.13052	CAA		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	27	1	0	3.52e-12	6e-12	18	27				
TTN	7273	broad.mit.edu	37	2	179655440	179655440	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:179655440C>T	ENST00000591111.1	-	11	2019	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E599K|TTN_ENST00000342992.6_Missense_Mutation_p.E599K|TTN_ENST00000360870.5_Missense_Mutation_p.E599K			Q8WZ42	TITIN_HUMAN	titin	0					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)			ATCACCTTTTCATAACTTAGG	0.408																																						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.(1795-1797)GAA>AAA		titin isoform N2-A							325.0	270.0	288.0					2																	179655440		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179655440C>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.1795G>A	2.37:g.179655440C>T	ENSP00000465570:p.Glu599Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002unb.2_Missense_Mutation_p.E599K|TTN_uc010frg.1_Intron	p.E599K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		11	2019	-			599					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.1795G>A		.	.	.	.	.	.	.	.	.	.	C	10.96	1.497427	0.26861	.	.	ENSG00000155657	ENST00000342992;ENST00000360870	T;T	0.54675	0.56;0.56	4.96	4.96	0.65561	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.50137	0.1598	L	0.39020	1.185	0.80722	D	1	B;P	0.42692	0.099;0.787	B;B	0.42771	0.152;0.397	T	0.57087	-0.7871	9	0.87932	D	0	.	18.3986	0.90507	0.0:1.0:0.0:0.0	.	599;599	Q8WZ42;Q8WZ42-6	TITIN_HUMAN;.	K	599	ENSP00000343764:E599K;ENSP00000354117:E599K	ENSP00000343764:E599K	E	-	1	0	TTN	179363685	0.897000	0.30589	0.756000	0.31282	0.059000	0.15707	1.767000	0.38501	2.570000	0.86706	0.655000	0.94253	GAA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	82	0	0	0	0	6	82				
PMS1	5378	broad.mit.edu	37	2	190719576	190719576	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:190719576T>C	ENST00000441310.2	+	9	1811	c.1578T>C	c.(1576-1578)tgT>tgC	p.C526C	PMS1_ENST00000418224.3_Silent_p.C350C|PMS1_ENST00000432292.3_Silent_p.C350C|PMS1_ENST00000447232.2_Silent_p.C526C|PMS1_ENST00000409823.3_Silent_p.C487C|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	526					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GTTTACCATGTAAAGTAAGTA	0.294			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.3		NA	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(1576-1578)TGT>TGC	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							34.0	39.0	37.0					2																	190719576		2182	4292	6474	SO:0001819	synonymous_variant	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190719576T>C		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1578T>C	2.37:g.190719576T>C						PMS1_uc010zga.1_Silent_p.C487C|PMS1_uc010zgb.1_Silent_p.C465C|PMS1_uc002urk.3_Silent_p.C487C|PMS1_uc002uri.3_Silent_p.C526C|PMS1_uc010zgc.1_Silent_p.C350C|PMS1_uc010zgd.1_Silent_p.C350C|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Silent_p.C487C|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Silent_p.C311C|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Silent_p.C194C	p.C526C	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		9	2107	+			526					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Silent	SNP	ENST00000441310.2	37	c.1578T>C	CCDS2302.1																																																																																				0.294	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			12	30	0	0	0	0	12	30				
STAT1	6772	broad.mit.edu	37	2	191863005	191863005	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:191863005C>T	ENST00000361099.3	-	8	958	c.571G>A	c.(571-573)Gat>Aat	p.D191N	STAT1_ENST00000540176.1_Intron|STAT1_ENST00000409465.1_Missense_Mutation_p.D191N|STAT1_ENST00000392323.2_Missense_Mutation_p.D193N|STAT1_ENST00000392322.3_Missense_Mutation_p.D191N	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	191					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TGTTTCTGATCACTCTTTGCC	0.338																																						uc002usj.2		NA																	0				lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(571-573)GAT>AAT		signal transducer and activator of transcription	Fludarabine(DB01073)						171.0	163.0	166.0					2																	191863005		2202	4299	6501	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191863005C>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.571G>A	2.37:g.191863005C>T	ENSP00000354394:p.Asp191Asn					STAT1_uc010fse.1_Missense_Mutation_p.D191N|STAT1_uc002usk.2_Missense_Mutation_p.D191N|STAT1_uc002usl.2_Missense_Mutation_p.D193N|STAT1_uc010fsf.1_Intron	p.D191N	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		8	959	-			191					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.571G>A	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	9.354	1.066204	0.20067	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323;ENST00000544783	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	4.59	4.59	0.56863	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.372502	0.32503	N	0.006001	T	0.52058	0.1711	L	0.47716	1.5	0.80722	D	1	P;B	0.34462	0.454;0.091	B;B	0.35688	0.208;0.139	T	0.48080	-0.9066	10	0.16896	T	0.51	-13.2579	17.9657	0.89099	0.0:1.0:0.0:0.0	.	191;191	P42224-2;P42224	.;STAT1_HUMAN	N	191;191;191;193;99	ENSP00000354394:D191N;ENSP00000386244:D191N;ENSP00000376136:D191N;ENSP00000376137:D193N	ENSP00000354394:D191N	D	-	1	0	STAT1	191571250	1.000000	0.71417	0.375000	0.26029	0.024000	0.10985	6.066000	0.71185	2.536000	0.85505	0.655000	0.94253	GAT		0.338	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		7	64	0	0	0	0	7	64				
DNAH7	56171	broad.mit.edu	37	2	196664153	196664153	+	Missense_Mutation	SNP	C	C	T	rs186433996	byFrequency	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:196664153C>T	ENST00000312428.6	-	55	10320	c.10220G>A	c.(10219-10221)cGt>cAt	p.R3407H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3407	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATGAATGCACGTCCCAATCT	0.418													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15074	0.0		0.0	False		,,,				2504	0.0					uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(10219-10221)CGT>CAT		dynein, axonemal, heavy chain 7							100.0	101.0	101.0					2																	196664153		1861	4102	5963	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196664153C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10220G>A	2.37:g.196664153C>T	ENSP00000311273:p.Arg3407His						p.R3407H	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			55	10321	-			3407			AAA 6 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10220G>A	CCDS42794.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.157	0.788576	0.16258	.	.	ENSG00000118997	ENST00000312428	T	0.08370	3.1	5.07	5.07	0.68467	Dynein heavy chain (1);	0.124768	0.53938	D	0.000051	T	0.09202	0.0227	L	0.42245	1.32	0.36895	D	0.890084	B	0.21688	0.059	B	0.21546	0.035	T	0.07966	-1.0745	10	0.49607	T	0.09	.	11.6916	0.51519	0.0:0.9184:0.0:0.0816	.	3407	Q8WXX0	DYH7_HUMAN	H	3407	ENSP00000311273:R3407H	ENSP00000311273:R3407H	R	-	2	0	DNAH7	196372398	0.619000	0.27059	0.364000	0.25888	0.038000	0.13279	1.371000	0.34250	2.619000	0.88677	0.557000	0.71058	CGT		0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		28	75	0	0	0	0	28	75				
GTF3C3	9330	broad.mit.edu	37	2	197641315	197641315	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:197641315C>T	ENST00000263956.3	-	11	1518	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	477					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCATAGCTTTCAGCAGCTCGC	0.438																																						uc002uts.2		NA																	0				ovary(3)|breast(3)|pancreas(1)	7						c.(1429-1431)GAA>AAA		general transcription factor IIIC, polypeptide							100.0	103.0	102.0					2																	197641315		2203	4300	6503	SO:0001583	missense	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197641315C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1429G>A	2.37:g.197641315C>T	ENSP00000263956:p.Glu477Lys					GTF3C3_uc010zgu.1_Missense_Mutation_p.E448K	p.E477K	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN			11	1519	-			477			TPR 8.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	c.1429G>A	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902734	0.52227	.	.	ENSG00000119041	ENST00000263956	T	0.20069	2.1	5.87	4.94	0.65067	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.054132	0.64402	D	0.000001	T	0.17534	0.0421	L	0.38838	1.175	0.80722	D	1	B	0.25772	0.134	B	0.23574	0.047	T	0.04621	-1.0938	10	0.13108	T	0.6	-22.7624	16.4883	0.84191	0.0:0.8692:0.1308:0.0	.	477	Q9Y5Q9	TF3C3_HUMAN	K	477	ENSP00000263956:E477K	ENSP00000263956:E477K	E	-	1	0	GTF3C3	197349560	0.997000	0.39634	0.893000	0.35052	0.916000	0.54674	3.633000	0.54295	2.775000	0.95449	0.650000	0.86243	GAA		0.438	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			5	87	0	0	0	0	5	87				
FN1	2335	broad.mit.edu	37	2	216286886	216286886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:216286886G>C	ENST00000359671.1	-	10	1739	c.1474C>G	c.(1474-1476)Cac>Gac	p.H492D	FN1_ENST00000336916.4_Missense_Mutation_p.H492D|FN1_ENST00000432072.2_Missense_Mutation_p.H492D|FN1_ENST00000354785.4_Missense_Mutation_p.H492D|FN1_ENST00000346544.3_Missense_Mutation_p.H492D|FN1_ENST00000426059.1_Missense_Mutation_p.H492D|FN1_ENST00000357009.2_Missense_Mutation_p.H492D|FN1_ENST00000421182.1_Missense_Mutation_p.H492D|FN1_ENST00000357867.4_Missense_Mutation_p.H492D|FN1_ENST00000446046.1_Missense_Mutation_p.H492D|FN1_ENST00000443816.1_Missense_Mutation_p.H492D|FN1_ENST00000345488.5_Missense_Mutation_p.H492D|FN1_ENST00000323926.6_Missense_Mutation_p.H492D|FN1_ENST00000356005.4_Missense_Mutation_p.H492D			P02751	FINC_HUMAN	fibronectin 1	492	Collagen-binding.|Fibronectin type-I 7. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTCATCATGTGACCCATGTCA	0.478																																						uc002vfa.2		NA																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(1474-1476)CAC>GAC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						284.0	221.0	243.0					2																	216286886		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216286886G>C		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1474C>G	2.37:g.216286886G>C	ENSP00000352696:p.His492Asp					FN1_uc002vfb.2_Missense_Mutation_p.H492D|FN1_uc002vfc.2_Missense_Mutation_p.H492D|FN1_uc002vfd.2_Missense_Mutation_p.H492D|FN1_uc002vfe.2_Missense_Mutation_p.H492D|FN1_uc002vff.2_Missense_Mutation_p.H492D|FN1_uc002vfg.2_Missense_Mutation_p.H492D|FN1_uc002vfh.2_Missense_Mutation_p.H492D|FN1_uc002vfi.2_Missense_Mutation_p.H492D|FN1_uc002vfj.2_Missense_Mutation_p.H492D|FN1_uc002vfl.2_Missense_Mutation_p.H492D	p.H492D	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	10	1740	-		Renal(323;0.127)	492			Collagen-binding.|Fibronectin type-I 7.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1474C>G		.	.	.	.	.	.	.	.	.	.	G	29.9	5.042842	0.93685	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.67711	0.2922	M	0.77103	2.36	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;P	0.76494	0.999;0.979;0.991;0.671;0.992;0.993;0.999;0.991;0.992;0.992;0.503	D;D;P;B;P;P;D;D;P;P;B	0.87578	0.998;0.949;0.875;0.288;0.826;0.891;0.997;0.97;0.826;0.826;0.17	T	0.69873	-0.5027	10	0.56958	D	0.05	.	19.2559	0.93945	0.0:0.0:1.0:0.0	.	492;492;492;492;492;492;492;492;492;492;492	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	D	492	ENSP00000394423:H492D;ENSP00000323534:H492D;ENSP00000338200:H492D;ENSP00000350534:H492D;ENSP00000346839:H492D;ENSP00000352696:H492D;ENSP00000265312:H492D;ENSP00000273049:H492D;ENSP00000349509:H492D;ENSP00000410422:H492D;ENSP00000415018:H492D;ENSP00000399538:H492D;ENSP00000348285:H492D;ENSP00000398907:H492D	ENSP00000265313:H492D	H	-	1	0	FN1	215995131	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.018000	0.88722	2.549000	0.85964	0.650000	0.86243	CAC		0.478	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		21	100	0	0	0	0	21	100				
SP140	11262	broad.mit.edu	37	2	231112644	231112644	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:231112644C>T	ENST00000392045.3	+	8	870	c.756C>T	c.(754-756)aaC>aaT	p.N252N	SP140_ENST00000420434.3_Silent_p.N252N|SP140_ENST00000343805.6_Silent_p.N226N|SP140_ENST00000350136.5_Intron|SP140_ENST00000486687.2_Intron|SP140_ENST00000417495.3_Intron	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	252					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAGAAAGCAACGGGATGATAG	0.443																																						uc002vql.2		NA																	0					0						c.(754-756)AAC>AAT		SP140 nuclear body protein isoform 1							160.0	154.0	156.0					2																	231112644		1941	4152	6093	SO:0001819	synonymous_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231112644C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.756C>T	2.37:g.231112644C>T						SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Silent_p.N252N|SP140_uc002vqn.2_Intron|SP140_uc002vqm.2_Silent_p.N226N|SP140_uc010fxl.2_Silent_p.N252N	p.N252N	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	8	871	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	252					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	c.756C>T	CCDS42831.1																																																																																				0.443	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		32	70	0	0	0	0	32	70				
GBX2	2637	broad.mit.edu	37	2	237075004	237075004	+	Silent	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:237075004C>A	ENST00000306318.4	-	2	997	c.600G>T	c.(598-600)tcG>tcT	p.S200S	AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_Missense_Mutation_p.A213S|AC079135.1_ENST00000415226.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	200					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CGCTCTCCAGCGAGAAGCTCT	0.602																																						uc002vvw.1		NA																	0					0						c.(598-600)TCG>TCT		gastrulation brain homeo box 2							91.0	88.0	89.0					2																	237075004		2203	4300	6503	SO:0001819	synonymous_variant	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237075004C>A	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.600G>T	2.37:g.237075004C>A						GBX2_uc010zng.1_Missense_Mutation_p.A203S	p.S200S	NM_001485	NP_001476	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	2	638	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	200					B2RPH7|O43833|Q53RX5|Q9Y5Y1	Silent	SNP	ENST00000306318.4	37	c.600G>T	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323945	0.24080	.	.	ENSG00000168505	ENST00000551105	.	.	.	4.29	-3.76	0.04359	.	.	.	.	.	T	0.15782	0.0380	.	.	.	0.20975	N	0.999819	B	0.02656	0.0	B	0.04013	0.001	T	0.24154	-1.0168	6	.	.	.	-11.4912	2.6683	0.05059	0.095:0.3124:0.3154:0.2772	.	213	F8VY47	.	S	213	.	.	A	-	1	0	GBX2	236739743	0.927000	0.31430	0.978000	0.43139	0.986000	0.74619	-0.009000	0.12765	-0.683000	0.05190	-0.368000	0.07277	GCT		0.602	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		39	79	1	0	2.76e-19	4.76e-19	39	79				
TGM6	343641	broad.mit.edu	37	20	2375175	2375175	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:2375175G>A	ENST00000202625.2	+	2	146	c.85G>A	c.(85-87)Gag>Aag	p.E29K	TGM6_ENST00000381423.1_Missense_Mutation_p.E29K|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	29					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCCCTGCCCTGAGCTGGTGGT	0.627																																						uc002wfy.1		NA																	0				ovary(3)|skin(1)	4						c.(85-87)GAG>AAG		transglutaminase 6	L-Glutamine(DB00130)						43.0	37.0	39.0					20																	2375175		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375175G>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.85G>A	20.37:g.2375175G>A	ENSP00000202625:p.Glu29Lys					TGM6_uc010gal.1_Missense_Mutation_p.E29K	p.E29K	NM_198994	NP_945345	O95932	TGM3L_HUMAN			2	146	+			29					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.85G>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519668	0.44866	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.84370	-1.84;-1.84	4.49	1.46	0.22682	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.556527	0.19387	N	0.115505	T	0.77096	0.4080	L	0.39397	1.21	0.09310	N	1	B;B	0.29136	0.196;0.234	B;B	0.30105	0.111;0.079	T	0.65471	-0.6160	10	0.44086	T	0.13	-4.0325	8.753	0.34629	0.2388:0.0:0.7612:0.0	.	29;29	O95932-2;O95932	.;TGM3L_HUMAN	K	29	ENSP00000202625:E29K;ENSP00000370831:E29K	ENSP00000202625:E29K	E	+	1	0	TGM6	2323175	0.001000	0.12720	0.053000	0.19242	0.995000	0.86356	0.335000	0.19806	0.240000	0.21263	0.462000	0.41574	GAG		0.627	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		4	30	0	0	0	0	4	30				
TM9SF4	9777	broad.mit.edu	37	20	30729430	30729430	+	Silent	SNP	C	C	T	rs117023270	byFrequency	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:30729430C>T	ENST00000398022.2	+	4	595	c.360C>T	c.(358-360)ctC>ctT	p.L120L	TM9SF4_ENST00000217315.5_Silent_p.L103L	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	120						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGAGCCGACTCGTGGCCGAGC	0.577													C|||	11	0.00219649	0.0	0.0	5008	,	,		19909	0.0109		0.0	False		,,,				2504	0.0					uc002wxj.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(358-360)CTC>CTT		transmembrane 9 superfamily protein member 4							100.0	99.0	100.0					20																	30729430		2203	4300	6503	SO:0001819	synonymous_variant	9777					integral to membrane		g.chr20:30729430C>T	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.360C>T	20.37:g.30729430C>T						TM9SF4_uc010ztr.1_Silent_p.L46L|TM9SF4_uc010zts.1_Silent_p.L27L|TM9SF4_uc002wxk.2_Silent_p.L103L|TM9SF4_uc010gdz.2_Silent_p.L27L	p.L120L	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		4	595	+			120					B0QYT7|Q9NUA3	Silent	SNP	ENST00000398022.2	37	c.360C>T	CCDS13196.2																																																																																				0.577	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		9	137	0	0	0	0	9	137				
NCOA6	23054	broad.mit.edu	37	20	33329653	33329653	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:33329653T>C	ENST00000374796.2	-	12	6977	c.4407A>G	c.(4405-4407)aaA>aaG	p.K1469K	NCOA6_ENST00000359003.2_Silent_p.K1469K			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1469					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CACTGGGAAGTTTGTTAGGAT	0.448																																						uc002xav.2		NA																	0				ovary(3)|breast(3)|central_nervous_system(1)	7						c.(4405-4407)AAA>AAG		nuclear receptor coactivator 6							108.0	100.0	103.0					20																	33329653		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33329653T>C	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4407A>G	20.37:g.33329653T>C						NCOA6_uc002xaw.2_Silent_p.K1469K	p.K1469K	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			12	6978	-			1469					A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.4407A>G	CCDS13241.1																																																																																				0.448	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		31	140	0	0	0	0	31	140				
KIAA1755	85449	broad.mit.edu	37	20	36850870	36850870	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:36850870C>G	ENST00000279024.4	-	10	2669	c.2398G>C	c.(2398-2400)Gac>Cac	p.D800H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	800										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGGCTGAAGTCCAGCCTGCTG	0.642											OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xhy.1		NA																	0				ovary(4)|pancreas(1)	5						c.(2398-2400)GAC>CAC		hypothetical protein LOC85449							73.0	71.0	71.0					20																	36850870		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36850870C>G	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2398G>C	20.37:g.36850870C>G	ENSP00000279024:p.Asp800His		OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	866	KIAA1755_uc002xhx.1_Missense_Mutation_p.D78H	p.D800H	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			10	2670	-		Myeloproliferative disorder(115;0.00874)	800					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.2398G>C	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118862	0.37436	.	.	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.22743	3.33;1.94	5.09	1.92	0.25849	.	0.632209	0.13920	N	0.353633	T	0.23649	0.0572	L	0.44542	1.39	0.09310	N	1	D;P	0.57899	0.981;0.925	P;P	0.54965	0.765;0.561	T	0.13469	-1.0508	10	0.52906	T	0.07	.	1.2029	0.01889	0.1787:0.4426:0.1741:0.2047	.	800;308	Q5JYT7;E9PFS1	K1755_HUMAN;.	H	800;308;99	ENSP00000279024:D800H;ENSP00000393503:D99H	ENSP00000279024:D800H	D	-	1	0	KIAA1755	36284284	0.005000	0.15991	0.851000	0.33527	0.978000	0.69477	-0.270000	0.08584	0.248000	0.21435	0.561000	0.74099	GAC		0.642	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		10	95	0	0	0	0	10	95				
PLCG1	5335	broad.mit.edu	37	20	39791883	39791883	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:39791883G>C	ENST00000373271.1	+	8	1162	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	PLCG1_ENST00000373272.2_Missense_Mutation_p.E253Q|PLCG1_ENST00000244007.3_Missense_Mutation_p.E253Q	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	253					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTCCCTTCCTGAGTTCCAGCA	0.607																																						uc002xjp.1		NA																	0				lung(3)|breast(3)|skin(2)	8						c.(757-759)GAG>CAG		phospholipase C, gamma 1 isoform b							99.0	95.0	97.0					20																	39791883		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39791883G>C	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.757G>C	20.37:g.39791883G>C	ENSP00000362368:p.Glu253Gln					PLCG1_uc002xjo.1_Missense_Mutation_p.E253Q|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.2_5'Flank	p.E253Q	NM_182811	NP_877963	P19174	PLCG1_HUMAN			8	878	+		Myeloproliferative disorder(115;0.00878)	253					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.757G>C	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421667	0.62622	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.50001	0.76;0.76;0.76	5.59	5.59	0.84812	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);	0.203874	0.51477	D	0.000084	T	0.44850	0.1313	L	0.42245	1.32	0.51767	D	0.999933	B;B	0.29232	0.238;0.122	B;B	0.32211	0.142;0.142	T	0.38045	-0.9679	10	0.49607	T	0.09	.	16.3174	0.82932	0.0:0.0:1.0:0.0	.	253;253	P19174;A2A284	PLCG1_HUMAN;.	Q	253	ENSP00000244007:E253Q;ENSP00000362368:E253Q;ENSP00000362369:E253Q	ENSP00000244007:E253Q	E	+	1	0	PLCG1	39225297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.440000	0.66563	2.644000	0.89710	0.561000	0.74099	GAG		0.607	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		20	111	0	0	0	0	20	111				
SLCO4A1	28231	broad.mit.edu	37	20	61292481	61292481	+	Missense_Mutation	SNP	G	G	A	rs138628669	byFrequency	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:61292481G>A	ENST00000370507.1	+	4	1171	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.E359K|RP11-93B14.5_ENST00000433126.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	359					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CAGCCGTGGGGAGGCGAGCAA	0.617													g|||	2	0.000399361	0.0	0.0	5008	,	,		11398	0.0		0.0	False		,,,				2504	0.002				Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1		NA																	0				ovary(1)	1						c.(1075-1077)GAG>AAG		solute carrier organic anion transporter family			LYS/GLU	0,4406		0,0,2203	92.0	82.0	85.0		1075	-3.7	0.0	20	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLCO4A1	NM_016354.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	359/723	61292481	1,13005	2203	4300	6503	SO:0001583	missense	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61292481G>A	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1075G>A	20.37:g.61292481G>A	ENSP00000359538:p.Glu359Lys					SLCO4A1_uc002ydc.1_RNA	p.E359K	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		5	1280	+	Breast(26;3.65e-08)		359			Cytoplasmic (Potential).		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	c.1075G>A	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.335575	0.01287	0.0	1.16E-4	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	T;T	0.38722	1.12;1.12	4.16	-3.73	0.04398	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.050770	0.07692	U	0.938941	T	0.15522	0.0374	N	0.04724	-0.175	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32534	-0.9903	10	0.05351	T	0.99	.	6.8209	0.23857	0.7156:0.0:0.1393:0.1451	.	359	Q96BD0	SO4A1_HUMAN	K	359	ENSP00000217159:E359K;ENSP00000359538:E359K	ENSP00000217159:E359K	E	+	1	0	SLCO4A1	60762926	0.010000	0.17322	0.000000	0.03702	0.002000	0.02628	1.845000	0.39279	-0.705000	0.05035	-0.385000	0.06624	GAG		0.617	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		30	67	0	0	0	0	30	67				
DIDO1	11083	broad.mit.edu	37	20	61541176	61541176	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:61541176C>G	ENST00000266070.4	-	4	1361	c.1036G>C	c.(1036-1038)Gat>Cat	p.D346H	DIDO1_ENST00000370371.4_Missense_Mutation_p.D346H|DIDO1_ENST00000266071.5_Missense_Mutation_p.D346H|DIDO1_ENST00000395340.1_Missense_Mutation_p.D346H|DIDO1_ENST00000395343.1_Missense_Mutation_p.D346H|DIDO1_ENST00000395335.2_Missense_Mutation_p.D346H|DIDO1_ENST00000370368.1_Missense_Mutation_p.D346H|DIDO1_ENST00000354665.4_Missense_Mutation_p.D346H|DIDO1_ENST00000370366.1_Missense_Mutation_p.D346H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	346					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCGGTGCCATCAGCATCTCCA	0.458																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(1036-1038)GAT>CAT		death inducer-obliterator 1 isoform c							190.0	168.0	176.0					20																	61541176		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61541176C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1036G>C	20.37:g.61541176C>G	ENSP00000266070:p.Asp346His					DIDO1_uc002yds.1_Missense_Mutation_p.D346H|DIDO1_uc002ydt.1_Missense_Mutation_p.D346H|DIDO1_uc002ydu.1_Missense_Mutation_p.D346H|DIDO1_uc002ydv.1_Missense_Mutation_p.D346H|DIDO1_uc002ydw.1_Missense_Mutation_p.D346H|DIDO1_uc002ydx.1_Missense_Mutation_p.D346H|DIDO1_uc011aao.1_Missense_Mutation_p.D346H	p.D346H	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			4	1300	-	Breast(26;5.68e-08)		346					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1036G>C	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859339	0.51376	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.20463	2.93;2.93;2.57;2.57;2.07;2.07;2.07;2.08;2.08	5.35	5.35	0.76521	.	0.000000	0.44483	D	0.000455	T	0.44286	0.1286	M	0.70595	2.14	0.31605	N	0.652258	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.994;0.964;0.998	T	0.53514	-0.8428	10	0.72032	D	0.01	-29.1614	11.8334	0.52309	0.0:0.92:0.0:0.08	.	346;346;346;346	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	H	346	ENSP00000266070:D346H;ENSP00000378752:D346H;ENSP00000378749:D346H;ENSP00000378744:D346H;ENSP00000359397:D346H;ENSP00000359394:D346H;ENSP00000346692:D346H;ENSP00000359391:D346H;ENSP00000266071:D346H	ENSP00000266070:D346H	D	-	1	0	DIDO1	61011621	1.000000	0.71417	0.033000	0.17914	0.011000	0.07611	6.630000	0.74272	2.661000	0.90470	0.555000	0.69702	GAT		0.458	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		7	170	0	0	0	0	7	170				
SAMD10	140700	broad.mit.edu	37	20	62608706	62608706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:62608706C>T	ENST00000369886.3	-	2	319	c.145G>A	c.(145-147)Gag>Aag	p.E49K	ZNF512B_ENST00000450537.1_Intron|SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000217130.3_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	49										kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGGATGCTCTCAGCTGACACC	0.652																																						uc002yhm.2		NA																	0					0						c.(145-147)GAG>AAG		sterile alpha motif domain containing 10							70.0	70.0	70.0					20																	62608706		2203	4300	6503	SO:0001583	missense	140700							g.chr20:62608706C>T		CCDS13549.1	20q13.33	2013-01-10	2004-07-15	2004-07-16	ENSG00000130590	ENSG00000130590		"""Sterile alpha motif (SAM) domain containing"""	16129	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 136"""	C20orf136			Standard	NM_080621		Approved		uc002yhm.2	Q9BYL1	OTTHUMG00000033011	ENST00000369886.3:c.145G>A	20.37:g.62608706C>T	ENSP00000358902:p.Glu49Lys					SAMD10_uc002yhn.2_RNA	p.E49K	NM_080621	NP_542188	Q9BYL1	SAM10_HUMAN			2	320	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		49						Missense_Mutation	SNP	ENST00000369886.3	37	c.145G>A	CCDS13549.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189206	0.94923	.	.	ENSG00000130590	ENST00000369886;ENST00000450107	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	L	0.34521	1.04	0.54753	D	0.999988	D	0.63880	0.993	D	0.70935	0.971	T	0.69665	-0.5084	9	0.62326	D	0.03	-22.7545	15.6883	0.77430	0.0:1.0:0.0:0.0	.	49	Q9BYL1	SAM10_HUMAN	K	49;88	.	ENSP00000358902:E49K	E	-	1	0	SAMD10	62079150	1.000000	0.71417	0.947000	0.38551	0.900000	0.52787	5.261000	0.65496	2.135000	0.66039	0.313000	0.20887	GAG		0.652	SAMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080255.1	NM_080621		9	92	0	0	0	0	9	92				
GABPA	2551	broad.mit.edu	37	21	27130510	27130510	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr21:27130510G>A	ENST00000354828.3	+	6	1270	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	GABPA_ENST00000400075.3_Missense_Mutation_p.R248Q	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	248	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription 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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R248Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GAACTTCTCCGAAAATGTATG	0.328																																						uc002ylx.3		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)|central_nervous_system(1)	2						c.(742-744)CGA>CAA		GA binding protein transcription factor, alpha							41.0	41.0	41.0					21																	27130510		2203	4300	6503	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27130510G>A		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.743G>A	21.37:g.27130510G>A	ENSP00000346886:p.Arg248Gln					GABPA_uc002yly.3_Missense_Mutation_p.R248Q	p.R248Q	NM_002040	NP_002031	Q06546	GABPA_HUMAN			6	1270	+			248			PNT.		Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.743G>A	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094331	0.94149	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.33865	1.39;1.39	5.16	5.16	0.70880	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.112075	0.64402	D	0.000009	T	0.51278	0.1665	L	0.37697	1.125	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.46331	-0.9199	10	0.46703	T	0.11	.	18.4258	0.90608	0.0:0.0:1.0:0.0	.	248	Q06546	GABPA_HUMAN	Q	248	ENSP00000346886:R248Q;ENSP00000382948:R248Q	ENSP00000346886:R248Q	R	+	2	0	GABPA	26052381	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.160000	0.94734	2.693000	0.91896	0.313000	0.20887	CGA		0.328	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		13	28	0	0	0	0	13	28				
ADAMTS5	11096	broad.mit.edu	37	21	28338237	28338237	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr21:28338237G>A	ENST00000284987.5	-	1	595	c.474C>T	c.(472-474)gtC>gtT	p.V158V		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	158					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCGCGTGCTTGACCGCGAAGA	0.657																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(472-474)GTC>GTT		ADAM metallopeptidase with thrombospondin type 1							26.0	26.0	26.0					21																	28338237		2202	4294	6496	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338237G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.474C>T	21.37:g.28338237G>A							p.V158V	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			1	1203	-			158					Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.474C>T	CCDS13579.1																																																																																				0.657	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			7	26	0	0	0	0	7	26				
WRB	7485	broad.mit.edu	37	21	40762689	40762689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr21:40762689G>A	ENST00000333781.5	+	2	309	c.168G>A	c.(166-168)atG>atA	p.M56I	WRB_ENST00000466787.1_3'UTR|WRB_ENST00000398753.1_Missense_Mutation_p.M22I|WRB_ENST00000380708.1_Missense_Mutation_p.M22I|WRB_ENST00000541890.1_Missense_Mutation_p.M56I	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	56	Interaction with ASNA1/TRC40.				tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(3)	3		Prostate(19;1.2e-06)				TCCAGGACATGAAGCAGGAGC	0.542																																						uc002yxs.2		NA																	0					0						c.(166-168)ATG>ATA		tryptophan rich basic protein isoform 1							160.0	112.0	129.0					21																	40762689		2203	4300	6503	SO:0001583	missense	7485					integral to membrane|nucleolus		g.chr21:40762689G>A		CCDS13664.1, CCDS54485.1	21q22.3	2007-10-04			ENSG00000182093	ENSG00000182093			12790	protein-coding gene	gene with protein product		602915				9544840	Standard	NM_004627		Approved	CHD5	uc002yxs.3	O00258	OTTHUMG00000066250	ENST00000333781.5:c.168G>A	21.37:g.40762689G>A	ENSP00000327716:p.Met56Ile					WRB_uc011aeo.1_RNA|WRB_uc011aep.1_Missense_Mutation_p.M56I|WRB_uc002yxt.3_Missense_Mutation_p.M22I|WRB_uc010goj.2_RNA	p.M56I	NM_004627	NP_004618	O00258	WRB_HUMAN			2	266	+		Prostate(19;1.2e-06)	56			Potential.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000333781.5	37	c.168G>A	CCDS13664.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298586	0.81025	.	.	ENSG00000182093	ENST00000333781;ENST00000541890;ENST00000398753;ENST00000442773;ENST00000380713;ENST00000380708	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.2	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	M	0.73962	2.25	0.80722	D	1	D;P	0.63880	0.993;0.922	D;P	0.63033	0.91;0.525	T	0.58014	-0.7711	10	0.21540	T	0.41	-39.8245	13.7872	0.63117	0.0743:0.0:0.9257:0.0	.	56;56	B4DRG4;O00258	.;WRB_HUMAN	I	56;56;22;22;22;22	ENSP00000327716:M56I;ENSP00000445363:M56I;ENSP00000381737:M22I;ENSP00000370089:M22I;ENSP00000370084:M22I	ENSP00000327716:M56I	M	+	3	0	WRB	39684559	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	9.590000	0.98238	1.321000	0.45227	0.563000	0.77884	ATG		0.542	WRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141745.3			4	28	0	0	0	0	4	28				
SLC19A1	6573	broad.mit.edu	37	21	46951984	46951984	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr21:46951984G>A	ENST00000311124.4	-	3	420	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	SLC19A1_ENST00000485649.2_Silent_p.L50L|SLC19A1_ENST00000567670.1_Silent_p.L90L|SLC19A1_ENST00000380010.4_Silent_p.L90L	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	90					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GTGTAGCGCAGGTAGTCGGTG	0.672																																						uc002zhl.1		NA																	0					0						c.(268-270)CTG>TTG		solute carrier family 19 member 1							61.0	53.0	55.0					21																	46951984		2202	4300	6502	SO:0001819	synonymous_variant	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951984G>A	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.268C>T	21.37:g.46951984G>A						SLC19A1_uc010gpy.1_Silent_p.L90L|SLC19A1_uc011aft.1_Silent_p.L50L|SLC19A1_uc002zhm.1_Silent_p.L90L|SLC19A1_uc010gpz.1_5'UTR	p.L90L	NM_194255	NP_919231	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	387	-			90			Cytoplasmic (Probable).		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	c.268C>T	CCDS13725.1																																																																																				0.672	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			16	28	0	0	0	0	16	28				
DGCR2	9993	broad.mit.edu	37	22	19076905	19076905	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:19076905C>T	ENST00000263196.7	-	2	425	c.178G>A	c.(178-180)Gag>Aag	p.E60K	DGCR2_ENST00000545799.1_Missense_Mutation_p.E60K|DGCR2_ENST00000537045.1_Intron	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	60	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					TCGTCGCTCTCATCCTCGCAA	0.607																																						uc002zoq.1		NA																	0				large_intestine(1)	1						c.(178-180)GAG>AAG		integral membrane protein DGCR2 precursor							111.0	82.0	92.0					22																	19076905		2203	4300	6503	SO:0001583	missense	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19076905C>T	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.178G>A	22.37:g.19076905C>T	ENSP00000263196:p.Glu60Lys					DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Intron	p.E60K	NM_005137	NP_005128	P98153	IDD_HUMAN			2	426	-	Colorectal(54;0.0993)		60			Extracellular (Potential).|LDL-receptor class A.		A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	c.178G>A	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	C	6.822	0.520848	0.13005	.	.	ENSG00000070413	ENST00000263196;ENST00000545799;ENST00000447928	D;D	0.95272	-3.66;-3.66	4.82	0.858	0.19030	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.267510	0.42821	N	0.000653	D	0.83161	0.5194	N	0.11427	0.14	0.33352	D	0.571251	B	0.02656	0.0	B	0.13407	0.009	T	0.72367	-0.4315	10	0.11182	T	0.66	.	5.9614	0.19301	0.0:0.637:0.1475:0.2156	.	60	P98153	IDD_HUMAN	K	60	ENSP00000263196:E60K;ENSP00000445069:E60K	ENSP00000263196:E60K	E	-	1	0	DGCR2	17456905	1.000000	0.71417	0.994000	0.49952	0.430000	0.31655	2.162000	0.42367	0.062000	0.16340	0.655000	0.94253	GAG		0.607	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		14	123	0	0	0	0	14	123				
CLTCL1	8218	broad.mit.edu	37	22	19183840	19183840	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:19183840G>A	ENST00000263200.10	-	26	4200	c.4128C>T	c.(4126-4128)ctC>ctT	p.L1376L	CLTCL1_ENST00000427926.1_Silent_p.L1376L|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Silent_p.L1376L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1376	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCATCATGGTGAGCACAGCAT	0.567			T	?	ALCL																																	uc002zpb.2		NA		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				ovary(4)|central_nervous_system(1)	5						c.(4126-4128)CTC>CTT		clathrin, heavy polypeptide-like 1 isoform 1							93.0	95.0	95.0					22																	19183840		2138	4250	6388	SO:0001819	synonymous_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19183840G>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4128C>T	22.37:g.19183840G>A						CLTCL1_uc011agv.1_Silent_p.L1376L|CLTCL1_uc011agw.1_Silent_p.L1355L|CLTCL1_uc011agt.1_Silent_p.L167L|CLTCL1_uc011agu.1_Silent_p.L167L|CLTCL1_uc010grm.1_Silent_p.L136L|CLTCL1_uc002zpe.2_3'UTR|CLTCL1_uc002zpd.1_Silent_p.L283L	p.L1376L	NM_007098	NP_009029	P53675	CLH2_HUMAN			27	4203	-	Colorectal(54;0.0993)		1376			Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm.		B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	c.4128C>T	CCDS46662.1																																																																																				0.567	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		8	72	0	0	0	0	8	72				
CLTCL1	8218	broad.mit.edu	37	22	19209480	19209480	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:19209480C>G	ENST00000263200.10	-	16	2627	c.2555G>C	c.(2554-2556)aGa>aCa	p.R852T	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R852T|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R852T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	852	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTACCTATTTCTTTTTTCTAC	0.418			T	?	ALCL																																	uc002zpb.2		NA		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				ovary(4)|central_nervous_system(1)	5						c.(2554-2556)AGA>ACA		clathrin, heavy polypeptide-like 1 isoform 1							109.0	113.0	112.0					22																	19209480		1943	4119	6062	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19209480C>G		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2555G>C	22.37:g.19209480C>G	ENSP00000445677:p.Arg852Thr					CLTCL1_uc011agv.1_Missense_Mutation_p.R852T|CLTCL1_uc011agw.1_Missense_Mutation_p.R852T	p.R852T	NM_007098	NP_009029	P53675	CLH2_HUMAN			16	2630	-	Colorectal(54;0.0993)		852			Proximal segment.|Heavy chain arm.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.2555G>C	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459640	0.84317	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.20332	2.08;2.08;2.08	4.0	4.0	0.46444	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	M	0.91768	3.24	0.80722	D	1	D;D	0.60160	0.987;0.971	D;D	0.66084	0.937;0.941	T	0.67484	-0.5659	10	0.66056	D	0.02	-10.7729	16.2854	0.82717	0.0:1.0:0.0:0.0	.	852;852	P53675-2;P53675	.;CLH2_HUMAN	T	852	ENSP00000439662:R852T;ENSP00000445677:R852T;ENSP00000441158:R852T	ENSP00000445677:R852T	R	-	2	0	CLTCL1	17589480	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.923000	0.75817	2.071000	0.62044	0.563000	0.77884	AGA		0.418	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		7	106	0	0	0	0	7	106				
TBX1	6899	broad.mit.edu	37	22	19766783	19766783	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:19766783G>A	ENST00000329705.7	+	9	1179	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	350			T -> M (in dbSNP:rs4819522).		angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				AAGCTGAGACGTCTAGGAACA	0.547																																						uc002zqb.2		NA																	0				ovary(1)|breast(1)	2						c.(1048-1050)ACG>ACA		T-box 1 isoform A							94.0	79.0	84.0					22																	19766783		2203	4300	6503	SO:0001819	synonymous_variant	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19766783G>A	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.1050G>A	22.37:g.19766783G>A						TBX1_uc002zqc.2_Intron	p.T350T	NM_080646	NP_542377	O43435	TBX1_HUMAN			9	1179	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	350					C6G493|C6G494|O43436|Q96RJ2	Silent	SNP	ENST00000329705.7	37	c.1050G>A	CCDS13766.1																																																																																				0.547	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		23	137	0	0	0	0	23	137				
PI4KA	5297	broad.mit.edu	37	22	21157491	21157491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:21157491G>A	ENST00000572273.1	-	13	1635	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	PI4KA_ENST00000255882.6_Nonsense_Mutation_p.Q527*			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	469					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GTGTGGTACTGACTGTGGTAC	0.547																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3		NA																	0				lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(1405-1407)CAG>TAG		phosphatidylinositol 4-kinase type 3 alpha							169.0	127.0	141.0					22																	21157491		2203	4300	6503	SO:0001587	stop_gained	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21157491G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1405C>T	22.37:g.21157491G>A	ENSP00000458238:p.Gln469*					PI4KA_uc010gsq.1_Nonsense_Mutation_p.Q527*	p.Q469*	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		13	1636	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	469					Q7Z625|Q9UPG2	Nonsense_Mutation	SNP	ENST00000572273.1	37	c.1405C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.169742	0.98688	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.89	4.89	0.63831	.	0.116909	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-23.8069	18.2178	0.89892	0.0:0.0:1.0:0.0	.	.	.	.	X	469	.	ENSP00000255882:Q469X	Q	-	1	0	PI4KA	19487491	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.502000	0.97981	2.533000	0.85409	0.491000	0.48974	CAG		0.547	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		14	158	0	0	0	0	14	158				
P2RX6	9127	broad.mit.edu	37	22	21377467	21377467	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:21377467C>T	ENST00000413302.2	+	6	766	c.618C>T	c.(616-618)ttC>ttT	p.F206F	P2RX6_ENST00000443995.3_Silent_p.F153F|P2RX6_ENST00000336296.2_Silent_p.F196F|P2RX6_ENST00000401443.1_Silent_p.F180F|P2RX6_ENST00000402329.3_3'UTR			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	206					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										CAGTCACCTTCAGCAAGTTCA	0.572																																						uc010gsu.1		NA																	0					0						c.(616-618)TTC>TTT		purinergic receptor P2X6 isoform 1							119.0	110.0	113.0					22																	21377467		2203	4300	6503	SO:0001819	synonymous_variant	9127				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr22:21377467C>T		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.618C>T	22.37:g.21377467C>T						P2RX6_uc002ztz.2_Silent_p.F180F|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA	p.F206F	NM_005446	NP_005437	O15547	P2RX6_HUMAN			6	618	+			206			Extracellular (Potential).		F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Silent	SNP	ENST00000413302.2	37	c.618C>T	CCDS13788.2																																																																																				0.572	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	NM_005446		11	283	0	0	0	0	11	283				
MYO18B	84700	broad.mit.edu	37	22	26343755	26343755	+	Silent	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:26343755G>C	ENST00000407587.2	+	36	5881	c.5712G>C	c.(5710-5712)ctG>ctC	p.L1904L	MYO18B_ENST00000536101.1_Silent_p.L1903L|MYO18B_ENST00000335473.7_Silent_p.L1903L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1903	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGATGACCTGAATGAGCTGA	0.557																																						uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(5707-5709)CTG>CTC		myosin XVIIIB							74.0	75.0	74.0					22																	26343755		2080	4222	6302	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26343755G>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5712G>C	22.37:g.26343755G>C						MYO18B_uc003aca.1_Silent_p.L1784L|MYO18B_uc010guy.1_Silent_p.L1785L|MYO18B_uc010guz.1_Silent_p.L1783L|MYO18B_uc011aka.1_Silent_p.L1057L|MYO18B_uc011akb.1_Silent_p.L1416L	p.L1903L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			36	5959	+			1903			Tail.|Potential.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.5709G>C																																																																																					0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		9	18	0	0	0	0	9	18				
CRYBA4	1413	broad.mit.edu	37	22	27026341	27026341	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:27026341C>T	ENST00000354760.3	+	6	516	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	161	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CCGAGGATTTCAGTATGTGCT	0.537																																						uc003acz.3		NA																	0					0						c.(481-483)CAG>TAG		crystallin, beta A4							127.0	100.0	109.0					22																	27026341		2203	4300	6503	SO:0001587	stop_gained	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27026341C>T		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.481C>T	22.37:g.27026341C>T	ENSP00000346805:p.Gln161*						p.Q161*	NM_001886	NP_001877	P53673	CRBA4_HUMAN			6	516	+			161			Beta/gamma crystallin 'Greek key' 4.		Q4VB22|Q6ICE4	Nonsense_Mutation	SNP	ENST00000354760.3	37	c.481C>T	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543326	0.45280	.	.	ENSG00000196431	ENST00000354760	.	.	.	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.5738	0.68232	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000346805:Q161X	Q	+	1	0	CRYBA4	25356341	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	6.555000	0.73928	2.299000	0.77371	0.555000	0.69702	CAG		0.537	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		12	35	0	0	0	0	12	35				
TCN2	6948	broad.mit.edu	37	22	31010483	31010483	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:31010483C>T	ENST00000215838.3	+	4	1069	c.575C>T	c.(574-576)tCt>tTt	p.S192F	TCN2_ENST00000405742.3_Missense_Mutation_p.S188F|TCN2_ENST00000407817.3_Missense_Mutation_p.S165F			P20062	TCO2_HUMAN	transcobalamin II	192	Cobalamin binding.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCCACCATTCTGTGGGTGAG	0.602																																						uc003aip.1		NA																	0				central_nervous_system(1)	1						c.(574-576)TCT>TTT		transcobalamin II precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						100.0	71.0	81.0					22																	31010483		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31010483C>T		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.575C>T	22.37:g.31010483C>T	ENSP00000215838:p.Ser192Phe					TCN2_uc003aiq.1_Missense_Mutation_p.S188F|TCN2_uc003air.1_Missense_Mutation_p.S165F	p.S192F	NM_000355	NP_000346	P20062	TCO2_HUMAN			4	733	+			192			Cobalamin binding.		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.575C>T	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657708	0.47467	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.15487	2.42;2.42;2.42	5.37	4.32	0.51571	.	0.319678	0.37761	N	0.001947	T	0.42854	0.1221	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.961;0.961	T	0.37776	-0.9691	10	0.56958	D	0.05	-6.7585	13.4271	0.61032	0.0:0.8434:0.1566:0.0	.	165;188;192	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	F	192;188;165	ENSP00000215838:S192F;ENSP00000385914:S188F;ENSP00000384914:S165F	ENSP00000215838:S192F	S	+	2	0	TCN2	29340483	0.994000	0.37717	0.995000	0.50966	0.191000	0.23601	2.875000	0.48491	2.532000	0.85374	0.555000	0.69702	TCT		0.602	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		9	17	0	0	0	0	9	17				
FOXRED2	80020	broad.mit.edu	37	22	36886209	36886209	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:36886209T>C	ENST00000397224.4	-	9	1994	c.1901A>G	c.(1900-1902)cAc>cGc	p.H634R	FOXRED2_ENST00000397223.4_Missense_Mutation_p.H634R|FOXRED2_ENST00000216187.6_Missense_Mutation_p.H634R|FOXRED2_ENST00000366463.3_Missense_Mutation_p.H186R	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	634					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						CTCCACTCTGTGCTGCCAAAG	0.637																																						uc003apn.3		NA																	0				lung(1)|kidney(1)	2						c.(1900-1902)CAC>CGC		FAD-dependent oxidoreductase domain containing 2							77.0	80.0	79.0					22																	36886209		2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36886209T>C	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.1901A>G	22.37:g.36886209T>C	ENSP00000380401:p.His634Arg					FOXRED2_uc003apm.3_Missense_Mutation_p.H186R|FOXRED2_uc003apo.3_Missense_Mutation_p.H634R|FOXRED2_uc003app.3_Missense_Mutation_p.H634R	p.H634R	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN			8	2009	-			634					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.1901A>G	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.756629	0.49362	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	T;T;T;T	0.46451	2.47;2.47;0.87;2.47	5.42	4.39	0.52855	.	0.103284	0.64402	D	0.000005	T	0.41396	0.1157	M	0.75447	2.3	0.43499	D	0.995744	B	0.29909	0.261	B	0.20184	0.028	T	0.35847	-0.9772	10	0.59425	D	0.04	-31.6498	10.8438	0.46730	0.0:0.0734:0.0:0.9266	.	634	Q8IWF2	FXRD2_HUMAN	R	634;634;186;634	ENSP00000380401:H634R;ENSP00000216187:H634R;ENSP00000382543:H186R;ENSP00000380400:H634R	ENSP00000216187:H634R	H	-	2	0	FOXRED2	35216155	0.990000	0.36364	0.847000	0.33407	0.949000	0.60115	2.185000	0.42584	0.926000	0.37118	0.524000	0.50904	CAC		0.637	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		12	100	0	0	0	0	12	100				
MKL1	57591	broad.mit.edu	37	22	40825650	40825650	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:40825650G>T	ENST00000355630.3	-	7	851	c.261C>A	c.(259-261)aaC>aaA	p.N87K	MKL1_ENST00000402630.1_Missense_Mutation_p.N87K|MKL1_ENST00000396617.3_Missense_Mutation_p.N87K|MKL1_ENST00000407029.1_Missense_Mutation_p.N87K|MKL1_ENST00000402042.1_Missense_Mutation_p.N87K	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	87	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				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						CAGGAAGGATGTTCTTCTCCA	0.577			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.(259-261)AAC>AAA		megakaryoblastic leukemia 1 protein							120.0	105.0	111.0					22																	40825650		2203	4300	6503	SO:0001583	missense	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.chr22:40825650G>T	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.261C>A	22.37:g.40825650G>T	ENSP00000347847:p.Asn87Lys					MKL1_uc003ayw.1_Missense_Mutation_p.N87K|MKL1_uc010gye.1_Missense_Mutation_p.N87K|MKL1_uc010gyf.1_Missense_Mutation_p.N87K	p.N87K	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			4	468	-			87			RPEL 2.|Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.261C>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160330	0.78226	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029;ENST00000402630	D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32	5.25	0.772	0.18510	.	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.996;0.996	D	0.98091	1.0409	10	0.56958	D	0.05	-38.6705	10.8002	0.46485	0.3488:0.0:0.6512:0.0	.	87;87;87	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	K	87	ENSP00000347847:N87K;ENSP00000379861:N87K;ENSP00000385584:N87K;ENSP00000385835:N87K;ENSP00000385076:N87K	ENSP00000347847:N87K	N	-	3	2	MKL1	39155596	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.013000	0.29937	0.311000	0.23014	0.467000	0.42956	AAC		0.577	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		35	14	1	0	2e-19	3.45e-19	35	14				
PLXNB2	23654	broad.mit.edu	37	22	50721260	50721260	+	Missense_Mutation	SNP	C	C	T	rs375999957		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:50721260C>T	ENST00000449103.1	-	18	3007	c.2867G>A	c.(2866-2868)cGg>cAg	p.R956Q	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R956Q|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	956	IPT/TIG 2.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATCTGGCCCCGTGTCGCCTG	0.672																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2866-2868)CGG>CAG		plexin B2 precursor		C	GLN/ARG	0,3780		0,0,1890	25.0	30.0	28.0		2867	-3.0	0.0	22		28	1,8201		0,1,4100	no	missense	PLXNB2	NM_012401.3	43	0,1,5990	TT,TC,CC		0.0122,0.0,0.0083	benign	956/1839	50721260	1,11981	1890	4101	5991	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50721260C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2867G>A	22.37:g.50721260C>T	ENSP00000409171:p.Arg956Gln					PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	p.R956Q	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	18	2973	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	956			Extracellular (Potential).|IPT/TIG 2.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.2867G>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	6.991	0.552885	0.13374	0.0	1.22E-4	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000427829	T;T	0.58358	0.34;0.34	3.72	-2.99	0.05497	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.932780	0.02755	N	0.117909	T	0.28665	0.0710	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.12041	-1.0563	10	0.13853	T	0.58	.	5.9198	0.19076	0.3998:0.1617:0.4385:0.0	.	956	O15031	PLXB2_HUMAN	Q	956;956;17	ENSP00000409171:R956Q;ENSP00000352288:R956Q	ENSP00000352288:R956Q	R	-	2	0	PLXNB2	49063387	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.138000	0.16016	-1.035000	0.03291	-0.500000	0.04577	CGG		0.672	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		4	28	0	0	0	0	4	28				
LRRN1	57633	broad.mit.edu	37	3	3888390	3888390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:3888390G>T	ENST00000319331.3	+	2	2826	c.2065G>T	c.(2065-2067)Gaa>Taa	p.E689*	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	689						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TAACCTCTGGGAAGGTGACAG	0.413																																						uc003bpt.3		NA																	0				central_nervous_system(1)	1						c.(2065-2067)GAA>TAA		leucine rich repeat neuronal 1 precursor							52.0	55.0	54.0					3																	3888390		2203	4300	6503	SO:0001587	stop_gained	57633					integral to membrane		g.chr3:3888390G>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.2065G>T	3.37:g.3888390G>T	ENSP00000314901:p.Glu689*					SUMF1_uc003bps.1_Intron	p.E689*	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2826	+			689			Cytoplasmic (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Nonsense_Mutation	SNP	ENST00000319331.3	37	c.2065G>T	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	44	10.988532	0.99499	.	.	ENSG00000175928	ENST00000319331	.	.	.	5.71	5.71	0.89125	.	0.095973	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.8772	0.96880	0.0:0.0:1.0:0.0	.	.	.	.	X	689	.	ENSP00000314901:E689X	E	+	1	0	LRRN1	3863390	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.787000	0.99055	2.686000	0.91538	0.650000	0.86243	GAA		0.413	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		19	9	1	0	2.35e-11	4e-11	19	9				
HACL1	26061	broad.mit.edu	37	3	15609959	15609959	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:15609959C>T	ENST00000321169.5	-	13	1597	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	HACL1_ENST00000451445.2_Silent_p.Q328Q|HACL1_ENST00000457447.2_Silent_p.Q350Q|HACL1_ENST00000456194.2_Silent_p.Q383Q|HACL1_ENST00000435217.2_Silent_p.Q169Q	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	410	Thiamine pyrophosphate binding.				cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						GAAGGTAGTTCTGAAGCACAG	0.368																																						uc003caf.2		NA																	0					0						c.(1228-1230)CAG>CAA		2-hydroxyphytanoyl-CoA lyase							186.0	162.0	170.0					3																	15609959		2203	4300	6503	SO:0001819	synonymous_variant	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15609959C>T	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.1230G>A	3.37:g.15609959C>T						HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Silent_p.Q383Q|HACL1_uc011avt.1_Silent_p.Q350Q|HACL1_uc003cag.2_Silent_p.Q54Q|HACL1_uc011avu.1_Silent_p.Q328Q|HACL1_uc010hep.2_Silent_p.Q169Q	p.Q410Q	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN			13	1390	-			410			Thiamine pyrophosphate binding.		B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Silent	SNP	ENST00000321169.5	37	c.1230G>A	CCDS2627.1																																																																																				0.368	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260		5	40	0	0	0	0	5	40				
TGFBR2	7048	broad.mit.edu	37	3	30713698	30713698	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:30713698C>T	ENST00000295754.5	+	4	1405	c.1023C>T	c.(1021-1023)gtC>gtT	p.V341V	TGFBR2_ENST00000359013.4_Silent_p.V366V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	341	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CGCGGCATGTCATCAGCTGGG	0.617																																						uc003ceo.2		NA																	0				pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(1021-1023)GTC>GTT		transforming growth factor, beta receptor II							114.0	103.0	107.0					3																	30713698		2203	4300	6503	SO:0001819	synonymous_variant	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713698C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1023C>T	3.37:g.30713698C>T						TGFBR2_uc003cen.2_Silent_p.V366V	p.V341V	NM_003242	NP_003233	P37173	TGFR2_HUMAN			4	1405	+			341			Protein kinase.|Cytoplasmic (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP	ENST00000295754.5	37	c.1023C>T	CCDS2648.1																																																																																				0.617	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			52	40	0	0	0	0	52	40				
MLH1	4292	broad.mit.edu	37	3	37048548	37048548	+	Silent	SNP	G	G	A	rs63750638		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:37048548G>A	ENST00000231790.2	+	5	663	c.447G>A	c.(445-447)caG>caA	p.Q149Q	MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000435176.1_Silent_p.Q51Q|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000455445.2_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	149					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AAGGGACCCAGATCACGGTAA	0.343		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						c.(445-447)CAG>CAA	MMR	MutL protein homolog 1							74.0	79.0	78.0					3																	37048548		2203	4300	6503	SO:0001819	synonymous_variant	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37048548G>A	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.447G>A	3.37:g.37048548G>A						MLH1_uc011aye.1_5'UTR|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Silent_p.Q149Q|MLH1_uc003cgn.3_5'UTR|MLH1_uc011ayc.1_Silent_p.Q51Q|MLH1_uc011ayd.1_5'UTR|MLH1_uc003cgo.2_5'UTR	p.Q149Q	NM_000249	NP_000240	P40692	MLH1_HUMAN			5	507	+			149					B4DI13|B4DQ11|E9PCU2	Silent	SNP	ENST00000231790.2	37	c.447G>A	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	G	9.692	1.152180	0.21371	.	.	ENSG00000076242	ENST00000383761;ENST00000456676	.	.	.	6.16	4.39	0.52855	.	.	.	.	.	T	0.70404	0.3220	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70846	-0.4761	5	0.52906	T	0.07	-11.195	12.1423	0.54005	0.1397:0.0:0.8603:0.0	.	.	.	.	K	14;141	.	ENSP00000373270:R14K	R	+	2	0	MLH1	37023552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.326000	0.52037	0.944000	0.37579	0.650000	0.86243	AGA		0.343	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		22	15	0	0	0	0	22	15				
DLEC1	9940	broad.mit.edu	37	3	38081086	38081086	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:38081086G>A	ENST00000308059.6	+	1	391	c.370G>A	c.(370-372)Gag>Aag	p.E124K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E124K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E124K					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCGCGGCAGCGAGAATGAGCG	0.647																																						uc003cho.1		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(370-372)GAG>AAG		deleted in lung and esophageal cancer 1 isoform							44.0	47.0	46.0					3																	38081086		2123	4233	6356	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38081086G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.370G>A	3.37:g.38081086G>A	ENSP00000308597:p.Glu124Lys					DLEC1_uc003chp.1_Missense_Mutation_p.E124K|DLEC1_uc010hgv.1_Missense_Mutation_p.E124K	p.E124K	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	1	391	+			124						Missense_Mutation	SNP	ENST00000308059.6	37	c.370G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597300	0.46318	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06294	3.34;3.32;3.57	5.23	4.36	0.52297	.	0.744682	0.13266	N	0.400901	T	0.07188	0.0182	M	0.61703	1.905	0.29463	N	0.857611	P;P;P	0.49358	0.923;0.923;0.923	B;B;B	0.34138	0.176;0.124;0.176	T	0.17107	-1.0380	10	0.37606	T	0.19	-4.6711	9.9722	0.41761	0.0952:0.0:0.9048:0.0	.	124;124;124	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	K	124	ENSP00000308597:E124K;ENSP00000315914:E124K;ENSP00000410427:E124K	ENSP00000308597:E124K	E	+	1	0	DLEC1	38056090	1.000000	0.71417	0.897000	0.35233	0.146000	0.21551	3.569000	0.53827	1.344000	0.45657	0.436000	0.28706	GAG		0.647	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		23	39	0	0	0	0	23	39				
TTC21A	199223	broad.mit.edu	37	3	39156090	39156090	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:39156090G>A	ENST00000431162.2	+	6	707	c.573G>A	c.(571-573)atG>atA	p.M191I	TTC21A_ENST00000301819.6_Missense_Mutation_p.M191I|TTC21A_ENST00000440121.1_Missense_Mutation_p.M150I			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	191										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTACTTCATGATGCAGCAGA	0.557																																						uc003cjc.2		NA																	0				ovary(1)	1						c.(571-573)ATG>ATA		tetratricopeptide repeat domain 21A isoform 2							159.0	153.0	155.0					3																	39156090		2002	4172	6174	SO:0001583	missense	199223						binding	g.chr3:39156090G>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.573G>A	3.37:g.39156090G>A	ENSP00000398211:p.Met191Ile					TTC21A_uc003cja.2_Missense_Mutation_p.M191I|TTC21A_uc010hho.1_Missense_Mutation_p.M113I|TTC21A_uc003cjb.2_Missense_Mutation_p.D58N|TTC21A_uc003cje.2_Missense_Mutation_p.M191I|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.M150I	p.M191I	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	6	750	+			191			TPR 4.		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.573G>A	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466455	0.63625	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.62232	0.04;0.04;1.36	5.0	5.0	0.66597	Tetratricopeptide-like helical (1);	0.117651	0.52532	D	0.000061	T	0.78381	0.4274	M	0.77820	2.39	0.33739	D	0.619239	B;D;D;D;D	0.67145	0.291;0.996;0.996;0.993;0.996	B;D;D;D;D	0.75484	0.091;0.986;0.986;0.968;0.986	T	0.81684	-0.0821	10	0.24483	T	0.36	-18.2671	17.078	0.86591	0.0:0.0:1.0:0.0	.	150;191;191;191;191	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;.;TT21A_HUMAN;.	I	191;191;191;150	ENSP00000301819:M191I;ENSP00000398211:M191I;ENSP00000410882:M150I	ENSP00000301819:M191I	M	+	3	0	TTC21A	39131094	1.000000	0.71417	0.298000	0.25002	0.852000	0.48524	4.759000	0.62227	2.316000	0.78162	0.561000	0.74099	ATG		0.557	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		62	57	0	0	0	0	62	57				
ALS2CL	259173	broad.mit.edu	37	3	46713495	46713495	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:46713495C>G	ENST00000318962.4	-	24	2646	c.2563G>C	c.(2563-2565)Gag>Cag	p.E855Q	ALS2CL_ENST00000383742.3_Missense_Mutation_p.E202Q|ALS2CL_ENST00000415953.1_Missense_Mutation_p.E855Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	855	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TCCAGCACCTCCAGCTTCTCC	0.622																																						uc003cqa.1		NA																	0				breast(2)|central_nervous_system(2)|skin(1)	5						c.(2563-2565)GAG>CAG		ALS2 C-terminal like isoform 1							105.0	95.0	98.0					3																	46713495		2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46713495C>G	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2563G>C	3.37:g.46713495C>G	ENSP00000313670:p.Glu855Gln					ALS2CL_uc003cpx.1_Missense_Mutation_p.E202Q|ALS2CL_uc003cpy.1_RNA|ALS2CL_uc003cpz.1_Missense_Mutation_p.E370Q|ALS2CL_uc003cqb.1_Missense_Mutation_p.E855Q|ALS2CL_uc003cqc.1_RNA	p.E855Q	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	24	2753	-			855			VPS9.		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.2563G>C	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810393	0.32053	.	.	ENSG00000178038	ENST00000318962;ENST00000415953;ENST00000383742	T;T;T	0.30182	1.54;1.54;1.54	5.29	2.36	0.29203	Vacuolar sorting protein 9 (2);	0.335552	0.23856	N	0.043881	T	0.15262	0.0368	N	0.04880	-0.145	0.29239	N	0.87279	B	0.28233	0.204	B	0.27170	0.077	T	0.12502	-1.0545	10	0.18710	T	0.47	.	14.4922	0.67660	0.0:0.5797:0.4203:0.0	.	855	Q60I27	AL2CL_HUMAN	Q	855;855;202	ENSP00000313670:E855Q;ENSP00000413223:E855Q;ENSP00000373248:E202Q	ENSP00000313670:E855Q	E	-	1	0	ALS2CL	46688499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.781000	0.26774	0.168000	0.19655	0.650000	0.86243	GAG		0.622	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		3	50	0	0	0	0	3	50				
NBEAL2	23218	broad.mit.edu	37	3	47033992	47033992	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:47033992G>A	ENST00000450053.3	+	10	1239	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	NBEAL2_ENST00000292309.5_Missense_Mutation_p.E354K|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	354					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGCGCCCCCCGAGGGGGACAG	0.637																																						uc003cqp.2		NA																	0				ovary(1)	1						c.(1060-1062)GAG>AAG		neurobeachin-like 2							25.0	27.0	26.0					3																	47033992		1866	4088	5954	SO:0001583	missense	23218						binding	g.chr3:47033992G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1060G>A	3.37:g.47033992G>A	ENSP00000415034:p.Glu354Lys					NBEAL2_uc003cqq.1_Intron|NBEAL2_uc010hjm.1_5'Flank	p.E354K	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	10	1239	+		Acute lymphoblastic leukemia(5;0.0534)	354					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.1060G>A	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011463	0.75046	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.57436	0.4;0.4	5.24	5.24	0.73138	Armadillo-type fold (1);	.	.	.	.	T	0.41143	0.1146	L	0.35414	1.06	0.80722	D	1	D	0.52996	0.957	B	0.36464	0.225	T	0.51301	-0.8723	9	0.87932	D	0	.	16.3441	0.83117	0.0:0.0:1.0:0.0	.	354	Q6ZNJ1	NBEL2_HUMAN	K	354	ENSP00000292309:E354K;ENSP00000415034:E354K	ENSP00000292309:E354K	E	+	1	0	NBEAL2	47008996	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.737000	0.74816	2.456000	0.83038	0.643000	0.83706	GAG		0.637	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		5	4	0	0	0	0	5	4				
CCDC36	339834	broad.mit.edu	37	3	49294689	49294689	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:49294689G>C	ENST00000438782.1	+	8	1995	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H	CCDC36_ENST00000296449.5_Missense_Mutation_p.D587H|RP11-3B7.1_ENST00000440528.3_5'Flank|CCDC36_ENST00000452691.2_Missense_Mutation_p.D587H			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	587										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CCTGGGTTTTGATAGCAGTGA	0.478																																						uc003cwk.2		NA																	0				ovary(1)|kidney(1)	2						c.(1759-1761)GAT>CAT		coiled-coil domain containing 36							159.0	168.0	165.0					3																	49294689		2203	4300	6503	SO:0001583	missense	339834							g.chr3:49294689G>C	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.1759G>C	3.37:g.49294689G>C	ENSP00000391788:p.Asp587His					CCDC36_uc011bck.1_Missense_Mutation_p.D587H	p.D587H	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	10	2146	+			587					C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	ENST00000438782.1	37	c.1759G>C	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996710	0.54147	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.65549	-0.16;-0.16;-0.16	4.66	4.66	0.58398	.	0.336047	0.25628	N	0.029379	T	0.68988	0.3061	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71632	-0.4534	10	0.87932	D	0	-13.5463	13.2475	0.60031	0.0:0.0:1.0:0.0	.	587	Q8IYA8	CCD36_HUMAN	H	587;587;587;567	ENSP00000296449:D587H;ENSP00000391788:D587H;ENSP00000407837:D587H	ENSP00000296449:D587H	D	+	1	0	CCDC36	49269693	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.235000	0.58666	2.591000	0.87537	0.561000	0.74099	GAT		0.478	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		3	162	0	0	0	0	3	162				
RBM5	10181	broad.mit.edu	37	3	50151488	50151488	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:50151488G>C	ENST00000347869.3	+	19	1898	c.1723G>C	c.(1723-1725)Gaa>Caa	p.E575Q	RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	575	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGAAAGGAGAGAATCTGCTGC	0.423																																						uc003cyg.2		NA																	0				lung(1)	1						c.(1723-1725)GAA>CAA		RNA binding motif protein 5							61.0	66.0	64.0					3																	50151488		2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50151488G>C	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1723G>C	3.37:g.50151488G>C	ENSP00000343054:p.Glu575Gln					RBM5_uc011bdj.1_Missense_Mutation_p.E519Q|RBM5_uc011bdk.1_Missense_Mutation_p.E403Q|RBM5_uc003cyh.2_Missense_Mutation_p.E32Q	p.E575Q	NM_005778	NP_005769	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	19	1871	+			575			Required for interaction with U2AF2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.1723G>C	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	G	30	5.049684	0.93740	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.15256	2.44	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	L	0.28649	0.875	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.987;0.993	T	0.02683	-1.1124	10	0.15952	T	0.53	-18.4481	19.0045	0.92844	0.0:0.0:1.0:0.0	.	265;575	Q59HE6;P52756	.;RBM5_HUMAN	Q	575;574;265	ENSP00000343054:E575Q	ENSP00000343054:E575Q	E	+	1	0	RBM5	50126492	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.837000	0.99465	2.583000	0.87209	0.561000	0.74099	GAA		0.423	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		22	24	0	0	0	0	22	24				
GRM2	2912	broad.mit.edu	37	3	51749374	51749374	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:51749374G>C	ENST00000395052.3	+	4	1819	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	529					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCAGCCCTATGAGTACCGATT	0.612																																						uc010hlv.2		NA																	0				lung(1)	1						c.(1585-1587)GAG>CAG		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						39.0	34.0	36.0					3																	51749374		2203	4296	6499	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51749374G>C	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1585G>C	3.37:g.51749374G>C	ENSP00000378492:p.Glu529Gln					GRM2_uc003dbo.3_5'UTR|GRM2_uc010hlu.2_RNA	p.E529Q	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	1824	+			529			Extracellular (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.1585G>C	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	6.705	0.498808	0.12762	.	.	ENSG00000164082	ENST00000395052	D	0.90563	-2.69	5.17	5.17	0.71159	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.055265	0.64402	D	0.000001	D	0.86222	0.5881	N	0.10972	0.075	0.80722	D	1	P	0.39551	0.678	P	0.47075	0.536	D	0.84027	0.0357	10	0.19147	T	0.46	.	19.0567	0.93069	0.0:0.0:1.0:0.0	.	529	Q14416	GRM2_HUMAN	Q	529	ENSP00000378492:E529Q	ENSP00000378492:E529Q	E	+	1	0	GRM2	51724414	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	6.945000	0.75947	2.595000	0.87683	0.462000	0.41574	GAG		0.612	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			6	15	0	0	0	0	6	15				
SFMBT1	51460	broad.mit.edu	37	3	52947576	52947576	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:52947576G>C	ENST00000394752.3	-	15	1920	c.1538C>G	c.(1537-1539)tCa>tGa	p.S513*	SFMBT1_ENST00000296295.6_Nonsense_Mutation_p.S513*|SFMBT1_ENST00000358080.2_Nonsense_Mutation_p.S513*|SFMBT1_ENST00000394750.1_Nonsense_Mutation_p.S513*	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	513					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.S513*(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ATATGGCCCTGAGAAGCAACG	0.403																																						uc003dgf.2		NA																	1	Substitution - Nonsense(1)		breast(1)	ovary(1)	1						c.(1537-1539)TCA>TGA		Scm-like with four mbt domains 1							126.0	121.0	123.0					3																	52947576		2203	4300	6503	SO:0001587	stop_gained	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52947576G>C	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1538C>G	3.37:g.52947576G>C	ENSP00000378235:p.Ser513*					SFMBT1_uc010hmr.2_Nonsense_Mutation_p.S460*|SFMBT1_uc003dgg.2_Nonsense_Mutation_p.S513*|SFMBT1_uc003dgh.2_Nonsense_Mutation_p.S513*	p.S513*	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	16	2107	-			513					Q402F7|Q96C73|Q9Y4Q9	Nonsense_Mutation	SNP	ENST00000394752.3	37	c.1538C>G	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	43	9.962317	0.99305	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8467	0.92210	0.0:0.0:1.0:0.0	.	.	.	.	X	513	.	ENSP00000296295:S513X	S	-	2	0	SFMBT1	52922616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.563000	0.98148	2.691000	0.91804	0.462000	0.41574	TCA		0.403	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		13	11	0	0	0	0	13	11				
ERC2	26059	broad.mit.edu	37	3	55984515	55984515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:55984515G>A	ENST00000288221.6	-	13	2596	c.2341C>T	c.(2341-2343)Cag>Tag	p.Q781*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	781						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTAGTAACTGAGCATTTTTC	0.428																																						uc003dhr.1		NA																	0				ovary(2)	2						c.(2341-2343)CAG>TAG		cytomatrix protein p110							167.0	160.0	162.0					3																	55984515		1948	4150	6098	SO:0001587	stop_gained	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55984515G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2341C>T	3.37:g.55984515G>A	ENSP00000288221:p.Gln781*					ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Nonsense_Mutation_p.Q260*	p.Q781*	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	13	2597	-			781			Potential.		Q2T9F6|Q86TK4	Nonsense_Mutation	SNP	ENST00000288221.6	37	c.2341C>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	38	6.720810	0.97788	.	.	ENSG00000187672	ENST00000288221	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-25.9695	20.4043	0.99006	0.0:0.0:1.0:0.0	.	.	.	.	X	781	.	ENSP00000288221:Q781X	Q	-	1	0	ERC2	55959555	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.110000	0.94302	2.823000	0.97156	0.650000	0.86243	CAG		0.428	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		10	35	0	0	0	0	10	35				
COL8A1	1295	broad.mit.edu	37	3	99513335	99513335	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:99513335G>A	ENST00000261037.3	+	5	970	c.590G>A	c.(589-591)gGa>gAa	p.G197E	COL8A1_ENST00000273342.4_Missense_Mutation_p.G197E	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	197	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGACCACAAGGACCTCCAGGG	0.587																																						uc003dtg.1		NA																	0					0						c.(589-591)GGA>GAA		alpha 1 type VIII collagen precursor							49.0	52.0	51.0					3																	99513335		2203	4300	6503	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99513335G>A	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.590G>A	3.37:g.99513335G>A	ENSP00000261037:p.Gly197Glu					COL8A1_uc003dth.1_Missense_Mutation_p.G197E|COL8A1_uc003dti.1_Missense_Mutation_p.G198E	p.G197E	NM_001850	NP_001841	P27658	CO8A1_HUMAN			5	835	+			197			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.590G>A	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070138	0.55539	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.99353	-5.77;-5.77	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97184	0.9853	10	0.87932	D	0	.	16.5979	0.84801	0.0:0.0:1.0:0.0	.	198;197	E7EPK9;P27658	.;CO8A1_HUMAN	E	197	ENSP00000261037:G197E;ENSP00000273342:G197E	ENSP00000261037:G197E	G	+	2	0	COL8A1	100996025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.511000	0.84671	0.655000	0.94253	GGA		0.587	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		5	58	0	0	0	0	5	58				
BOC	91653	broad.mit.edu	37	3	112998239	112998239	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:112998239A>T	ENST00000495514.1	+	12	2661	c.1957A>T	c.(1957-1959)Att>Ttt	p.I653F	BOC_ENST00000273395.4_Missense_Mutation_p.I654F|BOC_ENST00000355385.3_Missense_Mutation_p.I653F			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	653	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGGAGACTGGATTCTGGCCAC	0.602																																						uc003dzx.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.(1957-1959)ATT>TTT		brother of CDO precursor							65.0	71.0	69.0					3																	112998239		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112998239A>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1957A>T	3.37:g.112998239A>T	ENSP00000418663:p.Ile653Phe					BOC_uc003dzy.2_Missense_Mutation_p.I653F|BOC_uc003dzz.2_Missense_Mutation_p.I654F|BOC_uc003eab.2_Missense_Mutation_p.I354F|BOC_uc003eac.2_5'Flank	p.I653F	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		12	2578	+			653			Fibronectin type-III 2.|Extracellular (Potential).		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.1957A>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.452408	0.63290	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57273	0.41;0.41;0.41	5.55	3.16	0.36331	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.319167	0.29145	N	0.013005	T	0.37376	0.1001	L	0.31065	0.9	0.43149	D	0.994916	B;B	0.34255	0.391;0.445	B;B	0.41466	0.244;0.358	T	0.11131	-1.0600	10	0.10636	T	0.68	.	4.5845	0.12275	0.6613:0.186:0.1527:0.0	.	654;653	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	F	653;654;653	ENSP00000418663:I653F;ENSP00000273395:I654F;ENSP00000347546:I653F	ENSP00000273395:I654F	I	+	1	0	BOC	114480929	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.225000	0.51246	0.908000	0.36671	0.460000	0.39030	ATT		0.602	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		9	47	0	0	0	0	9	47				
CD80	941	broad.mit.edu	37	3	119248769	119248769	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:119248769A>T	ENST00000264246.3	-	5	1078	c.716T>A	c.(715-717)tTt>tAt	p.F239Y	CD80_ENST00000383668.3_Intron|CD80_ENST00000478182.1_Missense_Mutation_p.F239Y|CD80_ENST00000383669.3_Intron	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	239					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	GTTATCAGGAAAATGCTCTTG	0.408																																					Melanoma(132;135 1764 1806 5833 14593)	uc003ecq.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(715-717)TTT>TAT		CD80 antigen precursor	Abatacept(DB01281)						118.0	110.0	112.0					3																	119248769		2203	4300	6503	SO:0001583	missense	941				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	g.chr3:119248769A>T		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.716T>A	3.37:g.119248769A>T	ENSP00000264246:p.Phe239Tyr					CD80_uc010hqt.1_Intron|CD80_uc010hqu.1_Intron	p.F239Y	NM_005191	NP_005182	P33681	CD80_HUMAN			5	1111	-			239			Extracellular (Potential).		Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	c.716T>A	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.835183	0.32421	.	.	ENSG00000121594	ENST00000264246;ENST00000478182	T;T	0.01446	4.88;4.88	4.83	0.595	0.17490	.	0.664448	0.12548	N	0.459282	T	0.00936	0.0031	N	0.14661	0.345	0.09310	N	1	P	0.36712	0.566	B	0.31191	0.125	T	0.47100	-0.9143	10	0.35671	T	0.21	-0.0028	0.861	0.01193	0.2245:0.1827:0.4056:0.1871	.	239	P33681	CD80_HUMAN	Y	239	ENSP00000264246:F239Y;ENSP00000418364:F239Y	ENSP00000264246:F239Y	F	-	2	0	CD80	120731459	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.380000	0.07427	-0.005000	0.14395	0.460000	0.39030	TTT		0.408	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		5	61	0	0	0	0	5	61				
NDUFB4	4710	broad.mit.edu	37	3	120315376	120315376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:120315376G>A	ENST00000184266.2	+	1	221	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	NDUFB4_ENST00000485064.1_Missense_Mutation_p.R57Q|NDUFB4_ENST00000492739.1_Missense_Mutation_p.R57Q	NM_004547.5	NP_004538.2	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	57					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)		CCCAACCGCCGAGGGCTCATC	0.632																																						uc003edu.2		NA																	0					0						c.(169-171)CGA>CAA		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						22.0	22.0	22.0					3																	120315376		2203	4296	6499	SO:0001583	missense	4710				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:120315376G>A	AF044957	CCDS2999.1, CCDS54630.1	3q13.33	2011-07-04	2002-08-29		ENSG00000065518	ENSG00000065518		"""Mitochondrial respiratory chain complex / Complex I"""	7699	protein-coding gene	gene with protein product	"""complex I B15 subunit"""	603840	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4 (15kD, B15)"""			9878551	Standard	NM_004547		Approved	B15	uc003edu.3	O95168	OTTHUMG00000159442	ENST00000184266.2:c.170G>A	3.37:g.120315376G>A	ENSP00000184266:p.Arg57Gln					NDUFB4_uc003edt.2_Missense_Mutation_p.R57Q	p.R57Q	NM_004547	NP_004538	O95168	NDUB4_HUMAN		GBM - Glioblastoma multiforme(114;0.14)	1	249	+			57					B2RUY3|B9EJC7	Missense_Mutation	SNP	ENST00000184266.2	37	c.170G>A	CCDS2999.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262948	0.39995	.	.	ENSG00000065518	ENST00000184266;ENST00000485064;ENST00000492739	.	.	.	5.69	0.829	0.18847	.	0.573380	0.17271	N	0.180388	T	0.16385	0.0394	N	0.13371	0.34	0.09310	N	1	B;B	0.21309	0.054;0.054	B;B	0.18871	0.013;0.023	T	0.20571	-1.0271	9	0.20519	T	0.43	-0.3098	4.2466	0.10674	0.3255:0.0:0.5253:0.1492	.	57;57	O95168;B2RUY3	NDUB4_HUMAN;.	Q	57	.	ENSP00000184266:R57Q	R	+	2	0	NDUFB4	121798066	0.000000	0.05858	0.032000	0.17829	0.783000	0.44284	-0.520000	0.06252	-0.129000	0.11620	0.655000	0.94253	CGA		0.632	NDUFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355420.1	NM_004547		4	17	0	0	0	0	4	17				
GOLGB1	2804	broad.mit.edu	37	3	121414936	121414936	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:121414936T>C	ENST00000340645.5	-	13	4544	c.4419A>G	c.(4417-4419)gaA>gaG	p.E1473E	GOLGB1_ENST00000393667.3_Silent_p.E1478E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1473					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCTACTTTCTTCTCCAATCT	0.393																																						uc003eei.3		NA																	0				ovary(6)|breast(2)|skin(2)	10						c.(4417-4419)GAA>GAG		golgi autoantigen, golgin subfamily b,							184.0	184.0	184.0					3																	121414936		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414936T>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4419A>G	3.37:g.121414936T>C						GOLGB1_uc010hrc.2_Silent_p.E1478E|GOLGB1_uc003eej.3_Silent_p.E1439E|GOLGB1_uc011bjm.1_Silent_p.E1359E|GOLGB1_uc010hrd.1_Silent_p.E1437E	p.E1473E	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	4545	-			1473			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.4419A>G	CCDS3004.1																																																																																				0.393	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		42	223	0	0	0	0	42	223				
SLC35G2	80723	broad.mit.edu	37	3	136573801	136573801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:136573801C>T	ENST00000446465.2	+	2	1127	c.499C>T	c.(499-501)Cga>Tga	p.R167*	RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Nonsense_Mutation_p.R167*|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		ATACAGATTACGACTCTTCTT	0.408																																						uc003erf.3		NA																	0				ovary(1)	1						c.(499-501)CGA>TGA		transmembrane protein 22							191.0	178.0	182.0					3																	136573801		2203	4300	6503	SO:0001587	stop_gained	80723					Golgi apparatus|integral to membrane		g.chr3:136573801C>T	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.499C>T	3.37:g.136573801C>T	ENSP00000400839:p.Arg167*					TMEM22_uc003erg.3_Nonsense_Mutation_p.R167*|TMEM22_uc010hub.2_Nonsense_Mutation_p.R167*	p.R167*	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN			2	713	+			167			DUF6 1.			Nonsense_Mutation	SNP	ENST00000446465.2	37	c.499C>T	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181782	0.94885	.	.	ENSG00000168917	ENST00000446465;ENST00000393079	.	.	.	5.57	5.57	0.84162	.	0.056675	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	18.1182	0.89563	0.0:1.0:0.0:0.0	.	.	.	.	X	167	.	ENSP00000376794:R167X	R	+	1	2	TMEM22	138056491	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.638000	0.67861	2.623000	0.88846	0.591000	0.81541	CGA		0.408	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		34	160	0	0	0	0	34	160				
AGTR1	185	broad.mit.edu	37	3	148459339	148459339	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:148459339G>A	ENST00000497524.1	+	2	908	c.517G>A	c.(517-519)Gag>Aag	p.E173K	AGTR1_ENST00000461609.1_Missense_Mutation_p.E173K|AGTR1_ENST00000404754.2_Missense_Mutation_p.E173K|AGTR1_ENST00000542281.1_Missense_Mutation_p.E173K|AGTR1_ENST00000418473.2_Missense_Mutation_p.E173K|AGTR1_ENST00000349243.3_Missense_Mutation_p.E173K|AGTR1_ENST00000402260.1_Missense_Mutation_p.E173K|AGTR1_ENST00000474935.1_Missense_Mutation_p.E173K|AGTR1_ENST00000475347.1_Missense_Mutation_p.E173K	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	173					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATTTTTCATTGAGAACACCAA	0.443																																						uc003ewg.2		NA																	0					0						c.(517-519)GAG>AAG		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						88.0	88.0	88.0					3																	148459339		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459339G>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.517G>A	3.37:g.148459339G>A	ENSP00000419422:p.Glu173Lys					AGTR1_uc003ewh.2_Missense_Mutation_p.E173K|AGTR1_uc003ewi.2_Missense_Mutation_p.E173K|AGTR1_uc003ewj.2_Missense_Mutation_p.E173K|AGTR1_uc003ewk.2_Missense_Mutation_p.E173K	p.E173K	NM_031850	NP_114038	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	963	+			173			Extracellular (Potential).		Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.517G>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545356	0.45280	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.576047	0.18177	N	0.149272	T	0.26484	0.0647	N	0.12611	0.24	0.40511	D	0.980733	B	0.17852	0.024	B	0.25140	0.058	T	0.09662	-1.0664	10	0.20046	T	0.44	-17.2749	19.387	0.94560	0.0:0.0:1.0:0.0	.	173	P30556	AGTR1_HUMAN	K	173	ENSP00000419422:E173K;ENSP00000273430:E173K;ENSP00000443186:E173K;ENSP00000398832:E173K;ENSP00000385612:E173K;ENSP00000419783:E173K;ENSP00000418084:E173K;ENSP00000418851:E173K;ENSP00000385641:E173K	ENSP00000273430:E173K	E	+	1	0	AGTR1	149942029	0.998000	0.40836	0.999000	0.59377	0.996000	0.88848	3.738000	0.55067	2.572000	0.86782	0.655000	0.94253	GAG		0.443	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			25	85	0	0	0	0	25	85				
VEPH1	79674	broad.mit.edu	37	3	157146114	157146114	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:157146114G>A	ENST00000362010.2	-	5	1000	c.693C>T	c.(691-693)ctC>ctT	p.L231L	VEPH1_ENST00000543418.1_Silent_p.L231L|VEPH1_ENST00000392832.2_Silent_p.L231L|VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392833.2_Silent_p.L231L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	231						plasma membrane (GO:0005886)		p.L231L(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTTTTACCTCGAGTTGTTTTT	0.438																																						uc003fbj.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	breast(3)|ovary(1)|lung(1)	5						c.(691-693)CTC>CTT		ventricular zone expressed PH domain homolog 1							159.0	146.0	151.0					3																	157146114		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:157146114G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.693C>T	3.37:g.157146114G>A						VEPH1_uc003fbk.1_Silent_p.L231L|VEPH1_uc010hvu.1_Silent_p.L231L	p.L231L	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		5	1010	-			231					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.693C>T	CCDS3179.1																																																																																				0.438	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		6	69	0	0	0	0	6	69				
IFT80	57560	broad.mit.edu	37	3	160099354	160099354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:160099354G>A	ENST00000326448.7	-	3	628	c.196C>T	c.(196-198)Cca>Tca	p.P66S	RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	66					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAACTTTTTGGAAACCAGTGA	0.358																																						uc011boy.1		NA																	0				ovary(1)	1						c.(196-198)CCA>TCA		WD repeat domain 56							81.0	82.0	81.0					3																	160099354		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160099354G>A	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.196C>T	3.37:g.160099354G>A	ENSP00000312778:p.Pro66Ser					IFT80_uc003fda.2_Intron|IFT80_uc003fdb.1_5'UTR|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_5'UTR	p.P66S	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	629	-			66					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.196C>T	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936310	0.73442	.	.	ENSG00000068885	ENST00000326448;ENST00000498409;ENST00000489004	T;T;T	0.75821	1.16;-0.4;-0.97	5.86	4.99	0.66335	WD40 repeat-like-containing domain (1);	1.341630	0.06095	U	0.664284	D	0.89347	0.6689	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.80204	-0.1479	10	0.54805	T	0.06	.	15.2874	0.73838	0.0673:0.0:0.9327:0.0	.	66	Q9P2H3	IFT80_HUMAN	S	66	ENSP00000312778:P66S;ENSP00000420001:P66S;ENSP00000418455:P66S	ENSP00000312778:P66S	P	-	1	0	IFT80	161582048	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	7.636000	0.83301	1.495000	0.48549	-0.203000	0.12734	CCA		0.358	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		9	51	0	0	0	0	9	51				
ABCC5	10057	broad.mit.edu	37	3	183707045	183707045	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:183707045T>C	ENST00000334444.6	-	3	496	c.256A>G	c.(256-258)Agt>Ggt	p.S86G	ABCC5_ENST00000427120.2_Missense_Mutation_p.S86G|ABCC5_ENST00000392579.2_Missense_Mutation_p.S86G|ABCC5_ENST00000382494.2_Missense_Mutation_p.S86G|ABCC5_ENST00000265586.6_Missense_Mutation_p.S86G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	86					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TTCAGAGCACTCAAGCCATGA	0.478																																						uc003fmg.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(256-258)AGT>GGT		ATP-binding cassette, sub-family C, member 5							70.0	65.0	66.0					3																	183707045		2203	4300	6503	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183707045T>C	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.256A>G	3.37:g.183707045T>C	ENSP00000333926:p.Ser86Gly					ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.S86G|ABCC5_uc003fmh.2_Missense_Mutation_p.S86G|ABCC5_uc010hxm.2_RNA|ABCC5_uc010hxn.2_Missense_Mutation_p.S86G|ABCC5_uc010hxo.2_Missense_Mutation_p.S86G	p.S86G	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		3	421	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		86					B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.256A>G	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	T	10.98	1.504180	0.26949	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586;ENST00000427120;ENST00000392579;ENST00000382494;ENST00000437341	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.6	3.17	0.36434	.	0.427481	0.30752	N	0.008947	T	0.31263	0.0791	L	0.38531	1.155	0.09310	N	1	B;B;B;B;B	0.30236	0.274;0.274;0.0;0.274;0.0	B;B;B;B;B	0.30179	0.112;0.112;0.001;0.086;0.002	T	0.17684	-1.0361	10	0.39692	T	0.17	-1.3284	10.096	0.42475	0.0:0.1387:0.0:0.8613	.	86;86;86;86;86	A5PKY6;Q29ZA9;Q86UX3;Q86W30;O15440	.;.;.;.;MRP5_HUMAN	G	86;22;86;86;86;86;86	ENSP00000333926:S86G;ENSP00000265586:S86G;ENSP00000404809:S86G;ENSP00000376358:S86G;ENSP00000371934:S86G;ENSP00000399726:S86G	ENSP00000265586:S86G	S	-	1	0	ABCC5	185189739	0.305000	0.24481	0.222000	0.23844	0.447000	0.32167	2.707000	0.47143	0.959000	0.37980	0.533000	0.62120	AGT		0.478	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		28	17	0	0	0	0	28	17				
BOD1L1	259282	broad.mit.edu	37	4	13603813	13603813	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:13603813T>A	ENST00000040738.5	-	10	4846	c.4711A>T	c.(4711-4713)Aat>Tat	p.N1571Y		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1571						nucleus (GO:0005634)	DNA binding (GO:0003677)										AGAGGATTATTTCTGGAATGT	0.468																																						uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(4711-4713)AAT>TAT		biorientation of chromosomes in cell division							40.0	36.0	38.0					4																	13603813		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13603813T>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4711A>T	4.37:g.13603813T>A	ENSP00000040738:p.Asn1571Tyr					BOD1L_uc010idr.1_Missense_Mutation_p.N908Y	p.N1571Y	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	4828	-			1571					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.4711A>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	15.03	2.713367	0.48517	.	.	ENSG00000038219	ENST00000040738	T	0.07908	3.15	4.96	-2.35	0.06684	.	0.851079	0.10349	N	0.685304	T	0.04815	0.0130	L	0.27053	0.805	0.09310	N	1	P	0.46277	0.875	B	0.38327	0.271	T	0.36040	-0.9764	10	0.72032	D	0.01	-3.2384	4.8849	0.13697	0.0:0.2345:0.2762:0.4893	.	1571	Q8NFC6	BOD1L_HUMAN	Y	1571	ENSP00000040738:N1571Y	ENSP00000040738:N1571Y	N	-	1	0	BOD1L	13212911	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.362000	0.07602	-0.031000	0.13781	0.528000	0.53228	AAT		0.468	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		5	19	0	0	0	0	5	19				
GPR125	166647	broad.mit.edu	37	4	22517230	22517230	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:22517230C>T	ENST00000334304.5	-	1	447	c.178G>A	c.(178-180)Gag>Aag	p.E60K	GPR125_ENST00000502482.1_Missense_Mutation_p.E60K	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	60					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ACCTTGCCCTCGGCGGCGCCC	0.761																																						uc003gqm.1		NA																	0				skin(1)	1						c.(178-180)GAG>AAG		G protein-coupled receptor 125 precursor							14.0	15.0	15.0					4																	22517230		2190	4283	6473	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22517230C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.178G>A	4.37:g.22517230C>T	ENSP00000334952:p.Glu60Lys					GPR125_uc003gqo.2_Missense_Mutation_p.E60K	p.E60K	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			1	443	-		Breast(46;0.198)	60			Extracellular (Potential).		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.178G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794941	0.70452	.	.	ENSG00000152990	ENST00000334304;ENST00000502482	T;T	0.57436	0.58;0.4	3.51	3.51	0.40186	.	0.111137	0.33127	U	0.005255	T	0.31389	0.0795	N	0.19112	0.55	0.43385	D	0.995491	P;P	0.47106	0.89;0.596	B;B	0.32393	0.14;0.145	T	0.29671	-1.0004	10	0.52906	T	0.07	.	12.7969	0.57564	0.0:1.0:0.0:0.0	.	60;60	Q8IWK6-2;Q8IWK6	.;GP125_HUMAN	K	60	ENSP00000334952:E60K;ENSP00000421006:E60K	ENSP00000334952:E60K	E	-	1	0	GPR125	22126328	1.000000	0.71417	0.985000	0.45067	0.865000	0.49528	3.677000	0.54619	1.474000	0.48178	0.462000	0.41574	GAG		0.761	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			11	11	0	0	0	0	11	11				
PDS5A	23244	broad.mit.edu	37	4	39843630	39843630	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:39843630C>G	ENST00000303538.8	-	31	4134	c.3595G>C	c.(3595-3597)Gag>Cag	p.E1199Q		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACAGGGTTCTCTTCATTTTCA	0.343																																						uc003guv.3		NA																	0					0						c.(3595-3597)GAG>CAG		PDS5, regulator of cohesion maintenance, homolog							87.0	83.0	85.0					4																	39843630		1821	4072	5893	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39843630C>G	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3595G>C	4.37:g.39843630C>G	ENSP00000303427:p.Glu1199Gln					PDS5A_uc010ifo.2_Missense_Mutation_p.E1159Q	p.E1199Q	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			31	4135	-			1199						Missense_Mutation	SNP	ENST00000303538.8	37	c.3595G>C	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833927	0.71373	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.04	5.04	0.67666	.	0.224286	0.35207	N	0.003362	T	0.54902	0.1887	N	0.19112	0.55	0.80722	D	1	P	0.40376	0.715	P	0.49387	0.609	T	0.51474	-0.8701	8	.	.	.	-13.582	18.3818	0.90453	0.0:1.0:0.0:0.0	.	1199	Q29RF7	PDS5A_HUMAN	Q	1199	.	.	E	-	1	0	PDS5A	39520025	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.124000	0.71620	2.349000	0.79799	0.585000	0.79938	GAG		0.343	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		4	41	0	0	0	0	4	41				
DCAF4L1	285429	broad.mit.edu	37	4	41984115	41984115	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:41984115C>T	ENST00000333141.5	+	1	403	c.306C>T	c.(304-306)atC>atT	p.I102I		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	102										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						ACGGCATCATCAGCCTGCGAA	0.557																																						uc003gwk.2		NA																	0				skin(1)	1						c.(304-306)ATC>ATT		WD repeat domain 21B							97.0	88.0	91.0					4																	41984115		2203	4300	6503	SO:0001819	synonymous_variant	285429							g.chr4:41984115C>T	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.306C>T	4.37:g.41984115C>T							p.I102I	NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN			1	403	+			102					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	ENST00000333141.5	37	c.306C>T	CCDS33978.1																																																																																				0.557	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		17	42	0	0	0	0	17	42				
SHISA3	152573	broad.mit.edu	37	4	42403210	42403210	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:42403210C>G	ENST00000319234.4	+	2	677	c.459C>G	c.(457-459)acC>acG	p.T153T		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	153					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TGACCTCCACCAGCCCCAGGG	0.647																																						uc003gwp.2		NA																	0				ovary(1)|skin(1)	2						c.(457-459)ACC>ACG		shisa homolog 3 precursor							116.0	125.0	122.0					4																	42403210		2203	4300	6503	SO:0001819	synonymous_variant	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403210C>G	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.459C>G	4.37:g.42403210C>G							p.T153T	NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN			2	677	+			153			Cytoplasmic (Potential).		A0PJX3|Q96EQ5	Silent	SNP	ENST00000319234.4	37	c.459C>G	CCDS33979.1																																																																																				0.647	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		30	108	0	0	0	0	30	108				
CHIC2	26511	broad.mit.edu	37	4	54880271	54880271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:54880271C>T	ENST00000263921.3	-	4	735	c.346G>A	c.(346-348)Gag>Aag	p.E116K	CHIC2_ENST00000512964.1_Intron|FIP1L1_ENST00000507166.1_Intron	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	116						Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AATAACTTCTCAATCGATCTT	0.403			T	ETV6	AML																																	uc003haj.1		NA		Dom	yes		4	4q11-q12	26511	T	cysteine-rich hydrophobic domain 2			L	ETV6		AML		0				central_nervous_system(1)	1						c.(346-348)GAG>AAG		cysteine-rich hydrophobic domain 2							132.0	116.0	121.0					4																	54880271		2202	4300	6502	SO:0001583	missense	26511					plasma membrane	protein binding	g.chr4:54880271C>T	AF159423	CCDS3493.1	4q12	2013-09-04			ENSG00000109220	ENSG00000109220			1935	protein-coding gene	gene with protein product		604332				10477709	Standard	NM_012110		Approved	BTL	uc003haj.2	Q9UKJ5	OTTHUMG00000102101	ENST00000263921.3:c.346G>A	4.37:g.54880271C>T	ENSP00000263921:p.Glu116Lys					PDGFRA_uc003haa.2_Intron	p.E116K	NM_012110	NP_036242	Q9UKJ5	CHIC2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		4	667	-	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		116					B2R639	Missense_Mutation	SNP	ENST00000263921.3	37	c.346G>A	CCDS3493.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325530	0.60743	.	.	ENSG00000109220	ENST00000263921	.	.	.	5.44	5.44	0.79542	Golgin subfamily A member 7/ERF4 (1);	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	L	0.34521	1.04	0.80722	D	1	B	0.29232	0.238	B	0.34590	0.186	T	0.50389	-0.8834	9	0.19147	T	0.46	-22.075	19.2629	0.93975	0.0:1.0:0.0:0.0	.	116	Q9UKJ5	CHIC2_HUMAN	K	116	.	ENSP00000263921:E116K	E	-	1	0	CHIC2	54575028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.778000	0.68940	2.551000	0.86045	0.650000	0.86243	GAG		0.403	CHIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219937.2			10	19	0	0	0	0	10	19				
TMPRSS11F	389208	broad.mit.edu	37	4	68925156	68925156	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:68925156C>G	ENST00000356291.2	-	9	1105	c.1046G>C	c.(1045-1047)aGa>aCa	p.R349T	RP11-35D5.1_ENST00000600441.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	349	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GGTTTCCACTCTGGCTTGCCG	0.358																																						uc003hdt.1		NA																	0				ovary(1)	1						c.(1045-1047)AGA>ACA		transmembrane protease, serine 11F							186.0	160.0	169.0					4																	68925156		2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68925156C>G	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.1046G>C	4.37:g.68925156C>G	ENSP00000348639:p.Arg349Thr					LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	p.R349T	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			9	1095	-			349			Peptidase S1.|Extracellular (Potential).		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.1046G>C	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883738	0.51908	.	.	ENSG00000198092	ENST00000356291	D	0.88046	-2.33	4.96	4.12	0.48240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000033	T	0.80025	0.4548	N	0.02708	-0.52	0.28356	N	0.920662	D	0.69078	0.997	D	0.80764	0.994	T	0.70753	-0.4786	10	0.10636	T	0.68	.	7.6071	0.28107	0.0:0.8061:0.0:0.1939	.	349	Q6ZWK6	TM11F_HUMAN	T	349	ENSP00000348639:R349T	ENSP00000348639:R349T	R	-	2	0	TMPRSS11F	68607751	0.095000	0.21747	0.994000	0.49952	0.765000	0.43378	0.490000	0.22403	1.099000	0.41499	-0.218000	0.12543	AGA		0.358	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		12	21	0	0	0	0	12	21				
NDST4	64579	broad.mit.edu	37	4	115769459	115769459	+	Missense_Mutation	SNP	G	G	C	rs559755185		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:115769459G>C	ENST00000264363.2	-	9	2530	c.1852C>G	c.(1852-1854)Cct>Gct	p.P618A		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	618	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATGATTGAAGGATGCATAAGA	0.308																																						uc003ibu.2		NA																	0				skin(3)|ovary(1)	4						c.(1852-1854)CCT>GCT		heparan sulfate N-deacetylase/N-sulfotransferase							118.0	115.0	116.0					4																	115769459		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115769459G>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1852C>G	4.37:g.115769459G>C	ENSP00000264363:p.Pro618Ala					NDST4_uc010imw.2_RNA	p.P618A	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	9	2531	-		Ovarian(17;0.156)	618			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1852C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618008	0.87359	.	.	ENSG00000138653	ENST00000264363	T	0.72615	-0.67	5.41	5.41	0.78517	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.88548	0.6466	H	0.96518	3.835	0.80722	D	1	D	0.60575	0.988	P	0.60236	0.871	D	0.91773	0.5429	10	0.72032	D	0.01	.	19.5612	0.95373	0.0:0.0:1.0:0.0	.	618	Q9H3R1	NDST4_HUMAN	A	618	ENSP00000264363:P618A	ENSP00000264363:P618A	P	-	1	0	NDST4	115988908	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.406000	0.97321	2.687000	0.91594	0.655000	0.94253	CCT		0.308	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		4	60	0	0	0	0	4	60				
QRFPR	84109	broad.mit.edu	37	4	122250496	122250496	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:122250496C>A	ENST00000394427.2	-	6	1680	c.1269G>T	c.(1267-1269)gaG>gaT	p.E423D	Y_RNA_ENST00000384419.1_RNA|QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	423					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AAGGAGAATTCTCAGCCAGTT	0.368																																						uc010inj.1		NA																	0					0						c.(1267-1269)GAG>GAT		G protein-coupled receptor 103							116.0	110.0	112.0					4																	122250496		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122250496C>A	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1269G>T	4.37:g.122250496C>A	ENSP00000377948:p.Glu423Asp					QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_3'UTR	p.E423D	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN			6	1648	-			423			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000394427.2	37	c.1269G>T	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	C	6.682	0.494372	0.12702	.	.	ENSG00000186867	ENST00000394427	T	0.72505	-0.66	4.63	0.794	0.18638	.	0.699197	0.12996	N	0.422036	T	0.48822	0.1521	N	0.24115	0.695	0.09310	N	0.999999	B	0.14438	0.01	B	0.14023	0.01	T	0.25012	-1.0144	10	0.15952	T	0.53	.	4.9629	0.14076	0.138:0.4446:0.0:0.4174	.	423	Q96P65	QRFPR_HUMAN	D	423	ENSP00000377948:E423D	ENSP00000377948:E423D	E	-	3	2	QRFPR	122469946	0.010000	0.17322	0.219000	0.23793	0.768000	0.43524	-0.728000	0.04925	0.186000	0.20125	0.313000	0.20887	GAG		0.368	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		23	55	1	0	1.11e-12	1.89e-12	23	55				
HPGD	3248	broad.mit.edu	37	4	175414436	175414436	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:175414436C>T	ENST00000296522.6	-	6	974	c.528G>A	c.(526-528)gtG>gtA	p.V176V	HPGD_ENST00000510901.1_Silent_p.V55V|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000422112.2_Silent_p.V108V|HPGD_ENST00000296521.7_Intron|HPGD_ENST00000541923.1_Silent_p.V55V	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	176					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		CATTCAGTCTCACACCACTGT	0.363																																						uc003itu.2		NA																	0					0						c.(526-528)GTG>GTA		hydroxyprostaglandin dehydrogenase 15-(NAD)	NADH(DB00157)						104.0	99.0	101.0					4																	175414436		2203	4299	6502	SO:0001819	synonymous_variant	3248				female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity	g.chr4:175414436C>T		CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	5154	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 36C, member 1"""	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.528G>A	4.37:g.175414436C>T						HPGD_uc003itt.2_Silent_p.V43V|HPGD_uc003itv.2_Intron|HPGD_uc011ckf.1_Silent_p.V55V|HPGD_uc010irp.2_Silent_p.V55V|HPGD_uc010irq.2_Intron|HPGD_uc011ckg.1_Silent_p.V108V|HPGD_uc011ckh.1_Silent_p.V55V	p.V176V	NM_000860	NP_000851	P15428	PGDH_HUMAN		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	6	718	-		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)	176					B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Silent	SNP	ENST00000296522.6	37	c.528G>A	CCDS3821.1																																																																																				0.363	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362228.3			9	45	0	0	0	0	9	45				
ADAM29	11086	broad.mit.edu	37	4	175897135	175897135	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:175897135C>T	ENST00000359240.3	+	5	1129	c.459C>T	c.(457-459)gaC>gaT	p.D153D	ADAM29_ENST00000514159.1_Silent_p.D153D|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Silent_p.D153D|ADAM29_ENST00000445694.1_Silent_p.D153D	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	153					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACAAGATGGACAGTGAGGAGA	0.363																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(457-459)GAC>GAT		ADAM metallopeptidase domain 29 preproprotein							86.0	89.0	88.0					4																	175897135		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897135C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.459C>T	4.37:g.175897135C>T						ADAM29_uc003iud.2_Silent_p.D153D|ADAM29_uc010irr.2_Silent_p.D153D|ADAM29_uc011cki.1_Silent_p.D153D	p.D153D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1129	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	153					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.459C>T	CCDS3823.1																																																																																				0.363	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				19	67	0	0	0	0	19	67				
SNX25	83891	broad.mit.edu	37	4	186231908	186231908	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:186231908C>A	ENST00000504273.1	+	7	1084	c.790C>A	c.(790-792)Cct>Act	p.P264T	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.P264T			Q9H3E2	SNX25_HUMAN	sorting nexin 25	264					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CCTGGGAGGCCCTGCCTATGA	0.512																																						uc003ixh.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(790-792)CCT>ACT		sorting nexin 25							47.0	47.0	47.0					4																	186231908		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186231908C>A	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.790C>A	4.37:g.186231908C>A	ENSP00000426255:p.Pro264Thr					SNX25_uc010ish.2_Missense_Mutation_p.P35T	p.P264T	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	7	979	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	264					Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.790C>A	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518050	0.85495	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.09723	2.95;2.95	5.59	5.59	0.84812	.	0.064498	0.64402	D	0.000005	T	0.32852	0.0843	M	0.71581	2.175	0.54753	D	0.999989	D;D	0.89917	1.0;0.972	D;P	0.87578	0.998;0.476	T	0.02491	-1.1151	10	0.17832	T	0.49	-6.8255	19.5844	0.95485	0.0:1.0:0.0:0.0	.	35;264	Q8N6K3;Q9H3E2	.;SNX25_HUMAN	T	264	ENSP00000426255:P264T;ENSP00000264694:P264T	ENSP00000264694:P264T	P	+	1	0	SNX25	186468902	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.619000	0.88677	0.655000	0.94253	CCT		0.512	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		14	80	1	0	4.15e-12	7.07e-12	14	80				
ANKRD37	353322	broad.mit.edu	37	4	186318369	186318369	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:186318369G>A	ENST00000335174.4	+	2	533	c.93G>A	c.(91-93)aaG>aaA	p.K31K	ANKRD37_ENST00000507479.1_3'UTR|LRP2BP_ENST00000505916.1_5'Flank	NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	31						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		ATCCCTGCAAGCAGTCGCCTG	0.592																																						uc003ixm.2		NA																	0					0						c.(91-93)AAG>AAA		ankyrin repeat domain 37							70.0	70.0	70.0					4																	186318369		2203	4300	6503	SO:0001819	synonymous_variant	353322					cytoplasm|nucleus		g.chr4:186318369G>A	AY296056	CCDS3841.1	4q35.1	2013-01-11						"""Ankyrin repeat domain containing"""	29593	protein-coding gene	gene with protein product							Standard	NM_181726		Approved	Lrp2bp	uc003ixm.3	Q7Z713		ENST00000335174.4:c.93G>A	4.37:g.186318369G>A						LRP2BP_uc011ckr.1_5'Flank|ANKRD37_uc011cks.1_Silent_p.K31K	p.K31K	NM_181726	NP_859077	Q7Z713	ANR37_HUMAN		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)	2	331	+		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	31			ANK 2.			Silent	SNP	ENST00000335174.4	37	c.93G>A	CCDS3841.1																																																																																				0.592	ANKRD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360673.1	NM_181726		14	73	0	0	0	0	14	73				
FAT1	2195	broad.mit.edu	37	4	187630110	187630110	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:187630110G>C	ENST00000441802.2	-	2	1081	c.872C>G	c.(871-873)tCt>tGt	p.S291C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	291					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						GATGCTTAAAGATGCTATGTC	0.488										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.(871-873)TCT>TGT		FAT tumor suppressor 1 precursor							287.0	282.0	284.0					4																	187630110		2129	4247	6376	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.chr4:187630110G>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.872C>G	4.37:g.187630110G>C	ENSP00000406229:p.Ser291Cys	HNSCC(5;0.00058)				FAT1_uc010iso.1_Missense_Mutation_p.S291C	p.S291C	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	1060	-			291			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000441802.2	37	c.872C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485786	0.63962	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.62105	0.05;0.05	5.04	5.04	0.67666	Cadherin (1);	0.000000	0.85682	D	0.000000	T	0.78052	0.4223	M	0.85777	2.775	0.80722	D	1	D	0.61080	0.989	P	0.56514	0.8	T	0.79626	-0.1725	10	0.41790	T	0.15	.	18.5672	0.91120	0.0:0.0:1.0:0.0	.	291	Q14517	FAT1_HUMAN	C	291	ENSP00000406229:S291C;ENSP00000423736:S291C	ENSP00000260147:S291C	S	-	2	0	FAT1	187867104	1.000000	0.71417	0.037000	0.18230	0.674000	0.39518	9.657000	0.98554	2.613000	0.88420	0.591000	0.81541	TCT		0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		20	173	0	0	0	0	20	173				
DNAH5	1767	broad.mit.edu	37	5	13901432	13901432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:13901432G>A	ENST00000265104.4	-	14	2085	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	661	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R661C(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGTAACTGCGAATTATAGGT	0.532									Kartagener syndrome																													uc003jfd.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(1981-1983)CGC>TGC		dynein, axonemal, heavy chain 5							75.0	72.0	73.0					5																	13901432		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13901432G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1981C>T	5.37:g.13901432G>A	ENSP00000265104:p.Arg661Cys						p.R661C	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			14	2023	-	Lung NSC(4;0.00476)		661			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.1981C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855940	0.71834	.	.	ENSG00000039139	ENST00000265104	T	0.57107	0.42	5.55	5.55	0.83447	Dynein heavy chain, domain-1 (1);	0.126361	0.53938	D	0.000052	T	0.75474	0.3854	M	0.83384	2.64	0.58432	D	0.999998	D	0.76494	0.999	D	0.67725	0.953	T	0.78929	-0.2010	10	0.87932	D	0	.	19.4947	0.95067	0.0:0.0:1.0:0.0	.	661	Q8TE73	DYH5_HUMAN	C	661	ENSP00000265104:R661C	ENSP00000265104:R661C	R	-	1	0	DNAH5	13954432	1.000000	0.71417	0.998000	0.56505	0.626000	0.37791	5.914000	0.69964	2.622000	0.88805	0.491000	0.48974	CGC		0.532	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		16	30	0	0	0	0	16	30				
CDH9	1007	broad.mit.edu	37	5	26881405	26881405	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:26881405G>A	ENST00000231021.4	-	12	2382	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	737					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATAGGCATACGTTGCCAGCGA	0.423																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(2209-2211)ACG>ATG		cadherin 9, type 2 preproprotein							144.0	135.0	138.0					5																	26881405		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881405G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2210C>T	5.37:g.26881405G>A	ENSP00000231021:p.Thr737Met					CDH9_uc011cnv.1_Missense_Mutation_p.T330M	p.T737M	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			12	2379	-			737			Cytoplasmic (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2210C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514444	0.64522	.	.	ENSG00000113100	ENST00000231021	T	0.78595	-1.19	5.36	5.36	0.76844	Cadherin, cytoplasmic domain (1);	0.044682	0.85682	D	0.000000	D	0.91277	0.7250	M	0.94063	3.49	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	D	0.93378	0.6741	9	.	.	.	.	17.6601	0.88191	0.0:0.0:1.0:0.0	.	330;737	B4DFP0;Q9ULB4	.;CADH9_HUMAN	M	737	ENSP00000231021:T737M	.	T	-	2	0	CDH9	26917162	1.000000	0.71417	0.379000	0.26080	0.687000	0.40016	9.835000	0.99442	2.504000	0.84457	0.557000	0.71058	ACG		0.423	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		29	72	0	0	0	0	29	72				
PRLR	5618	broad.mit.edu	37	5	35086419	35086419	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:35086419C>G	ENST00000382002.5	-	4	520	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	PRLR_ENST00000310101.5_Missense_Mutation_p.E32Q|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000231423.3_Missense_Mutation_p.E32Q|PRLR_ENST00000348262.3_Missense_Mutation_p.E32Q|PRLR_ENST00000542609.1_Missense_Mutation_p.E32Q|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000513753.1_Missense_Mutation_p.E32Q|PRLR_ENST00000509934.1_5'UTR	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	32	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TTAAAGATCTCAGGTTTTCCA	0.448																																						uc003jjm.2		NA																	0				ovary(2)|skin(1)	3						c.(94-96)GAG>CAG		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						89.0	84.0	86.0					5																	35086419		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35086419C>G		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.94G>C	5.37:g.35086419C>G	ENSP00000371432:p.Glu32Gln					PRLR_uc003jjg.1_Missense_Mutation_p.E32Q|PRLR_uc003jjh.1_Missense_Mutation_p.E32Q|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Missense_Mutation_p.E32Q|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Intron|PRLR_uc010iuw.1_5'UTR	p.E32Q	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		4	624	-	all_lung(31;3.83e-05)		32			Fibronectin type-III 1.|Extracellular (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.94G>C	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	6.766	0.510151	0.12883	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000542609;ENST00000382002;ENST00000310101;ENST00000514206;ENST00000509839;ENST00000503330;ENST00000504500;ENST00000515839	T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.75	-5.41	0.02648	Fibronectin, type III (3);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	1.840300	0.02086	N	0.052767	T	0.39911	0.1096	N	0.20445	0.575	0.09310	N	0.999994	B;B;B;B	0.17667	0.023;0.007;0.003;0.003	B;B;B;B	0.15052	0.012;0.006;0.004;0.006	T	0.09997	-1.0649	10	0.24483	T	0.36	1.7539	2.8054	0.05426	0.0993:0.2524:0.1961:0.4522	.	32;32;32;32	P16471;P16471-7;P16471-6;P16471-4	PRLR_HUMAN;.;.;.	Q	32	ENSP00000231423:E32Q;ENSP00000424841:E32Q;ENSP00000311613:E32Q;ENSP00000441813:E32Q;ENSP00000371432:E32Q;ENSP00000309008:E32Q;ENSP00000423493:E32Q;ENSP00000427060:E32Q;ENSP00000422385:E32Q;ENSP00000422867:E32Q;ENSP00000421864:E32Q	ENSP00000231423:E32Q	E	-	1	0	PRLR	35122176	0.000000	0.05858	0.003000	0.11579	0.811000	0.45836	-1.342000	0.02645	-0.700000	0.05070	-0.258000	0.10820	GAG		0.448	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			16	55	0	0	0	0	16	55				
PAIP1	10605	broad.mit.edu	37	5	43539127	43539127	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:43539127C>T	ENST00000306846.3	-	5	977	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	PAIP1_ENST00000514514.1_Missense_Mutation_p.E170K|PAIP1_ENST00000338972.4_Missense_Mutation_p.E137K|PAIP1_ENST00000436644.2_Missense_Mutation_p.E170K	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	249	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ACTTCATATTCAGTCCGACAT	0.333																																						uc003job.2		NA																	0				ovary(1)	1						c.(745-747)GAA>AAA		poly(A) binding protein interacting protein 1							118.0	113.0	115.0					5																	43539127		2203	4300	6503	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43539127C>T	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.745G>A	5.37:g.43539127C>T	ENSP00000302768:p.Glu249Lys					PAIP1_uc003joa.2_Missense_Mutation_p.E170K|PAIP1_uc010ivp.2_Missense_Mutation_p.E170K|PAIP1_uc010ivo.2_Intron|PAIP1_uc003joc.2_Missense_Mutation_p.E137K	p.E249K	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			5	992	-	Lung NSC(6;2.07e-05)		249			MIF4G.		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.745G>A	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849187	0.91277	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	5.98	4.16	0.48862	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	M	0.79258	2.445	0.80722	D	1	D;B;D	0.76494	0.999;0.225;0.998	P;B;P	0.62560	0.904;0.118;0.883	T	0.53049	-0.8493	10	0.72032	D	0.01	-6.4763	12.1827	0.54221	0.0:0.815:0.1196:0.0654	.	170;249;170	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	K	249;170;137;170;137;137	ENSP00000302768:E249K;ENSP00000387729:E170K;ENSP00000339622:E137K;ENSP00000425084:E170K;ENSP00000425675:E137K;ENSP00000425736:E137K	ENSP00000302768:E249K	E	-	1	0	PAIP1	43574884	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.608000	0.67654	1.506000	0.48736	0.591000	0.81541	GAA		0.333	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		21	54	0	0	0	0	21	54				
SNX18	112574	broad.mit.edu	37	5	53814496	53814496	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:53814496C>T	ENST00000326277.3	+	1	904	c.714C>T	c.(712-714)tcC>tcT	p.S238S	SNX18_ENST00000343017.6_Silent_p.S238S|SNX18_ENST00000381410.4_Silent_p.S238S	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	238					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TCGTCAAGTCCGGCGGGGAGG	0.706																																						uc003jpj.3		NA																	0					0						c.(712-714)TCC>TCT		sorting nexin 18 isoform b							44.0	53.0	50.0					5																	53814496		2203	4299	6502	SO:0001819	synonymous_variant	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53814496C>T	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.714C>T	5.37:g.53814496C>T						SNX18_uc011cqg.1_Silent_p.S238S|SNX18_uc003jpi.3_Silent_p.S238S	p.S238S	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN			1	904	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	238					B4E2B3|H7BXX3|Q05BB3|Q0VG02	Silent	SNP	ENST00000326277.3	37	c.714C>T	CCDS3962.1																																																																																				0.706	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			20	45	0	0	0	0	20	45				
ANKRD34B	340120	broad.mit.edu	37	5	79854712	79854712	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:79854712G>C	ENST00000338682.3	-	5	1799	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	376						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AAGGCCAGCTGAGAGCTGGGA	0.438																																						uc010jam.2		NA																	0				pancreas(1)	1						c.(1126-1128)TCA>TGA		ankyrin repeat domain 34B							52.0	56.0	55.0					5																	79854712		2199	4299	6498	SO:0001587	stop_gained	340120					cytoplasm|nucleus		g.chr5:79854712G>C		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1127C>G	5.37:g.79854712G>C	ENSP00000339802:p.Ser376*					ANKRD34B_uc003kgw.2_Nonsense_Mutation_p.S376*|ANKRD34B_uc010jan.2_Nonsense_Mutation_p.S376*	p.S376*	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	1477	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	376					B2RPH1|Q68D79	Nonsense_Mutation	SNP	ENST00000338682.3	37	c.1127C>G	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	G	39	7.504824	0.98325	.	.	ENSG00000189127	ENST00000338682	.	.	.	5.95	5.95	0.96441	.	0.282421	0.25823	N	0.028065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-8.0191	18.9747	0.92731	0.0:0.0:1.0:0.0	.	.	.	.	X	376	.	ENSP00000339802:S376X	S	-	2	0	ANKRD34B	79890468	1.000000	0.71417	0.118000	0.21660	0.183000	0.23260	6.393000	0.73217	2.829000	0.97493	0.655000	0.94253	TCA		0.438	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		6	39	0	0	0	0	6	39				
TTC37	9652	broad.mit.edu	37	5	94842673	94842673	+	Silent	SNP	G	G	A	rs201249919		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:94842673G>A	ENST00000358746.2	-	30	3355	c.3057C>T	c.(3055-3057)taC>taT	p.Y1019Y	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1019						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTGCAACATTGTAAGTATCTT	0.323																																						uc003klb.2		NA																	0				ovary(3)|pancreas(1)	4						c.(3055-3057)TAC>TAT		tetratricopeptide repeat domain 37							137.0	141.0	140.0					5																	94842673		2201	4300	6501	SO:0001819	synonymous_variant	9652						binding	g.chr5:94842673G>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3057C>T	5.37:g.94842673G>A							p.Y1019Y	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			30	3327	-			1019					O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	c.3057C>T	CCDS4072.1																																																																																				0.323	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		15	32	0	0	0	0	15	32				
LNPEP	4012	broad.mit.edu	37	5	96320825	96320825	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:96320825C>G	ENST00000231368.5	+	3	1594	c.902C>G	c.(901-903)tCt>tGt	p.S301C	LNPEP_ENST00000395770.3_Missense_Mutation_p.S287C	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	301				S -> L (in Ref. 6; AA sequence). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GCAGCAAGATCTGCTTTTCCT	0.403																																						uc003kmv.1		NA																	0				ovary(3)|breast(1)	4						c.(901-903)TCT>TGT		leucyl/cystinyl aminopeptidase isoform 1							187.0	181.0	183.0					5																	96320825		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96320825C>G	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.902C>G	5.37:g.96320825C>G	ENSP00000231368:p.Ser301Cys					LNPEP_uc003kmw.1_Missense_Mutation_p.S287C	p.S301C	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	3	1416	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	301	S -> L (in Ref. 6; AA sequence).		Extracellular (Potential).		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.902C>G	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517279	0.64634	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.02974	4.09;4.09	5.4	5.4	0.78164	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.143129	0.49916	D	0.000126	T	0.11196	0.0273	L	0.58101	1.795	0.38936	D	0.958047	D	0.65815	0.995	D	0.65140	0.932	T	0.00275	-1.1856	10	0.66056	D	0.02	.	14.0347	0.64638	0.1512:0.8488:0.0:0.0	.	301	Q9UIQ6	LCAP_HUMAN	C	301;287	ENSP00000231368:S301C;ENSP00000379117:S287C	ENSP00000231368:S301C	S	+	2	0	LNPEP	96346581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.687000	0.54692	2.701000	0.92244	0.643000	0.83706	TCT		0.403	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		22	87	0	0	0	0	22	87				
NRG2	9542	broad.mit.edu	37	5	139231379	139231379	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:139231379T>A	ENST00000361474.1	-	9	1806	c.1582A>T	c.(1582-1584)Agc>Tgc	p.S528C	NRG2_ENST00000541337.1_Missense_Mutation_p.S462C|NRG2_ENST00000289422.7_Missense_Mutation_p.S536C|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000340391.3_Missense_Mutation_p.S325C|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289409.4_Missense_Mutation_p.S522C|NRG2_ENST00000358522.3_Missense_Mutation_p.S530C|NRG2_ENST00000545385.1_Missense_Mutation_p.S530C	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	528					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGTCAGGCTCTCAGAACGT	0.632																																						uc003lex.1		NA																	0				pancreas(2)|breast(2)|ovary(1)|skin(1)	6						c.(1582-1584)AGC>TGC		neuregulin 2 isoform 1							58.0	64.0	62.0					5																	139231379		2203	4300	6503	SO:0001583	missense	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139231379T>A		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1582A>T	5.37:g.139231379T>A	ENSP00000354910:p.Ser528Cys					NRG2_uc003lev.1_Missense_Mutation_p.S536C|NRG2_uc003lew.1_Missense_Mutation_p.S530C|NRG2_uc003ley.1_Missense_Mutation_p.S522C	p.S528C	NM_004883	NP_004874	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1807	-			528			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000361474.1	37	c.1582A>T	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.643793	0.87859	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000340391;ENST00000289409;ENST00000358522	T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05	5.29	5.29	0.74685	Neuregulin 1-related, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.991;0.998;0.996;0.996	T	0.81189	-0.1046	10	0.87932	D	0	-30.579	13.7979	0.63182	0.0:0.0:0.0:1.0	.	522;528;530;536	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	C	462;536;528;536;530;325;522;530	ENSP00000444235:S462C;ENSP00000289422:S536C;ENSP00000354910:S528C;ENSP00000438753:S530C;ENSP00000342660:S325C;ENSP00000289409:S522C;ENSP00000351323:S530C	ENSP00000289409:S522C	S	-	1	0	NRG2	139211563	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.286000	0.78671	2.009000	0.58944	0.528000	0.53228	AGC		0.632	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		7	32	0	0	0	0	7	32				
PCDHA5	56143	broad.mit.edu	37	5	140203557	140203557	+	Missense_Mutation	SNP	C	C	T	rs140039635		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:140203557C>T	ENST00000529859.1	+	1	2197	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R733W|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R733W|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	733					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGTGCACACGGGGCAAGCC	0.662																																						uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(2197-2199)CGG>TGG		protocadherin alpha 5 isoform 1 precursor		C	,,,,TRP/ARG,,TRP/ARG	0,4406		0,0,2203	61.0	56.0	58.0		,,,,2197,,2197	2.3	0.0	5	dbSNP_134	58	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,intron,intron,missense,intron,missense	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,101,,101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,,,	,,,,733/937,,733/817	140203557	2,13004	2203	4300	6503	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140203557C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2197C>T	5.37:g.140203557C>T	ENSP00000436557:p.Arg733Trp					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_Missense_Mutation_p.R733W|PCDHA5_uc003lhj.1_Missense_Mutation_p.R733W	p.R733W	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2197	+			733			Cytoplasmic (Potential).		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.2197C>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024307	0.35701	0.0	2.33E-4	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.12039	2.72;2.72;2.72	4.17	2.35	0.29111	.	.	.	.	.	T	0.16938	0.0407	L	0.34521	1.04	0.09310	N	1	P;D;D	0.60160	0.929;0.976;0.987	B;P;P	0.54924	0.145;0.764;0.764	T	0.10683	-1.0619	9	0.72032	D	0.01	.	6.1083	0.20086	0.329:0.58:0.0:0.0909	.	733;733;733	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	W	733	ENSP00000433416:R733W;ENSP00000436557:R733W;ENSP00000367366:R733W	ENSP00000367366:R733W	R	+	1	2	PCDHA5	140183741	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.644000	0.24766	0.342000	0.23796	0.491000	0.48974	CGG		0.662	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		15	33	0	0	0	0	15	33				
PCDHB1	29930	broad.mit.edu	37	5	140433131	140433131	+	Silent	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:140433131C>A	ENST00000306549.3	+	1	2153	c.2076C>A	c.(2074-2076)gtC>gtA	p.V692V		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	692					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATATTTGGTCATTTCTCTGG	0.388																																						uc003lik.1		NA																	0					0						c.(2074-2076)GTC>GTA		protocadherin beta 1 precursor							154.0	155.0	155.0					5																	140433131		2203	4300	6503	SO:0001819	synonymous_variant	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140433131C>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2076C>A	5.37:g.140433131C>A							p.V692V	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2153	+			692			Helical; (Potential).		Q2M257	Silent	SNP	ENST00000306549.3	37	c.2076C>A	CCDS4243.1																																																																																				0.388	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		22	82	1	0	1.97e-08	3.31e-08	22	82				
PCDHGA5	56110	broad.mit.edu	37	5	140746180	140746180	+	Silent	SNP	G	G	A	rs555802357		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:140746180G>A	ENST00000518069.1	+	1	2283	c.2283G>A	c.(2281-2283)gcG>gcA	p.A761A	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	761					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCACCGCGGACTCGAGGA	0.592																																						uc003lju.1		NA																	0				ovary(4)	4						c.(2281-2283)GCG>GCA		protocadherin gamma subfamily A, 5 isoform 1							116.0	125.0	122.0					5																	140746180		2203	4300	6503	SO:0001819	synonymous_variant	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140746180G>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2283G>A	5.37:g.140746180G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.A761A	p.A761A	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2283	+			761			Cytoplasmic (Potential).		Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.2283G>A	CCDS54925.1																																																																																				0.592	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		13	136	0	0	0	0	13	136				
PCDHGB6	56100	broad.mit.edu	37	5	140789449	140789449	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:140789449G>A	ENST00000520790.1	+	1	1680	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	560	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACGCACCGCGGGTGCTGT	0.662																																						uc003lkj.1		NA																	0					0						c.(1678-1680)CCG>CCA		protocadherin gamma subfamily B, 6 isoform 1							24.0	32.0	29.0					5																	140789449		2087	4221	6308	SO:0001819	synonymous_variant	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140789449G>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1680G>A	5.37:g.140789449G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.P560P	p.P560P	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1680	+			560			Extracellular (Potential).|Cadherin 5.		Q9Y5C5	Silent	SNP	ENST00000520790.1	37	c.1680G>A	CCDS54929.1																																																																																				0.662	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		6	22	0	0	0	0	6	22				
SPARC	6678	broad.mit.edu	37	5	151052775	151052775	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:151052775T>C	ENST00000231061.4	-	4	436	c.123A>G	c.(121-123)gtA>gtG	p.V41V		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	41	Asp/Glu-rich (acidic; binds calcium).				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		CTCCCACAGATACCTGGAATT	0.522																																						uc003luh.2		NA																	0				central_nervous_system(1)	1						c.(121-123)GTA>GTG		secreted protein, acidic, cysteine-rich	Becaplermin(DB00102)						160.0	146.0	151.0					5																	151052775		2203	4300	6503	SO:0001819	synonymous_variant	6678				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	g.chr5:151052775T>C		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.123A>G	5.37:g.151052775T>C						GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_5'UTR|SPARC_uc003lui.2_Silent_p.V41V	p.V41V	NM_003118	NP_003109	P09486	SPRC_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	3	147	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	41			Asp/Glu-rich (acidic; binds calcium).		D3DQH9|Q6IBK4	Silent	SNP	ENST00000231061.4	37	c.123A>G	CCDS4318.1																																																																																				0.522	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		34	67	0	0	0	0	34	67				
HK3	3101	broad.mit.edu	37	5	176308467	176308467	+	Silent	SNP	G	G	A	rs200491262		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:176308467G>A	ENST00000292432.5	-	18	2554	c.2463C>T	c.(2461-2463)gaC>gaT	p.D821D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	821	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATCAGGGCGTCATCTGAGG	0.652																																						uc003mfa.2		NA																	0				ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(2461-2463)GAC>GAT		hexokinase 3							39.0	42.0	41.0					5																	176308467		2203	4300	6503	SO:0001819	synonymous_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176308467G>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2463C>T	5.37:g.176308467G>A						HK3_uc003mez.2_Silent_p.D377D	p.D821D	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		18	2555	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	821			Catalytic.		Q8N1E7	Silent	SNP	ENST00000292432.5	37	c.2463C>T	CCDS4407.1																																																																																				0.652	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			9	17	0	0	0	0	9	17				
FLT4	2324	broad.mit.edu	37	5	180057046	180057046	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:180057046C>A	ENST00000261937.6	-	5	651	c.573G>T	c.(571-573)atG>atT	p.M191I	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.M191I|FLT4_ENST00000393347.3_Missense_Mutation_p.M191I	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	191	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGACACGAGCATGCCCCGCC	0.637																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NA																	0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(571-573)ATG>ATT		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						81.0	71.0	74.0					5																	180057046		2202	4298	6500	SO:0001583	missense	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057046C>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.573G>T	5.37:g.180057046C>A	ENSP00000261937:p.Met191Ile					FLT4_uc003mlz.3_Missense_Mutation_p.M191I|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Missense_Mutation_p.M191I|FLT4_uc011dgz.1_Missense_Mutation_p.M191I|FLT4_uc011dha.1_Missense_Mutation_p.C175F	p.M191I	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	5	652	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	191			Ig-like C2-type 2.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.573G>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.316989	0.40996	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.04317	3.65;3.65;3.65	5.16	5.16	0.70880	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05640	0.0148	L	0.36672	1.1	0.40502	D	0.980656	B;B;B;B	0.31680	0.185;0.335;0.006;0.014	B;B;B;B	0.30943	0.093;0.122;0.009;0.009	T	0.33675	-0.9859	9	0.59425	D	0.04	.	13.0426	0.58908	0.1607:0.8392:0.0:0.0	.	191;191;191;191	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	I	191;191;191;1	ENSP00000261937:M191I;ENSP00000377016:M191I;ENSP00000426057:M191I	ENSP00000261937:M191I	M	-	3	0	FLT4	179989652	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	3.338000	0.52128	2.564000	0.86499	0.561000	0.74099	ATG		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			7	29	1	0	1.59e-06	2.65e-06	7	29				
SSR1	6745	broad.mit.edu	37	6	7301699	7301699	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:7301699G>T	ENST00000244763.4	-	4	473	c.387C>A	c.(385-387)gaC>gaA	p.D129E	SSR1_ENST00000489567.1_Intron|SSR1_ENST00000462112.1_Missense_Mutation_p.D129E|SSR1_ENST00000397511.2_Missense_Mutation_p.D129E|SSR1_ENST00000479365.1_Missense_Mutation_p.D129E|SSR1_ENST00000474597.1_Missense_Mutation_p.D129E|RP11-69L16.4_ENST00000379928.4_RNA|SSR1_ENST00000534851.1_Missense_Mutation_p.D102E|SSR1_ENST00000488834.1_5'UTR	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	129					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					AAAACTGGTAGTCCTGAGGAT	0.428																																						uc003mxf.3		NA																	0					0						c.(385-387)GAC>GAA		signal sequence receptor, alpha precursor							100.0	106.0	104.0					6																	7301699		2203	4300	6503	SO:0001583	missense	6745				cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding	g.chr6:7301699G>T		CCDS4499.1	6p24.3	2010-11-24	2008-08-26		ENSG00000124783	ENSG00000124783			11323	protein-coding gene	gene with protein product	"""translocon-associated protein alpha"""	600868					Standard	NM_001292008		Approved	TRAPA	uc003mxf.4	P43307	OTTHUMG00000014202	ENST00000244763.4:c.387C>A	6.37:g.7301699G>T	ENSP00000244763:p.Asp129Glu					SSR1_uc003mxg.3_Intron|SSR1_uc010jny.2_Missense_Mutation_p.D129E	p.D129E	NM_003144	NP_003135	P43307	SSRA_HUMAN			4	575	-	Ovarian(93;0.0398)		129			Lumenal (Potential).		A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49	Missense_Mutation	SNP	ENST00000244763.4	37	c.387C>A	CCDS4499.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259905	0.80246	.	.	ENSG00000124783	ENST00000474597;ENST00000244763;ENST00000397511;ENST00000534851;ENST00000479365;ENST00000462112	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.93	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	M	0.76328	2.33	0.80722	D	1	D;D	0.57571	0.965;0.98	P;P	0.61940	0.896;0.896	T	0.54316	-0.8312	10	0.38643	T	0.18	.	10.851	0.46769	0.1964:0.0:0.8036:0.0	.	129;129	C9J5W0;P43307	.;SSRA_HUMAN	E	129;129;129;102;129;129	ENSP00000418617:D129E;ENSP00000244763:D129E;ENSP00000380647:D129E;ENSP00000443020:D102E;ENSP00000417911:D129E;ENSP00000417290:D129E	ENSP00000244763:D129E	D	-	3	2	SSR1	7246698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.646000	0.46630	1.519000	0.48950	-0.136000	0.14681	GAC		0.428	SSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039775.2			23	57	1	0	3.8e-18	6.54e-18	23	57				
OR10C1	442194	broad.mit.edu	37	6	29407891	29407891	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:29407891C>T	ENST00000444197.2	+	1	809	c.99C>T	c.(97-99)atC>atT	p.I33I	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCTCACTATCTACCTGCTGA	0.557																																						uc011dlp.1		NA																	0					0						c.(97-99)ATC>ATT		olfactory receptor, family 10, subfamily C,							170.0	148.0	156.0					6																	29407891		1511	2709	4220	SO:0001819	synonymous_variant	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29407891C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.99C>T	6.37:g.29407891C>T						OR11A1_uc010jrh.1_Intron	p.I33I	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	99	+			33			Helical; Name=1; (Potential).		Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	37	c.99C>T	CCDS34364.1																																																																																				0.557	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			31	59	0	0	0	0	31	59				
NRM	11270	broad.mit.edu	37	6	30658649	30658649	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:30658649G>C	ENST00000259953.4	-	2	454	c.103C>G	c.(103-105)Ctt>Gtt	p.L35V	NRM_ENST00000376421.5_Missense_Mutation_p.L35V|NRM_ENST00000376420.5_Missense_Mutation_p.L35V|NRM_ENST00000470733.1_5'UTR|PPP1R18_ENST00000274853.3_5'Flank	NM_007243.2	NP_009174.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	35						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)				large_intestine(1)|lung(2)	3						ATCCCTCCAAGAAGTGGCCGA	0.642																																						uc003nrc.2		NA																	0					0						c.(103-105)CTT>GTT		nurim							89.0	95.0	93.0					6																	30658649		1510	2708	4218	SO:0001583	missense	11270					integral to membrane|nuclear inner membrane		g.chr6:30658649G>C	AF143676	CCDS4686.1, CCDS59498.1	6p21.3	2010-02-17			ENSG00000137404	ENSG00000137404			8003	protein-coding gene	gene with protein product						10402458, 17517639	Standard	NM_007243		Approved	NRM29	uc031sng.1	Q8IXM6	OTTHUMG00000031223	ENST00000259953.4:c.103C>G	6.37:g.30658649G>C	ENSP00000259953:p.Leu35Val					KIAA1949_uc003nrb.3_5'Flank|NRM_uc003nrd.2_RNA|NRM_uc003nre.2_5'UTR	p.L35V	NM_007243	NP_009174	Q8IXM6	NRM_HUMAN			1	121	-			35			Perinuclear space (Potential).		B0S7R0|B0S7R1|I3XIE2|I3XIE3|Q5JP57|Q5JP58|Q5JP59|Q5JP60|Q8WU45|Q9BSX3|Q9UN92	Missense_Mutation	SNP	ENST00000259953.4	37	c.103C>G	CCDS4686.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203681	0.58234	.	.	ENSG00000137404	ENST00000259953;ENST00000376420;ENST00000376421	.	.	.	4.11	4.11	0.48088	.	0.257891	0.32548	N	0.005945	T	0.06508	0.0167	N	0.14661	0.345	0.26978	N	0.965435	P	0.43477	0.808	B	0.35607	0.206	T	0.15665	-1.0429	9	0.23302	T	0.38	.	11.7811	0.52016	0.0:0.0:1.0:0.0	.	35	Q8IXM6	NRM_HUMAN	V	35	.	ENSP00000259953:L35V	L	-	1	0	NRM	30766628	0.856000	0.29760	0.902000	0.35471	0.963000	0.63663	2.491000	0.45303	2.114000	0.64651	0.306000	0.20318	CTT		0.642	NRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076466.2			21	47	0	0	0	0	21	47				
CYP21A2	1589	broad.mit.edu	37	6	32007955	32007955	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:32007955C>T	ENST00000418967.2	+	7	1070	c.912C>T	c.(910-912)gcC>gcT	p.A304A	CYP21A2_ENST00000435122.2_Silent_p.A274A	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	303			V -> M (in hyperandrogenism; due to 21- hydroxylase deficiency; non-classic type; residual activity of 46% for conversion of 17-hydroxyprogesterone and 26% for conversion of progesterone compared with the normal enzyme). {ECO:0000269|PubMed:12050257}.	V -> A (in Ref. 7; BAB70774). {ECO:0000305}.	glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	TCTCCTGGGCCGTGGTTTTTT	0.617																																					Melanoma(174;1669 1998 3915 34700 46447)	uc003nze.1		NA																	0					0						c.(910-912)GCC>GCT		cytochrome P450, family 21, subfamily A,							178.0	191.0	186.0					6																	32007955		1511	2708	4219	SO:0001819	synonymous_variant	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:32007955C>T	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.912C>T	6.37:g.32007955C>T						CYP21A2_uc003nzf.1_Silent_p.A274A	p.A304A	NM_000500	NP_000491	P08686	CP21A_HUMAN			7	1030	+			303					A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Silent	SNP	ENST00000418967.2	37	c.912C>T	CCDS4735.1																																																																																				0.617	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500		30	111	0	0	0	0	30	111				
FKBPL	63943	broad.mit.edu	37	6	32097359	32097359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:32097359C>T	ENST00000375156.3	-	2	469	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	67					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										ACCAGTTTTTCAGCTCCTTGA	0.512																																						uc003nzr.2		NA																	0					0						c.(199-201)GAA>AAA		WAF-1/CIP1 stabilizing protein 39							96.0	95.0	96.0					6																	32097359		2203	4300	6503	SO:0001583	missense	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097359C>T	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.199G>A	6.37:g.32097359C>T	ENSP00000364298:p.Glu67Lys					ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	p.E67K	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN			2	469	-			67					A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	c.199G>A	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369235	0.42003	.	.	ENSG00000204315	ENST00000375156	D	0.82803	-1.65	4.85	2.06	0.26882	.	2.533840	0.01638	N	0.023877	T	0.55816	0.1944	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.39231	-0.9624	10	0.42905	T	0.14	-3.8037	3.1798	0.06581	0.1796:0.5499:0.1737:0.0968	.	67	Q9UIM3	FKBPL_HUMAN	K	67	ENSP00000364298:E67K	ENSP00000364298:E67K	E	-	1	0	FKBPL	32205337	0.001000	0.12720	0.000000	0.03702	0.777000	0.43975	0.437000	0.21543	0.243000	0.21327	0.462000	0.41574	GAA		0.512	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			11	66	0	0	0	0	11	66				
DNAH8	1769	broad.mit.edu	37	6	38821072	38821072	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:38821072C>G	ENST00000359357.3	+	39	5285	c.5031C>G	c.(5029-5031)atC>atG	p.I1677M	DNAH8_ENST00000441566.1_Missense_Mutation_p.I1677M|DNAH8_ENST00000449981.2_Missense_Mutation_p.I1894M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1677					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTATCAAATCAGTGATTCAG	0.368																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(5029-5031)ATC>ATG		dynein, axonemal, heavy polypeptide 8							91.0	85.0	87.0					6																	38821072		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38821072C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5031C>G	6.37:g.38821072C>G	ENSP00000352312:p.Ile1677Met						p.I1677M	NM_001371	NP_001362					39	5631	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.5031C>G		.	.	.	.	.	.	.	.	.	.	C	16.03	3.006221	0.54361	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.62105	0.05;0.05;0.05	5.69	4.64	0.57946	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.74298	0.3698	M	0.86864	2.845	0.48511	D	0.999661	D	0.67145	0.996	D	0.72982	0.979	T	0.76903	-0.2787	10	0.56958	D	0.05	.	9.3862	0.38345	0.0:0.7699:0.0:0.2301	.	1677	Q96JB1	DYH8_HUMAN	M	1882;1882;1677;1677	ENSP00000333363:I1882M;ENSP00000352312:I1677M;ENSP00000402294:I1677M	ENSP00000333363:I1882M	I	+	3	3	DNAH8	38929050	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	0.789000	0.26886	2.683000	0.91414	0.563000	0.77884	ATC		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		19	32	0	0	0	0	19	32				
BYSL	705	broad.mit.edu	37	6	41900357	41900357	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:41900357C>T	ENST00000230340.4	+	7	1602	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	409					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCTGCAGCCCCATCCACAGC	0.587																																						uc003orl.2		NA																	0					0						c.(1225-1227)CCC>CCT		bystin							76.0	78.0	78.0					6																	41900357		2203	4300	6503	SO:0001819	synonymous_variant	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41900357C>T	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.1227C>T	6.37:g.41900357C>T							p.P409P	NM_004053	NP_004044	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1563	+	Colorectal(47;0.121)		409					Q6P5W4|Q86W44|Q96IP8	Silent	SNP	ENST00000230340.4	37	c.1227C>T	CCDS34450.1																																																																																				0.587	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			12	64	0	0	0	0	12	64				
SENP6	26054	broad.mit.edu	37	6	76344432	76344433	+	Nonsense_Mutation	DNP	GC	GC	TT	rs191685973		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:76344432_76344433GC>TT	ENST00000447266.2	+	5	841_842	c.363_364GC>TT	c.(361-366)acGCaa>acTTaa	p.Q122*	SENP6_ENST00000370010.2_Nonsense_Mutation_p.Q122*|SENP6_ENST00000327284.8_Nonsense_Mutation_p.Q122*|SENP6_ENST00000370014.3_Nonsense_Mutation_p.Q122*	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	122					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GTGAAAATACGCAAAATACGTC	0.322																																						uc003pid.3		NA																	0				breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6						c.(361-366)ACGCAA>ACTTAA		SUMO1/sentrin specific peptidase 6 isoform 1																																				SO:0001587	stop_gained	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76344432_76344433GC>TT		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	Exception_encountered	6.37:g.76344432_76344433delinsTT	ENSP00000402527:p.Gln122*					SENP6_uc003pie.3_Nonsense_Mutation_p.Q122*|SENP6_uc003pic.2_Nonsense_Mutation_p.Q122*|SENP6_uc003pif.1_Nonsense_Mutation_p.Q13*	p.Q122*	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN			5	982_983	+		all_hematologic(105;0.189)	122					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Nonsense_Mutation	DNP	ENST00000447266.2	37	c.363_364GC>TT	CCDS47454.1																																																																																				0.322	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		8	17	0	0	0	0	8	17				
PREP	5550	broad.mit.edu	37	6	105816838	105816838	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:105816838C>A	ENST00000369110.3	-	6	849	c.657G>T	c.(655-657)caG>caT	p.Q219H		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	219					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TATCTTCTGACTGATCGGTTC	0.418																																						uc003prc.2		NA																	0				ovary(3)	3						c.(655-657)CAG>CAT		prolyl endopeptidase	Oxytocin(DB00107)						195.0	180.0	185.0					6																	105816838		2203	4300	6503	SO:0001583	missense	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105816838C>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.657G>T	6.37:g.105816838C>A	ENSP00000358106:p.Gln219His						p.Q219H	NM_002726	NP_002717	P48147	PPCE_HUMAN			6	860	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	219					Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	c.657G>T	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629168	0.67015	.	.	ENSG00000085377	ENST00000369110	T	0.52983	0.64	6.17	1.96	0.26148	Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	H	0.97023	3.925	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.79436	-0.1804	10	0.87932	D	0	-20.4805	11.9953	0.53198	0.0:0.6372:0.0:0.3628	.	219	P48147	PPCE_HUMAN	H	219	ENSP00000358106:Q219H	ENSP00000358106:Q219H	Q	-	3	2	PREP	105923531	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.486000	0.45259	0.489000	0.27749	0.655000	0.94253	CAG		0.418	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			23	33	1	0	5.35e-11	9.07e-11	23	33				
FRK	2444	broad.mit.edu	37	6	116265528	116265528	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:116265528G>A	ENST00000606080.1	-	6	1465	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F	FRK_ENST00000538210.1_Missense_Mutation_p.S198F	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	340	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GGCCATTCCAGAGGCAACCTG	0.418																																						uc003pwi.1		NA																	0				ovary(3)|lung(3)	6						c.(1018-1020)TCT>TTT		fyn-related kinase							80.0	80.0	80.0					6																	116265528		2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116265528G>A	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1019C>T	6.37:g.116265528G>A	ENSP00000476145:p.Ser340Phe						p.S340F	NM_002031	NP_002022	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	6	1466	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	340			Protein kinase.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.1019C>T	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248260	0.80024	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	D;D	0.83419	-1.72;-1.72	5.6	3.76	0.43208	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.113613	0.39020	N	0.001488	D	0.86045	0.5839	M	0.62154	1.92	0.58432	D	0.999999	D	0.71674	0.998	D	0.66084	0.941	D	0.87738	0.2583	10	0.87932	D	0	.	15.9826	0.80125	0.0:0.2548:0.7452:0.0	.	340	P42685	FRK_HUMAN	F	340;198	ENSP00000357615:S340F;ENSP00000443075:S198F	ENSP00000357615:S340F	S	-	2	0	FRK	116372221	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	4.877000	0.63086	0.648000	0.30732	0.591000	0.81541	TCT		0.418	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		10	40	0	0	0	0	10	40				
GRM1	2911	broad.mit.edu	37	6	146720758	146720758	+	Silent	SNP	C	C	T	rs148042148		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:146720758C>T	ENST00000282753.1	+	7	2818	c.2583C>T	c.(2581-2583)ggC>ggT	p.G861G	GRM1_ENST00000392299.2_Silent_p.G861G|GRM1_ENST00000492807.2_Silent_p.G861G|GRM1_ENST00000361719.2_Silent_p.G861G|GRM1_ENST00000507907.1_Silent_p.G861G|GRM1_ENST00000355289.4_Silent_p.G861G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	861					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TGCATGTTGGCGATGGCAAGC	0.522																																						uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2581-2583)GGC>GGT		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	C	,	1,4405	2.1+/-5.4	0,1,2202	52.0	44.0	47.0		2583,2583	-3.1	1.0	6	dbSNP_134	47	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	GRM1	NM_000838.3,NM_001114329.1	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	861/1195,861/907	146720758	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720758C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2583C>T	6.37:g.146720758C>T						GRM1_uc010khv.1_Silent_p.G861G|GRM1_uc003qll.2_Silent_p.G861G|GRM1_uc011edz.1_Silent_p.G861G|GRM1_uc011eea.1_Silent_p.G861G	p.G861G	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	3053	+		Ovarian(120;0.0387)	861			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.2583C>T	CCDS5209.1																																																																																				0.522	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		12	25	0	0	0	0	12	25				
TAB2	23118	broad.mit.edu	37	6	149699950	149699950	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:149699950C>T	ENST00000367456.1	+	4	1476	c.899C>T	c.(898-900)tCa>tTa	p.S300L	TAB2_ENST00000286332.5_Missense_Mutation_p.S300L|TAB2_ENST00000538427.1_Missense_Mutation_p.S300L|TAB2_ENST00000536230.1_Missense_Mutation_p.S268L|TAB2_ENST00000392282.1_Missense_Mutation_p.S300L			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	300					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACCATTCATTCATCTGGTAGC	0.433																																						uc003qmj.2		NA																	0					0						c.(898-900)TCA>TTA		mitogen-activated protein kinase kinase kinase 7							156.0	138.0	144.0					6																	149699950		2203	4300	6503	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149699950C>T	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.899C>T	6.37:g.149699950C>T	ENSP00000356426:p.Ser300Leu					TAB2_uc011eec.1_Missense_Mutation_p.S268L|TAB2_uc010kia.1_Missense_Mutation_p.S300L|TAB2_uc010kib.1_Missense_Mutation_p.S300L|TAB2_uc003qmk.3_RNA	p.S300L	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN			3	1077	+			300					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.899C>T	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078815	0.36662	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.73152	-0.71;-0.72;-0.71;-0.71;-0.71	6.16	6.16	0.99307	.	0.347524	0.32952	N	0.005452	T	0.48677	0.1513	N	0.19112	0.55	0.80722	D	1	B;B	0.23058	0.079;0.079	B;B	0.19391	0.025;0.025	T	0.41305	-0.9516	10	0.37606	T	0.19	-1.44	20.8598	0.99761	0.0:1.0:0.0:0.0	.	268;300	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	L	268;300;300;300;300	ENSP00000443206:S268L;ENSP00000376106:S300L;ENSP00000445752:S300L;ENSP00000356426:S300L;ENSP00000286332:S300L	ENSP00000286332:S300L	S	+	2	0	TAB2	149741643	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	7.294000	0.78760	2.937000	0.99478	0.650000	0.86243	TCA		0.433	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			9	82	0	0	0	0	9	82				
SYNE1	23345	broad.mit.edu	37	6	152737810	152737810	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:152737810G>A	ENST00000367255.5	-	41	6363	c.5762C>T	c.(5761-5763)tCt>tTt	p.S1921F	SYNE1_ENST00000448038.1_Missense_Mutation_p.S1928F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1958F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1928F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1921F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1921					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACGGCAGCAGATTCTAATGC	0.453										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(5761-5763)TCT>TTT		spectrin repeat containing, nuclear envelope 1							108.0	104.0	105.0					6																	152737810		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152737810G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5762C>T	6.37:g.152737810G>A	ENSP00000356224:p.Ser1921Phe	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.S1928F|SYNE1_uc003qou.3_Missense_Mutation_p.S1921F|SYNE1_uc010kjb.1_Missense_Mutation_p.S1904F	p.S1921F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6364	-		Ovarian(120;0.0955)	1921			Cytoplasmic (Potential).|Potential.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.5762C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	7.304	0.613684	0.14066	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.55760	0.59;0.59;0.5;0.58;0.68	6.07	4.17	0.49024	.	0.315194	0.27600	N	0.018646	T	0.42245	0.1194	L	0.57536	1.79	0.80722	D	1	P;P;P;P	0.47604	0.8;0.898;0.898;0.875	B;B;B;B	0.41860	0.259;0.282;0.282;0.368	T	0.53592	-0.8417	10	0.59425	D	0.04	.	18.4585	0.90729	0.0:0.2365:0.7635:0.0	.	1904;1921;1921;1928	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	F	1921;1928;1921;1928;1958	ENSP00000356224:S1921F;ENSP00000396024:S1928F;ENSP00000265368:S1921F;ENSP00000390975:S1928F;ENSP00000341887:S1958F	ENSP00000265368:S1921F	S	-	2	0	SYNE1	152779503	0.891000	0.30450	0.576000	0.28549	0.106000	0.19336	4.716000	0.61916	1.537000	0.49254	0.655000	0.94253	TCT		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		21	46	0	0	0	0	21	46				
PDE10A	10846	broad.mit.edu	37	6	165792780	165792780	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:165792780T>A	ENST00000366882.1	-	19	2012	c.1858A>T	c.(1858-1860)Atc>Ttc	p.I620F	PDE10A_ENST00000354448.4_Missense_Mutation_p.I620F|PDE10A_ENST00000539869.2_Missense_Mutation_p.I630F			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	620					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GTGGCAATGATGGCTTTGCGG	0.413																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	0				ovary(3)|skin(2)	5						c.(1858-1860)ATC>TTC		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						144.0	134.0	137.0					6																	165792780		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165792780T>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1858A>T	6.37:g.165792780T>A	ENSP00000355847:p.Ile620Phe					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.I550F|PDE10A_uc003quo.2_Missense_Mutation_p.I630F	p.I620F	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	19	2099	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	620					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1858A>T		.	.	.	.	.	.	.	.	.	.	T	33	5.194245	0.94960	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.86769	-2.17;-2.17	5.95	5.95	0.96441	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.044050	0.85682	D	0.000000	D	0.94328	0.8177	M	0.93197	3.39	0.80722	D	1	D;D	0.71674	0.958;0.998	P;D	0.65874	0.672;0.939	D	0.95589	0.8653	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	630;620	Q9ULW9;Q9Y233	.;PDE10_HUMAN	F	620;648;630;620;619	ENSP00000355847:I620F;ENSP00000346435:I620F	ENSP00000341187:I630F	I	-	1	0	PDE10A	165712770	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.409000	0.80053	2.279000	0.76181	0.533000	0.62120	ATC		0.413	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			7	41	0	0	0	0	7	41				
SFRP4	6424	broad.mit.edu	37	7	37956080	37956080	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:37956080G>A	ENST00000436072.2	-	1	437	c.60C>T	c.(58-60)cgC>cgT	p.R20R	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	20	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGGGCGCGCCGCGCACGCCCA	0.682																																						uc003tfo.3		NA																	0				lung(1)	1						c.(58-60)CGC>CGT		secreted frizzled-related  protein 4 precursor							50.0	45.0	47.0					7																	37956080		2200	4297	6497	SO:0001819	synonymous_variant	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37956080G>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.60C>T	7.37:g.37956080G>A							p.R20R	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			1	446	-			20			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	37	c.60C>T	CCDS5453.1																																																																																				0.682	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		19	32	0	0	0	0	19	32				
ABCA13	154664	broad.mit.edu	37	7	48318187	48318187	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:48318187C>G	ENST00000435803.1	+	18	7420	c.7396C>G	c.(7396-7398)Cta>Gta	p.L2466V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2466					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						TTCATTCCCTCTAAGAAACAG	0.358																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(7396-7398)CTA>GTA		ATP binding cassette, sub-family A (ABC1),							96.0	97.0	97.0					7																	48318187		1806	4070	5876	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318187C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7396C>G	7.37:g.48318187C>G	ENSP00000411096:p.Leu2466Val					ABCA13_uc010kys.1_5'Flank	p.L2466V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	7421	+			2466					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7396C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443697	0.63067	.	.	ENSG00000179869	ENST00000435803	T	0.63580	-0.05	5.02	1.71	0.24356	.	0.485193	0.15317	N	0.268761	T	0.61123	0.2322	L	0.32530	0.975	0.09310	N	1	D	0.61080	0.989	P	0.57679	0.825	T	0.51466	-0.8702	10	0.87932	D	0	.	8.0084	0.30338	0.0:0.6938:0.0:0.3062	.	2466	Q86UQ4	ABCAD_HUMAN	V	2466	ENSP00000411096:L2466V	ENSP00000411096:L2466V	L	+	1	2	ABCA13	48288733	0.000000	0.05858	0.003000	0.11579	0.681000	0.39784	0.037000	0.13840	0.527000	0.28560	-0.137000	0.14449	CTA		0.358	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		12	129	0	0	0	0	12	129				
WBSCR17	64409	broad.mit.edu	37	7	70853278	70853278	+	Missense_Mutation	SNP	C	C	G	rs545490342		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:70853278C>G	ENST00000333538.5	+	3	1114	c.480C>G	c.(478-480)ttC>ttG	p.F160L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	160	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TATTCATCTTCGTGAACGAGG	0.527																																						uc003tvy.2		NA																	0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(478-480)TTC>TTG		UDP-GalNAc:polypeptide							122.0	108.0	113.0					7																	70853278		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70853278C>G	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.480C>G	7.37:g.70853278C>G	ENSP00000329654:p.Phe160Leu					WBSCR17_uc003tvz.2_5'UTR	p.F160L	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			3	480	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	160			Catalytic subdomain A.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.480C>G	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429541	0.83776	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.61040	0.14;0.14	5.54	-3.96	0.04106	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	M	0.88640	2.97	0.54753	D	0.999981	D	0.54964	0.969	P	0.62014	0.897	T	0.77405	-0.2600	10	0.87932	D	0	.	14.8801	0.70525	0.0:0.3639:0.0:0.6361	.	160	Q6IS24	GLTL3_HUMAN	L	160;138	ENSP00000329654:F160L;ENSP00000392019:F138L	ENSP00000329654:F160L	F	+	3	2	WBSCR17	70491214	0.000000	0.05858	0.820000	0.32676	0.965000	0.64279	-1.804000	0.01738	-1.138000	0.02884	-0.748000	0.03510	TTC		0.527	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		6	67	0	0	0	0	6	67				
PCLO	27445	broad.mit.edu	37	7	82475906	82475906	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:82475906T>A	ENST00000333891.9	-	12	14145	c.13808A>T	c.(13807-13809)gAa>gTa	p.E4603V	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.E4603V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTCATGAAGTTCCAGATGCTG	0.338																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(13807-13809)GAA>GTA		piccolo isoform 1							74.0	65.0	68.0					7																	82475906		1796	4063	5859	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82475906T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13808A>T	7.37:g.82475906T>A	ENSP00000334319:p.Glu4603Val					PCLO_uc003uhv.2_Missense_Mutation_p.E4603V|PCLO_uc003uht.1_Missense_Mutation_p.E54V|PCLO_uc003uhu.1_Missense_Mutation_p.E33V	p.E4603V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			12	14097	-			4491						Missense_Mutation	SNP	ENST00000333891.9	37	c.13808A>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.884648	0.33255	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.18338	2.22;2.22	5.76	5.76	0.90799	.	.	.	.	.	T	0.30166	0.0756	L	0.51422	1.61	0.80722	D	1	P;D;D;D	0.64830	0.946;0.994;0.989;0.981	P;P;P;P	0.58266	0.545;0.761;0.836;0.69	T	0.02026	-1.1227	9	0.87932	D	0	.	11.1894	0.48677	0.1371:0.0:0.0:0.8629	.	4603;4603;33;100	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	V	4603;4603;99	ENSP00000334319:E4603V;ENSP00000388393:E4603V	ENSP00000334319:E4603V	E	-	2	0	PCLO	82313842	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.937000	0.70162	2.209000	0.71365	0.533000	0.62120	GAA		0.338	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		19	17	0	0	0	0	19	17				
RUNDC3B	154661	broad.mit.edu	37	7	87258202	87258202	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:87258202G>C	ENST00000338056.3	+	1	474	c.63G>C	c.(61-63)aaG>aaC	p.K21N	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.K21N|ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.K21N	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	21										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GAGGCGGCAAGAAAAGCCTGA	0.716																																						uc003ujb.2		NA																	0				skin(1)	1						c.(61-63)AAG>AAC		RUN domain containing 3B isoform a							15.0	17.0	16.0					7																	87258202		2178	4274	6452	SO:0001583	missense	154661							g.chr7:87258202G>C		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.63G>C	7.37:g.87258202G>C	ENSP00000337732:p.Lys21Asn					ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.K21N|RUNDC3B_uc011khe.1_Missense_Mutation_p.K21N|RUNDC3B_uc003ujc.2_Missense_Mutation_p.K21N	p.K21N	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			1	474	+	Esophageal squamous(14;0.00164)		21					B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.63G>C	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275947	0.59649	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.15139	2.46;2.45;2.46	4.23	4.23	0.50019	.	0.134517	0.46442	D	0.000291	T	0.11067	0.0270	N	0.14661	0.345	0.35193	D	0.773584	B;B;B;B	0.22414	0.028;0.028;0.048;0.069	B;B;B;B	0.27170	0.035;0.035;0.077;0.035	T	0.18209	-1.0344	10	0.32370	T	0.25	-5.4312	11.9844	0.53138	0.0:0.0:1.0:0.0	.	21;21;21;21	E9PBR4;B4DFD0;Q96NL0-4;Q96NL0	.;.;.;RUN3B_HUMAN	N	21	ENSP00000337732:K21N;ENSP00000420394:K21N;ENSP00000378149:K21N	ENSP00000337732:K21N	K	+	3	2	RUNDC3B	87096138	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.845000	0.55880	2.170000	0.68504	0.455000	0.32223	AAG		0.716	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		4	11	0	0	0	0	4	11				
CYP3A7	1551	broad.mit.edu	37	7	99306662	99306662	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:99306662C>T	ENST00000336374.2	-	11	1251	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	417					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TCCTACCTTTCAGGGAGGAAC	0.512																																						uc003uru.2		NA																	0				ovary(1)	1						c.(1249-1251)GAA>AAA		cytochrome P450, family 3, subfamily A,							104.0	107.0	106.0					7																	99306662		2203	4300	6503	SO:0001583	missense	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99306662C>T	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.1249G>A	7.37:g.99306662C>T	ENSP00000337450:p.Glu417Lys					ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.E417K	NM_000765	NP_000756	P24462	CP3A7_HUMAN			11	1354	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		417					A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	c.1249G>A	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	c	15.36	2.811767	0.50527	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.74209	-0.82	3.46	2.53	0.30540	.	0.049177	0.85682	D	0.000000	D	0.91178	0.7221	H	0.99732	4.735	0.58432	D	0.999991	D	0.67145	0.996	D	0.71656	0.974	D	0.91426	0.5162	10	0.87932	D	0	.	10.354	0.43954	0.0:0.7968:0.2032:0.0	.	417	P24462	CP3A7_HUMAN	K	417	ENSP00000337450:E417K	ENSP00000292414:E417K	E	-	1	0	CYP3A7	99144598	1.000000	0.71417	0.992000	0.48379	0.135000	0.20990	5.722000	0.68485	0.510000	0.28216	0.305000	0.20034	GAA		0.512	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			18	89	0	0	0	0	18	89				
MUC17	140453	broad.mit.edu	37	7	100676630	100676630	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:100676630G>C	ENST00000306151.4	+	3	1997	c.1933G>C	c.(1933-1935)Gag>Cag	p.E645Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	645	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.483																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(1933-1935)GAG>CAG		mucin 17 precursor							276.0	281.0	279.0					7																	100676630		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676630G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1933G>C	7.37:g.100676630G>C	ENSP00000302716:p.Glu645Gln					MUC17_uc010lho.1_RNA	p.E645Q	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	1986	+	Lung NSC(181;0.136)|all_lung(186;0.182)		645			Extracellular (Potential).|8.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1933G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.463	-0.888201	0.02511	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	0.512	0.512	0.16994	.	.	.	.	.	T	0.01489	0.0048	N	0.24115	0.695	0.09310	N	1	P	0.47604	0.898	B	0.31686	0.134	T	0.49615	-0.8921	8	0.15499	T	0.54	.	.	.	.	.	645	Q685J3	MUC17_HUMAN	Q	645	ENSP00000302716:E645Q	ENSP00000302716:E645Q	E	+	1	0	MUC17	100463350	0.001000	0.12720	0.003000	0.11579	0.003000	0.03518	0.195000	0.17155	0.551000	0.29008	0.134000	0.15878	GAG		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		115	469	0	0	0	0	115	469				
C7orf66	154907	broad.mit.edu	37	7	108524578	108524578	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:108524578C>G	ENST00000379007.2	-	1	66	c.12G>C	c.(10-12)gtG>gtC	p.V4V		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	4						integral component of membrane (GO:0016021)		p.V4V(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TGGGTGTCATCACAGCCATCA	0.413																																						uc003vfo.2		NA																	1	Substitution - coding silent(1)		breast(1)	ovary(2)	2						c.(10-12)GTG>GTC		hypothetical protein LOC154907							161.0	127.0	138.0					7																	108524578		2203	4300	6503	SO:0001819	synonymous_variant	154907					integral to membrane		g.chr7:108524578C>G	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.12G>C	7.37:g.108524578C>G							p.V4V	NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN			1	60	-			4						Silent	SNP	ENST00000379007.2	37	c.12G>C	CCDS34735.1																																																																																				0.413	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		3	54	0	0	0	0	3	54				
CPED1	79974	broad.mit.edu	37	7	120764400	120764400	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:120764400G>C	ENST00000310396.5	+	8	1401	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	CPED1_ENST00000450913.2_Missense_Mutation_p.E312Q|CPED1_ENST00000423795.1_Missense_Mutation_p.E92Q	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	312						endoplasmic reticulum (GO:0005783)											AACATTTTTTGAGACATTCCT	0.393																																						uc003vjq.3		NA																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(934-936)GAG>CAG		hypothetical protein LOC79974 isoform 1							117.0	115.0	115.0					7																	120764400		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120764400G>C		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.934G>C	7.37:g.120764400G>C	ENSP00000309772:p.Glu312Gln					C7orf58_uc003vjr.1_Missense_Mutation_p.E312Q|C7orf58_uc003vjs.3_Missense_Mutation_p.E312Q|C7orf58_uc003vjt.3_Missense_Mutation_p.E92Q|C7orf58_uc010lkk.1_Missense_Mutation_p.E92Q	p.E312Q	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			8	1381	+	all_neural(327;0.117)		312					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.934G>C	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036950	0.75617	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.08	5.08	0.68730	.	0.319279	0.34200	N	0.004179	T	0.59662	0.2210	M	0.62723	1.935	0.80722	D	1	D;D;D	0.67145	0.996;0.981;0.994	P;P;P	0.59357	0.856;0.789;0.783	T	0.62609	-0.6818	10	0.62326	D	0.03	.	18.4275	0.90614	0.0:0.0:1.0:0.0	.	92;312;312	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	Q	312;312;312;92;92	ENSP00000309772:E312Q;ENSP00000398082:E312Q;ENSP00000406122:E312Q;ENSP00000415573:E92Q;ENSP00000391952:E92Q	ENSP00000309772:E312Q	E	+	1	0	C7orf58	120551636	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.316000	0.72857	2.519000	0.84933	0.591000	0.81541	GAG		0.393	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		16	53	0	0	0	0	16	53				
FSCN3	29999	broad.mit.edu	37	7	127240328	127240328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:127240328G>A	ENST00000265825.5	+	6	1591	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	FSCN3_ENST00000420086.2_Missense_Mutation_p.R322Q	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	458						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTTCTGTATCGAGCTTCAGGG	0.537																																						uc003vmd.1		NA																	0				ovary(1)	1						c.(1372-1374)GAG>AAG		fascin 3							86.0	74.0	78.0					7																	127240328		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127240328G>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1372G>A	7.37:g.127240328G>A	ENSP00000265825:p.Glu458Lys					FSCN3_uc011koh.1_Missense_Mutation_p.R322Q|FSCN3_uc010llc.1_Missense_Mutation_p.R456Q	p.E458K	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN			6	1591	+			458					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.1372G>A	CCDS34746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.43|13.43	2.235985|2.235985	0.39498|0.39498	.|.	.|.	ENSG00000106328|ENSG00000106328	ENST00000265825|ENST00000420086	T|T	0.52057|0.46451	0.68|0.87	5.74|5.74	3.9|3.9	0.45041|0.45041	Actin cross-linking (1);|.	0.096379|.	0.45606|.	D|.	0.000353|.	T|T	0.32194|0.32194	0.0821|0.0821	L|L	0.36672|0.36672	1.1|1.1	0.22185|0.22185	N|N	0.999308|0.999308	D|B	0.58620|0.09022	0.983|0.002	B|B	0.42959|0.01281	0.403|0.0	T|T	0.22208|0.22208	-1.0223|-1.0223	10|9	0.59425|0.48119	D|T	0.04|0.1	-7.9897|-7.9897	7.8913|7.8913	0.29680|0.29680	0.0859:0.1616:0.7525:0.0|0.0859:0.1616:0.7525:0.0	.|.	458|322	Q9NQT6|B4DU68	FSCN3_HUMAN|.	K|Q	458|322	ENSP00000265825:E458K|ENSP00000412243:R322Q	ENSP00000265825:E458K|ENSP00000412243:R322Q	E|R	+|+	1|2	0|0	FSCN3|FSCN3	127027564|127027564	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.987000|0.987000	0.75469|0.75469	3.695000|3.695000	0.54749|0.54749	0.737000|0.737000	0.32582|0.32582	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.537	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		6	59	0	0	0	0	6	59				
LRGUK	136332	broad.mit.edu	37	7	133812362	133812362	+	Missense_Mutation	SNP	G	G	A	rs563421721		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:133812362G>A	ENST00000285928.2	+	1	311	c.242G>A	c.(241-243)gGc>gAc	p.G81D	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	81						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAGGACCAGGGCGAGGGCGAG	0.612																																						uc003vrm.1		NA																	0				lung(2)|skin(2)|kidney(1)	5						c.(241-243)GGC>GAC		leucine-rich repeats and guanylate kinase domain							83.0	80.0	81.0					7																	133812362		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133812362G>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.242G>A	7.37:g.133812362G>A	ENSP00000285928:p.Gly81Asp						p.G81D	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			1	258	+			81					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.242G>A	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	2.454	-0.325700	0.05350	.	.	ENSG00000155530	ENST00000285928	T	0.35605	1.3	3.11	-0.132	0.13489	.	1.126030	0.06853	N	0.797758	T	0.23846	0.0577	L	0.44542	1.39	0.09310	N	1	B	0.20052	0.041	B	0.19391	0.025	T	0.26916	-1.0089	10	0.12766	T	0.61	2.2937	1.0509	0.01579	0.1557:0.2202:0.399:0.225	.	81	Q96M69	LRGUK_HUMAN	D	81	ENSP00000285928:G81D	ENSP00000285928:G81D	G	+	2	0	LRGUK	133462902	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	-0.161000	0.10026	-0.037000	0.13646	-0.169000	0.13324	GGC		0.612	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		7	40	0	0	0	0	7	40				
KIAA1549	57670	broad.mit.edu	37	7	138603487	138603487	+	Silent	SNP	G	G	A	rs79934303	byFrequency	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:138603487G>A	ENST00000422774.1	-	2	933	c.885C>T	c.(883-885)gaC>gaT	p.D295D	KIAA1549_ENST00000440172.1_Silent_p.D295D|KIAA1549_ENST00000242365.4_Silent_p.D245D			Q9HCM3	K1549_HUMAN	KIAA1549	295						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TAGTAATGCCGTCGCCTAACG	0.537			O	BRAF	pilocytic astrocytoma								A|||	6	0.00119808	0.0045	0.0	5008	,	,		20364	0.0		0.0	False		,,,				2504	0.0				NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	0				central_nervous_system(229)|pancreas(1)	230						c.(883-885)GAC>GAT		hypothetical protein LOC57670 isoform 1		A	,	14,3772		0,14,1879	52.0	52.0	52.0		885,885	-1.2	0.0	7	dbSNP_132	52	0,8208		0,0,4104	no	coding-synonymous,coding-synonymous	KIAA1549	NM_001164665.1,NM_020910.2	,	0,14,5983	AA,AG,GG		0.0,0.3698,0.1167	,	295/1951,295/1935	138603487	14,11980	1893	4104	5997	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138603487G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.885C>T	7.37:g.138603487G>A						KIAA1549_uc003vuk.3_Silent_p.D245D|KIAA1549_uc011kqj.1_Silent_p.D295D	p.D295D	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	934	-			295					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.885C>T	CCDS56513.1																																																																																				0.537	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			16	54	0	0	0	0	16	54				
PARP12	64761	broad.mit.edu	37	7	139727113	139727113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:139727113G>A	ENST00000263549.3	-	10	2464	c.1591C>T	c.(1591-1593)Cga>Tga	p.R531*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	531	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCTGTACTCGCTCAATCTTC	0.537																																						uc003vvl.1		NA																	0				ovary(3)	3						c.(1591-1593)CGA>TGA		poly ADP-ribose polymerase 12							97.0	88.0	91.0					7																	139727113		2203	4300	6503	SO:0001587	stop_gained	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139727113G>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1591C>T	7.37:g.139727113G>A	ENSP00000263549:p.Arg531*					PARP12_uc003vvk.1_Nonsense_Mutation_p.R317*|PARP12_uc010lnf.1_RNA	p.R531*	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN			10	2465	-	Melanoma(164;0.0142)		531			PARP catalytic.		Q9H610|Q9NP36|Q9NTI3	Nonsense_Mutation	SNP	ENST00000263549.3	37	c.1591C>T	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	47	13.537700	0.99748	.	.	ENSG00000059378	ENST00000263549	.	.	.	5.6	3.59	0.41128	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0693	0.59050	0.0:0.0:0.592:0.408	.	.	.	.	X	531	.	ENSP00000263549:R531X	R	-	1	2	PARP12	139373582	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.868000	0.39509	1.335000	0.45486	0.655000	0.94253	CGA		0.537	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		5	42	0	0	0	0	5	42				
ADCK2	90956	broad.mit.edu	37	7	140373236	140373236	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:140373236G>T	ENST00000072869.4	+	1	284	c.106G>T	c.(106-108)Gat>Tat	p.D36Y	ADCK2_ENST00000476491.1_Missense_Mutation_p.D36Y	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	36						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GTGCCCTCGCGATGCCAGGCT	0.677																																						uc003vvy.1		NA																	0					0						c.(106-108)GAT>TAT		aarF domain containing kinase 2							11.0	11.0	11.0					7																	140373236		2184	4264	6448	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373236G>T	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.106G>T	7.37:g.140373236G>T	ENSP00000072869:p.Asp36Tyr					ADCK2_uc003vvz.2_Missense_Mutation_p.D36Y	p.D36Y	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN			1	284	+	Melanoma(164;0.00956)		36					Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.106G>T	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	g	11.06	1.527006	0.27299	.	.	ENSG00000133597	ENST00000072869;ENST00000476491	T;T	0.47177	0.85;0.85	3.85	-1.92	0.07618	.	0.624474	0.14108	N	0.340937	T	0.20901	0.0503	N	0.08118	0	0.09310	N	1	B;B	0.31485	0.325;0.206	B;B	0.20767	0.031;0.031	T	0.08146	-1.0736	10	0.62326	D	0.03	-23.2428	7.4566	0.27270	0.5278:0.3842:0.088:0.0	.	36;36	C9JE15;Q7Z695	.;ADCK2_HUMAN	Y	36	ENSP00000072869:D36Y;ENSP00000420512:D36Y	ENSP00000072869:D36Y	D	+	1	0	ADCK2	140019705	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.309000	0.08145	-0.565000	0.06061	-1.139000	0.01908	GAT		0.677	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		6	12	1	0	0.00116845	0.00188516	6	12				
KEL	3792	broad.mit.edu	37	7	142643301	142643301	+	Missense_Mutation	SNP	C	C	T	rs199731371		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:142643301C>T	ENST00000355265.2	-	11	1781	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	436					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TACAGCACTTCGGGTGCTCGG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18078	0.001		0.0	False		,,,				2504	0.0					uc003wcb.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1306-1308)CGA>CAA		Kell blood group, metallo-endopeptidase							64.0	58.0	60.0					7																	142643301		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142643301C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1307G>A	7.37:g.142643301C>T	ENSP00000347409:p.Arg436Gln						p.R436Q	NM_000420	NP_000411	P23276	KELL_HUMAN			11	1517	-	Melanoma(164;0.059)		436			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1307G>A	CCDS34766.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.947	0.744068	0.15710	.	.	ENSG00000197993	ENST00000355265	T	0.73681	-0.77	4.24	-8.49	0.00931	Peptidase M13 (1);	1.837240	0.03271	N	0.184806	T	0.49508	0.1561	N	0.02916	-0.46	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.47275	-0.9130	10	0.51188	T	0.08	0.5812	12.9737	0.58527	0.0:0.5482:0.0:0.4518	.	436	P23276	KELL_HUMAN	Q	436	ENSP00000347409:R436Q	ENSP00000347409:R436Q	R	-	2	0	KEL	142353423	0.000000	0.05858	0.070000	0.20053	0.248000	0.25809	-1.527000	0.02227	-1.473000	0.01881	-0.355000	0.07637	CGA		0.577	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		8	11	0	0	0	0	8	11				
CSMD1	64478	broad.mit.edu	37	8	3267046	3267046	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:3267046G>T	ENST00000520002.1	-	14	2201	c.1646C>A	c.(1645-1647)aCa>aAa	p.T549K	CSMD1_ENST00000602723.1_Missense_Mutation_p.T549K|CSMD1_ENST00000537824.1_Missense_Mutation_p.T548K|CSMD1_ENST00000400186.3_Missense_Mutation_p.T549K|CSMD1_ENST00000539096.1_Missense_Mutation_p.T548K|CSMD1_ENST00000542608.1_Missense_Mutation_p.T548K|CSMD1_ENST00000602557.1_Missense_Mutation_p.T549K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	549	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGGTGAGTGTATCTCCATG	0.527																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(1645-1647)ACA>AAA		CUB and Sushi multiple domains 1 precursor							40.0	41.0	41.0					8																	3267046		1896	4120	6016	SO:0001583	missense	64478					integral to membrane		g.chr8:3267046G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1646C>A	8.37:g.3267046G>T	ENSP00000430733:p.Thr549Lys					CSMD1_uc011kwj.1_5'UTR	p.T549K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	13	2036	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	549			Extracellular (Potential).|Sushi 3.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.1646C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.177|9.177	1.022518|1.022518	0.19433|0.19433	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.63096|.	-0.02;-0.02;-0.02;-0.02;-0.02|.	5.26|5.26	4.38|4.38	0.52667|0.52667	.|.	0.429436|.	0.23204|.	N|.	0.050753|.	T|.	0.38026|.	0.1025|.	L|L	0.37507|0.37507	1.11|1.11	0.09310|0.09310	N|N	1|1	D|.	0.69078|.	0.997|.	D|.	0.83275|.	0.996|.	T|.	0.21211|.	-1.0252|.	10|.	0.12430|.	T|.	0.62|.	.|.	10.35|10.35	0.43929|0.43929	0.1511:0.0:0.8489:0.0|0.1511:0.0:0.8489:0.0	.|.	549|.	E5RIG2|.	.|.	K|X	549;549;411;548;548;548|28	ENSP00000383047:T549K;ENSP00000430733:T549K;ENSP00000441462:T548K;ENSP00000446243:T548K;ENSP00000441675:T548K|.	ENSP00000320445:T411K|.	T|Y	-|-	2|3	0|2	CSMD1|CSMD1	3254454|3254454	0.992000|0.992000	0.36948|0.36948	0.015000|0.015000	0.15790|0.15790	0.414000|0.414000	0.31173|0.31173	2.601000|2.601000	0.46249|0.46249	1.204000|1.204000	0.43247|0.43247	0.573000|0.573000	0.79308|0.79308	ACA|TAC		0.527	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	5	1	0	0.000602214	0.000976066	4	5				
DEFA4	1669	broad.mit.edu	37	8	6794410	6794410	+	Missense_Mutation	SNP	G	G	C	rs61749084		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:6794410G>C	ENST00000297435.2	-	2	136	c.12C>G	c.(10-12)atC>atG	p.I4M		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	4					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)		p.I4I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CGAGGAGGGCGATAATCCTCA	0.622																																						uc003wqu.1		NA																	1	Substitution - coding silent(1)		skin(1)	large_intestine(1)	1						c.(10-12)ATC>ATG		defensin, alpha 4 preproprotein							38.0	35.0	36.0					8																	6794410		2203	4300	6503	SO:0001583	missense	1669				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6794410G>C	X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"""Defensins, alpha"""	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.12C>G	8.37:g.6794410G>C	ENSP00000297435:p.Ile4Met						p.I4M	NM_001925	NP_001916	P12838	DEF4_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	2	63	-			4					Q6EZF8	Missense_Mutation	SNP	ENST00000297435.2	37	c.12C>G	CCDS5961.1	.	.	.	.	.	.	.	.	.	.	.	4.093	0.015347	0.07959	.	.	ENSG00000164821	ENST00000297435	T	0.32023	1.47	1.66	-3.33	0.04958	Defensin propeptide (1);	1.126980	0.07121	N	0.843833	T	0.19886	0.0478	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.28138	-1.0053	9	0.72032	D	0.01	.	3.8278	0.08861	0.3319:0.1858:0.4823:0.0	.	4	P12838	DEF4_HUMAN	M	4	ENSP00000297435:I4M	ENSP00000297435:I4M	I	-	3	3	DEFA4	6781820	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.225000	0.17757	-1.349000	0.02202	-1.292000	0.01352	ATC		0.622	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	NM_001925		4	9	0	0	0	0	4	9				
KIF13B	23303	broad.mit.edu	37	8	28974435	28974435	+	Silent	SNP	G	G	A	rs375598915		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:28974435G>A	ENST00000524189.1	-	31	3788	c.3750C>T	c.(3748-3750)atC>atT	p.I1250I	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1250					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCACGCGCACGATCAGGAACA	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18298	0.0		0.0	False		,,,				2504	0.0					uc003xhh.3		NA																	0					0						c.(3748-3750)ATC>ATT		kinesin family member 13B		G		1,4203		0,1,2101	66.0	72.0	70.0		3750	-2.5	1.0	8		70	0,8452		0,0,4226	no	coding-synonymous	KIF13B	NM_015254.3		0,1,6327	AA,AG,GG		0.0,0.0238,0.0079		1250/1827	28974435	1,12655	2102	4226	6328	SO:0001819	synonymous_variant	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28974435G>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3750C>T	8.37:g.28974435G>A						uc003xhi.1_Intron	p.I1250I	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	31	3809	-		Ovarian(32;0.000536)	1250					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	c.3750C>T	CCDS55217.1																																																																																				0.602	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			26	63	0	0	0	0	26	63				
IKBKB	3551	broad.mit.edu	37	8	42179657	42179657	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:42179657C>G	ENST00000520810.1	+	18	2010	c.1824C>G	c.(1822-1824)atC>atG	p.I608M	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.I385M|IKBKB_ENST00000520835.1_Missense_Mutation_p.I606M|IKBKB_ENST00000416505.2_Missense_Mutation_p.I549M	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	608					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TGCGAGTGATCTATACGCAGC	0.557																																						uc003xow.1		NA																	0				breast(3)|ovary(2)|lung(1)|skin(1)	7						c.(1822-1824)ATC>ATG		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						91.0	92.0	92.0					8																	42179657		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42179657C>G	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1824C>G	8.37:g.42179657C>G	ENSP00000430684:p.Ile608Met					IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.I385M|IKBKB_uc003xox.1_Missense_Mutation_p.I329M|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.I606M|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.I549M	p.I608M	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		18	2001	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	608					B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.1824C>G	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286628	0.40494	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.61	1.99	0.26369	.	0.053538	0.64402	D	0.000001	T	0.36717	0.0977	L	0.51422	1.61	0.38206	D	0.940329	P;B;D;B	0.71674	0.949;0.371;0.998;0.255	P;B;D;B	0.78314	0.621;0.217;0.991;0.155	T	0.24476	-1.0159	10	0.66056	D	0.02	.	4.0111	0.09623	0.1438:0.2542:0.0:0.602	.	549;606;385;608	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	M	608;549;606;385	ENSP00000430684:I608M;ENSP00000404920:I549M;ENSP00000430868:I606M;ENSP00000369030:I385M	ENSP00000369030:I385M	I	+	3	3	IKBKB	42298814	0.999000	0.42202	0.976000	0.42696	0.929000	0.56500	0.500000	0.22562	0.100000	0.17581	0.655000	0.94253	ATC		0.557	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			8	63	0	0	0	0	8	63				
MOS	4342	broad.mit.edu	37	8	57025647	57025648	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:57025647_57025648GG>AA	ENST00000311923.1	-	1	893_894	c.894_895CC>TT	c.(892-897)tcCCtc>tcTTtc	p.L299F		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCAGCGGAGAGGGACGGGCGCA	0.683																																					Esophageal Squamous(124;373 2870 4778)	uc011leb.1		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(892-897)TCCCTC>TCTTTC		v-mos Moloney murine sarcoma viral oncogene																																				SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025647_57025648GG>AA		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.894_895delinsAA	8.37:g.57025647_57025648delinsAA	ENSP00000310722:p.Leu299Phe						p.L299F	NM_005372	NP_005363	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	894_895	-			299			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	DNP	ENST00000311923.1	37	c.894_895CC>TT	CCDS6164.1																																																																																				0.683	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		9	31	0	0	0	0	9	31				
MYBL1	4603	broad.mit.edu	37	8	67514655	67514655	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:67514655C>T	ENST00000522677.3	-	2	534	c.124G>A	c.(124-126)Gag>Aag	p.E42K	MYBL1_ENST00000517885.1_Missense_Mutation_p.E42K|MYBL1_ENST00000524176.2_Missense_Mutation_p.E42K	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	42	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ATAATTACCTCGTCCCTTGTC	0.408																																						uc003xwj.2		NA																	0				ovary(2)|pancreas(1)	3						c.(124-126)GAG>AAG		v-myb myeloblastosis viral oncogene homolog							167.0	158.0	161.0					8																	67514655		1867	4097	5964	SO:0001583	missense	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67514655C>T	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.124G>A	8.37:g.67514655C>T	ENSP00000429633:p.Glu42Lys					MYBL1_uc003xwl.2_Missense_Mutation_p.E42K|MYBL1_uc003xwk.2_Missense_Mutation_p.E42K	p.E42K	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		2	531	-			42			HTH myb-type 1.		E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	c.124G>A	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982688	0.93044	.	.	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	T;T;T	0.47869	1.93;0.83;1.47	5.42	5.42	0.78866	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.050338	0.85682	D	0.000000	T	0.81153	0.4763	H	0.97682	4.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.979;0.996;0.967	D	0.88043	0.2782	10	0.87932	D	0	-12.8963	19.2042	0.93723	0.0:1.0:0.0:0.0	.	42;42;42	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	K	42	ENSP00000429633:E42K;ENSP00000428265:E42K;ENSP00000428011:E42K	ENSP00000428265:E42K	E	-	1	0	MYBL1	67677209	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	6.761000	0.74945	2.510000	0.84645	0.563000	0.77884	GAG		0.408	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		16	45	0	0	0	0	16	45				
CSPP1	79848	broad.mit.edu	37	8	68007843	68007843	+	Missense_Mutation	SNP	C	C	T	rs114953032	byFrequency	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:68007843C>T	ENST00000262210.5	+	6	857	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	311					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TAATGAGGATCGTGTTTTTGA	0.373													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17388	0.0		0.0	False		,,,				2504	0.0					uc003xxi.2		NA																	0				ovary(3)|breast(2)	5						c.(931-933)CGT>TGT		centrosome spindle pole associated protein 1							65.0	59.0	61.0					8																	68007843		1839	4093	5932	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68007843C>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.826C>T	8.37:g.68007843C>T	ENSP00000262210:p.Arg276Cys					CSPP1_uc003xxg.1_Missense_Mutation_p.R303C|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.R276C|CSPP1_uc003xxk.2_5'UTR	p.R311C	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		8	962	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	311					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.931C>T	CCDS43744.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.662	0.900881	0.17686	.	.	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.79141	-1.24	5.87	2.15	0.27550	.	0.504965	0.14024	U	0.346631	T	0.64713	0.2623	L	0.36672	1.1	0.19300	N	0.99997	B;B;B	0.13145	0.007;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.53823	-0.8384	10	0.45353	T	0.12	-0.2148	5.7236	0.18000	0.0:0.496:0.2244:0.2796	.	276;311;311	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	C	276;311	ENSP00000262210:R276C	ENSP00000262210:R276C	R	+	1	0	CSPP1	68170397	0.002000	0.14202	0.100000	0.21137	0.739000	0.42172	-0.174000	0.09839	0.410000	0.25675	-0.827000	0.03088	CGT		0.373	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		6	34	0	0	0	0	6	34				
PRDM14	63978	broad.mit.edu	37	8	70964454	70964454	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:70964454G>C	ENST00000276594.2	-	8	1775	c.1574C>G	c.(1573-1575)tCt>tGt	p.S525C		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	525					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGATGCAAAAGATTTACCACA	0.517																																					NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2		NA																	0				ovary(3)	3						c.(1573-1575)TCT>TGT		PR domain containing 14							160.0	149.0	153.0					8																	70964454		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70964454G>C	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1574C>G	8.37:g.70964454G>C	ENSP00000276594:p.Ser525Cys						p.S525C	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		8	1776	-	Breast(64;0.193)		525			C2H2-type 5.		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1574C>G	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024658	0.54683	.	.	ENSG00000147596	ENST00000276594	T	0.19806	2.12	5.95	5.08	0.68730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.125057	0.52532	D	0.000077	T	0.23210	0.0561	L	0.43152	1.355	0.37337	D	0.910236	B	0.18461	0.028	B	0.19666	0.026	T	0.07046	-1.0793	10	0.66056	D	0.02	-10.3171	17.3411	0.87296	0.0:0.1249:0.8751:0.0	.	525	Q9GZV8	PRD14_HUMAN	C	525	ENSP00000276594:S525C	ENSP00000276594:S525C	S	-	2	0	PRDM14	71127008	1.000000	0.71417	0.443000	0.26883	0.953000	0.61014	6.247000	0.72411	1.515000	0.48885	0.563000	0.77884	TCT		0.517	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			19	121	0	0	0	0	19	121				
ZFHX4	79776	broad.mit.edu	37	8	77775694	77775694	+	Silent	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:77775694T>C	ENST00000521891.2	+	11	10192	c.9744T>C	c.(9742-9744)aaT>aaC	p.N3248N	ZFHX4_ENST00000050961.6_Silent_p.N3199N|ZFHX4_ENST00000518282.1_Silent_p.N3222N|ZFHX4_ENST00000455469.2_Silent_p.N3203N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATTACAGAATGCAATTGCTG	0.443										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9607-9609)AAT>AAC		zinc finger homeodomain 4							164.0	156.0	158.0					8																	77775694		1894	4122	6016	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775694T>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9744T>C	8.37:g.77775694T>C		HNSCC(33;0.089)					p.N3203N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	9996	+			3199					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.9609T>C	CCDS47878.2																																																																																				0.443	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		39	134	0	0	0	0	39	134				
CNGB3	54714	broad.mit.edu	37	8	87645041	87645041	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:87645041A>G	ENST00000320005.5	-	11	1306	c.1259T>C	c.(1258-1260)aTt>aCt	p.I420T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	420					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTGAAAAACAATTTCAAATAA	0.353																																						uc003ydx.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1258-1260)ATT>ACT		cyclic nucleotide gated channel beta 3							58.0	59.0	59.0					8																	87645041		2203	4299	6502	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87645041A>G	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1259T>C	8.37:g.87645041A>G	ENSP00000316605:p.Ile420Thr					CNGB3_uc010maj.2_Missense_Mutation_p.I282T	p.I420T	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			11	1305	-			420			Helical; Name=H5; (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1259T>C	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268266	0.80469	.	.	ENSG00000170289	ENST00000320005	D	0.97505	-4.41	5.12	5.12	0.69794	.	0.055757	0.64402	D	0.000002	D	0.98337	0.9448	M	0.82517	2.595	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.75020	0.974;0.985	D	0.99421	1.0933	10	0.72032	D	0.01	.	15.2136	0.73247	1.0:0.0:0.0:0.0	.	420;420	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	T	420	ENSP00000316605:I420T	ENSP00000316605:I420T	I	-	2	0	CNGB3	87714157	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.287000	0.72671	2.056000	0.61249	0.482000	0.46254	ATT		0.353	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		14	19	0	0	0	0	14	19				
CNGB3	54714	broad.mit.edu	37	8	87738776	87738776	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:87738776C>T	ENST00000320005.5	-	3	368	c.321G>A	c.(319-321)ggG>ggA	p.G107G	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	107			G -> R (in ACHM3; unknown pathological significance; dbSNP:rs146688972). {ECO:0000269|PubMed:15712225}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GACCTTCTTTCCCGGGGTCCA	0.453																																						uc003ydx.2		NA																	0				ovary(2)|pancreas(1)	3						c.(319-321)GGG>GGA		cyclic nucleotide gated channel beta 3							286.0	267.0	273.0					8																	87738776		2203	4300	6503	SO:0001819	synonymous_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87738776C>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.321G>A	8.37:g.87738776C>T							p.G107G	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			3	367	-			107		G -> R (in ACHM3; uncertain pathogenicity).	Cytoplasmic (Potential).		C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	37	c.321G>A	CCDS6244.1																																																																																				0.453	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		64	241	0	0	0	0	64	241				
OSGIN2	734	broad.mit.edu	37	8	90937360	90937360	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:90937360C>T	ENST00000297438.2	+	6	1473	c.1118C>T	c.(1117-1119)tCt>tTt	p.S373F	OSGIN2_ENST00000451899.2_Missense_Mutation_p.S417F	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	373					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AATCTTTTATCTGATTATACC	0.358																																						uc003yeg.2		NA																	0					0						c.(1117-1119)TCT>TTT		oxidative stress induced growth inhibitor family							119.0	126.0	124.0					8																	90937360		2201	4300	6501	SO:0001583	missense	734				germ cell development|meiosis			g.chr8:90937360C>T	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.1118C>T	8.37:g.90937360C>T	ENSP00000297438:p.Ser373Phe					OSGIN2_uc003yeh.2_Missense_Mutation_p.S417F	p.S373F	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		6	1464	+			373						Missense_Mutation	SNP	ENST00000297438.2	37	c.1118C>T	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833987	0.71373	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.33654	1.4;1.4	5.36	5.36	0.76844	.	0.154383	0.64402	D	0.000011	T	0.54679	0.1873	L	0.53249	1.67	0.80722	D	1	D;D	0.67145	0.996;0.98	P;P	0.61201	0.885;0.547	T	0.55566	-0.8121	10	0.62326	D	0.03	-12.4778	19.0965	0.93253	0.0:1.0:0.0:0.0	.	417;373	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	F	373;417	ENSP00000297438:S373F;ENSP00000396445:S417F	ENSP00000297438:S373F	S	+	2	0	OSGIN2	91006535	0.986000	0.35501	0.995000	0.50966	0.955000	0.61496	5.638000	0.67861	2.522000	0.85027	0.563000	0.77884	TCT		0.358	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		14	152	0	0	0	0	14	152				
CSMD3	114788	broad.mit.edu	37	8	113364752	113364752	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:113364752C>A	ENST00000297405.5	-	39	6392	c.6148G>T	c.(6148-6150)Gat>Tat	p.D2050Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.D2010Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1980Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1946Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2050	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGACAGGAATCCAAACCAATT	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6148-6150)GAT>TAT		CUB and Sushi multiple domains 3 isoform 1							100.0	97.0	98.0					8																	113364752		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113364752C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6148G>T	8.37:g.113364752C>A	ENSP00000297405:p.Asp2050Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.D1252Y|CSMD3_uc003ynt.2_Missense_Mutation_p.D2010Y|CSMD3_uc011lhx.1_Missense_Mutation_p.D1946Y	p.D2050Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			39	6307	-			2050			Extracellular (Potential).|Sushi 11.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6148G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858232	0.71834	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.28255	1.95;1.93;1.97;1.62;1.96	4.82	4.82	0.62117	Complement control module (1);Sushi/SCR/CCP (1);	0.067403	0.56097	D	0.000024	T	0.54711	0.1875	M	0.67397	2.05	0.52099	D	0.999949	D;P;D	0.67145	0.996;0.592;0.98	D;B;P	0.70016	0.967;0.102;0.689	T	0.56390	-0.7987	10	0.59425	D	0.04	.	18.4564	0.90722	0.0:1.0:0.0:0.0	.	1946;2050;2010	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	2010;2050;1320;1946;1980	ENSP00000345799:D2010Y;ENSP00000297405:D2050Y;ENSP00000341558:D1320Y;ENSP00000412263:D1946Y;ENSP00000343124:D1980Y	ENSP00000297405:D2050Y	D	-	1	0	CSMD3	113433928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.779000	0.62375	2.666000	0.90696	0.650000	0.86243	GAT		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		10	70	1	0	2.18e-05	3.62e-05	10	70				
ZFAT	57623	broad.mit.edu	37	8	135612760	135612760	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:135612760C>T	ENST00000377838.3	-	7	2568	c.2394G>A	c.(2392-2394)ctG>ctA	p.L798L	ZFAT_ENST00000520356.1_Silent_p.L786L|ZFAT_ENST00000520727.1_Silent_p.L786L|ZFAT_ENST00000429442.2_Silent_p.L786L|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Silent_p.L786L|ZFAT_ENST00000523399.1_Silent_p.L736L	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	798					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGGGACACTTCAGCAAGATGT	0.438																																						uc003yup.2		NA																	0				central_nervous_system(1)	1						c.(2392-2394)CTG>CTA		zinc finger protein 406 isoform ZFAT-1							182.0	178.0	179.0					8																	135612760		1968	4153	6121	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135612760C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2394G>A	8.37:g.135612760C>T						ZFAT_uc003yun.2_Silent_p.L786L|ZFAT_uc003yuo.2_Silent_p.L786L|ZFAT_uc010meh.2_Silent_p.L786L|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.L786L|ZFAT_uc010mej.2_Silent_p.L736L|ZFAT_uc003yur.2_Silent_p.L786L|ZFATAS_uc003yus.1_RNA	p.L798L	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	2569	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		798			C2H2-type 12.		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.2394G>A	CCDS47924.1																																																																																				0.438	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		26	109	0	0	0	0	26	109				
RHPN1	114822	broad.mit.edu	37	8	144464817	144464817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:144464817C>T	ENST00000289013.6	+	15	2110	c.2009C>T	c.(2008-2010)cCg>cTg	p.P670L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	695					signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)	p.P670Q(2)		endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CCAGGGTGGCCGTGAGGGCCA	0.687																																						uc003yyb.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(2008-2010)CCG>CTG		rhophilin 1							21.0	27.0	25.0					8																	144464817		2099	4204	6303	SO:0001583	missense	114822				signal transduction	intracellular		g.chr8:144464817C>T	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.2009C>T	8.37:g.144464817C>T	ENSP00000289013:p.Pro670Leu						p.P670L	NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		15	2142	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		695					Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	c.2009C>T	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795699	0.31777	.	.	ENSG00000158106	ENST00000289013	T	0.53206	0.63	3.09	-6.18	0.02085	.	.	.	.	.	T	0.20007	0.0481	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16100	-1.0414	9	0.87932	D	0	.	1.4322	0.02336	0.2614:0.3317:0.2395:0.1674	.	670	Q8TCX5-2	.	L	670	ENSP00000289013:P670L	ENSP00000289013:P670L	P	+	2	0	RHPN1	144535960	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.924000	0.00090	-2.572000	0.00467	-1.149000	0.01842	CCG		0.687	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			16	14	0	0	0	0	16	14				
PLEC	5339	broad.mit.edu	37	8	144996395	144996395	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:144996395C>G	ENST00000322810.4	-	32	8174	c.8005G>C	c.(8005-8007)Gag>Cag	p.E2669Q	PLEC_ENST00000527096.1_Missense_Mutation_p.E2555Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2500Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2559Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2532Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2536Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2518Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2510Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2532Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2669	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						tgctgctCCTCACGCAGCTGC	0.672																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(8005-8007)GAG>CAG		plectin isoform 1							10.0	11.0	11.0					8																	144996395		2188	4285	6473	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144996395C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8005G>C	8.37:g.144996395C>G	ENSP00000323856:p.Glu2669Gln					PLEC_uc003zab.1_Missense_Mutation_p.E2532Q|PLEC_uc003zac.1_Missense_Mutation_p.E2536Q|PLEC_uc003zad.2_Missense_Mutation_p.E2532Q|PLEC_uc003zae.1_Missense_Mutation_p.E2500Q|PLEC_uc003zag.1_Missense_Mutation_p.E2510Q|PLEC_uc003zah.2_Missense_Mutation_p.E2518Q|PLEC_uc003zaj.2_Missense_Mutation_p.E2559Q	p.E2669Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	8175	-			2669			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8005G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	c	12.63	1.994825	0.35226	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;D;D;T;T;T;T;T	0.81579	-1.48;-1.48;-1.51;-1.51;-1.49;-1.48;-1.47;-1.48;-1.48	4.38	4.38	0.52667	.	0.274300	0.28176	U	0.016314	T	0.70193	0.3196	N	0.22421	0.69	0.32252	N	0.571335	B;B;B;B;B;B;B;B	0.22003	0.063;0.037;0.037;0.038;0.037;0.037;0.063;0.063	B;B;B;B;B;B;B;B	0.18561	0.022;0.022;0.022;0.01;0.022;0.022;0.022;0.022	T	0.71464	-0.4585	10	0.35671	T	0.21	.	16.7261	0.85422	0.0:1.0:0.0:0.0	.	2559;2518;2510;2669;2500;2532;2536;2532	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	2532;2536;2532;2500;2669;2510;2518;2559;2555	ENSP00000344848:E2532Q;ENSP00000350277:E2536Q;ENSP00000346602:E2532Q;ENSP00000381756:E2500Q;ENSP00000323856:E2669Q;ENSP00000347044:E2510Q;ENSP00000348702:E2518Q;ENSP00000388180:E2559Q;ENSP00000434583:E2555Q	ENSP00000323856:E2669Q	E	-	1	0	PLEC	145068383	0.963000	0.33076	0.966000	0.40874	0.971000	0.66376	5.586000	0.67503	2.289000	0.77006	0.443000	0.29094	GAG		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	12	0	0	0	0	3	12				
PSIP1	11168	broad.mit.edu	37	9	15469058	15469058	+	Splice_Site	SNP	T	T	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:15469058T>C	ENST00000380733.4	-	13	1448		c.e13-2		PSIP1_ENST00000380738.4_Splice_Site			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTTCACATCCTTCATGACAAA	0.353																																						uc003zlv.3		NA																	0				breast(1)	1						c.e13-1		PC4 and SFRS1 interacting protein 1 isoform 2							77.0	70.0	72.0					9																	15469058		2203	4300	6503	SO:0001630	splice_region_variant	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15469058T>C	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1105-2A>G	9.37:g.15469058T>C						PSIP1_uc003zlw.3_Splice_Site_p.D369_splice	p.D369_splice	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	13	1435	-								D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Splice_Site	SNP	ENST00000380733.4	37	c.1105_splice	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903138	0.72754	.	.	ENSG00000164985	ENST00000380733;ENST00000380738	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.572	0.68218	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSIP1	15459058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.436000	0.66538	2.178000	0.69098	0.454000	0.30748	.		0.353	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222	Intron	11	18	0	0	0	0	11	18				
DCAF12	25853	broad.mit.edu	37	9	34098412	34098412	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:34098412G>C	ENST00000361264.4	-	5	1046	c.705C>G	c.(703-705)atC>atG	p.I235M	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	235					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CCTTGTGAGTGATGTGTGCAT	0.483																																						uc003ztt.2		NA																	0					0						c.(703-705)ATC>ATG		DDB1 and CUL4 associated factor 12							351.0	280.0	305.0					9																	34098412		2203	4300	6503	SO:0001583	missense	25853					centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34098412G>C	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.705C>G	9.37:g.34098412G>C	ENSP00000355114:p.Ile235Met						p.I235M	NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN			5	1047	-			235					A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	c.705C>G	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421592	0.62622	.	.	ENSG00000198876	ENST00000361264;ENST00000396990	T;T	0.63417	-0.03;-0.04	5.51	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74222	0.3688	M	0.76170	2.325	0.51012	D	0.999903	D	0.76494	0.999	D	0.69142	0.962	T	0.75445	-0.3315	10	0.62326	D	0.03	-7.9544	7.4364	0.27158	0.0848:0.0:0.7076:0.2076	.	235	Q5T6F0	DCA12_HUMAN	M	235;217	ENSP00000355114:I235M;ENSP00000380187:I217M	ENSP00000355114:I235M	I	-	3	3	DCAF12	34088412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.238000	0.32707	1.330000	0.45394	0.655000	0.94253	ATC		0.483	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397		7	108	0	0	0	0	7	108				
SPATA31E1	286234	broad.mit.edu	37	9	90502856	90502856	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:90502856A>G	ENST00000325643.5	+	4	3520	c.3454A>G	c.(3454-3456)Acc>Gcc	p.T1152A		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1152					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCTCTGTCCACCTCCCAGAG	0.642																																						uc004app.3		NA																	0				ovary(3)	3						c.(3454-3456)ACC>GCC		chromosome 9 open reading frame 79							37.0	43.0	41.0					9																	90502856		2203	4299	6502	SO:0001583	missense	286234					integral to membrane		g.chr9:90502856A>G	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3454A>G	9.37:g.90502856A>G	ENSP00000322640:p.Thr1152Ala						p.T1152A	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	3489	+			1152					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.3454A>G	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	a	0.009	-1.844002	0.00568	.	.	ENSG00000177992	ENST00000325643	T	0.03301	3.98	3.03	-6.07	0.02158	.	3.319870	0.01171	N	0.006865	T	0.02230	0.0069	N	0.14661	0.345	0.09310	N	1	B	0.25169	0.119	B	0.23018	0.043	T	0.37009	-0.9724	10	0.22706	T	0.39	.	4.2318	0.10606	0.1543:0.25:0.4826:0.113	.	1152	Q6ZUB1	CI079_HUMAN	A	1152	ENSP00000322640:T1152A	ENSP00000322640:T1152A	T	+	1	0	C9orf79	89692676	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.434000	0.02425	-2.607000	0.00447	-0.250000	0.11733	ACC		0.642	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		8	32	0	0	0	0	8	32				
CCDC180	100499483	broad.mit.edu	37	9	100136864	100136864	+	Missense_Mutation	SNP	G	G	A	rs374587265		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:100136864G>A	ENST00000357054.1	+	47	5542	c.4607G>A	c.(4606-4608)cGa>cAa	p.R1536Q	CCDC180_ENST00000529487.1_Missense_Mutation_p.R1591Q|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.R1591Q|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1536						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ATGCTCATACGAAGGAAACTC	0.507																																						uc011lut.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(5188-5190)CGA>CAA		hypothetical protein LOC57653		G	GLN/ARG	0,4406		0,0,2203	78.0	69.0	72.0		4772	4.0	1.0	9		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf174	NM_020893.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1591/1702	100136864	1,13005	2203	4300	6503	SO:0001583	missense	57653							g.chr9:100136864G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4607G>A	9.37:g.100136864G>A	ENSP00000349562:p.Arg1536Gln					KIAA1529_uc004axe.1_Missense_Mutation_p.R1536Q|KIAA1529_uc004axg.1_Missense_Mutation_p.R1591Q|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.R684Q	p.R1730Q	NM_020893	NP_065944					47	5962	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.5189G>A		.	.	.	.	.	.	.	.	.	.	G	17.63	3.437260	0.62955	0.0	1.16E-4	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.44482	0.92;0.92;0.92	3.99	3.99	0.46301	.	0.131595	0.49916	D	0.000126	T	0.60431	0.2268	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.79108	0.857;0.992	T	0.61705	-0.7008	10	0.52906	T	0.07	-21.6941	11.9238	0.52808	0.0:0.0:1.0:0.0	.	1730;1536	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	Q	1536;1591;1591	ENSP00000349562:R1536Q;ENSP00000364348:R1591Q;ENSP00000434727:R1591Q	ENSP00000349562:R1536Q	R	+	2	0	C9orf174	99176685	0.926000	0.31397	0.970000	0.41538	0.297000	0.27493	3.245000	0.51407	2.529000	0.85273	0.655000	0.94253	CGA		0.507	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		4	22	0	0	0	0	4	22				
SVEP1	79987	broad.mit.edu	37	9	113169482	113169482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:113169482C>G	ENST00000401783.2	-	38	8734	c.8398G>C	c.(8398-8400)Gag>Cag	p.E2800Q	SVEP1_ENST00000374469.1_Missense_Mutation_p.E2777Q|SVEP1_ENST00000297826.5_Missense_Mutation_p.E726Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2800	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGTCACACTCATAGTACAAC	0.483																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(8398-8400)GAG>CAG		polydom							146.0	144.0	145.0					9																	113169482		2049	4195	6244	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169482C>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8398G>C	9.37:g.113169482C>G	ENSP00000384917:p.Glu2800Gln					SVEP1_uc010mty.2_Missense_Mutation_p.E726Q	p.E2800Q	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	8735	-			2800			Sushi 23.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.8398G>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	6.628	0.484392	0.12641	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.65364	-0.15;-0.15;-0.15	5.47	3.5	0.40072	Complement control module (2);Sushi/SCR/CCP (3);	0.398886	0.28784	N	0.014160	T	0.41650	0.1168	N	0.26130	0.795	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.16748	-1.0392	10	0.12430	T	0.62	.	6.69	0.23165	0.1342:0.6661:0.1295:0.0702	.	2800	Q4LDE5	SVEP1_HUMAN	Q	2800;2777;726;472	ENSP00000384917:E2800Q;ENSP00000363593:E2777Q;ENSP00000297826:E726Q	ENSP00000297826:E726Q	E	-	1	0	SVEP1	112209303	0.025000	0.19082	0.998000	0.56505	0.856000	0.48823	1.169000	0.31871	1.428000	0.47296	0.591000	0.81541	GAG		0.483	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				76	52	0	0	0	0	76	52				
LAMC3	10319	broad.mit.edu	37	9	133957539	133957539	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:133957539G>C	ENST00000361069.4	+	24	4154	c.4021G>C	c.(4021-4023)Gat>Cat	p.D1341H	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1341	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCTGCTGGCTGATCTGGAAGG	0.617																																						uc004caa.1		NA																	0				ovary(2)|pancreas(1)	3						c.(4021-4023)GAT>CAT		laminin, gamma 3 precursor							43.0	37.0	39.0					9																	133957539		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133957539G>C	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4021G>C	9.37:g.133957539G>C	ENSP00000354360:p.Asp1341His					LAMC3_uc010mze.1_Missense_Mutation_p.D57H	p.D1341H	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	24	4119	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1341			Domain II and I.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.4021G>C	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583337	0.65992	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.28255	1.62	4.89	3.97	0.46021	.	0.443625	0.23939	N	0.043070	T	0.48519	0.1504	M	0.67953	2.075	0.34544	D	0.710612	D;P	0.76494	0.999;0.904	D;P	0.69479	0.964;0.615	T	0.60757	-0.7200	10	0.56958	D	0.05	.	9.6632	0.39967	0.1028:0.0:0.8972:0.0	.	50;1341	Q9UF61;Q9Y6N6	.;LAMC3_HUMAN	H	1341;1353	ENSP00000354360:D1341H	ENSP00000347156:D1353H	D	+	1	0	LAMC3	132947360	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.565000	0.45939	2.431000	0.82371	0.585000	0.79938	GAT		0.617	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		13	5	0	0	0	0	13	5				
STKLD1	169436	broad.mit.edu	37	9	136253248	136253248	+	Silent	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:136253248C>G	ENST00000371957.3	+	5	419	c.312C>G	c.(310-312)ctC>ctG	p.L104L	C9orf96_ENST00000371955.1_5'UTR|C9orf96_ENST00000426926.2_Silent_p.L104L	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTGTACCTCTGCCTGGTGA	0.572																																						uc004cdk.2		NA																	0				stomach(2)|central_nervous_system(2)	4						c.(310-312)CTC>CTG		hypothetical protein LOC169436							95.0	79.0	85.0					9																	136253248		2203	4300	6503	SO:0001819	synonymous_variant	169436						ATP binding|protein kinase activity	g.chr9:136253248C>G																												ENST00000371957.3:c.312C>G	9.37:g.136253248C>G						C9orf96_uc004cdl.2_RNA	p.L104L	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	5	373	+			104			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	ENST00000371957.3	37	c.312C>G	CCDS35169.1																																																																																				0.572	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			12	55	0	0	0	0	12	55				
PHPT1	29085	broad.mit.edu	37	9	139744530	139744530	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:139744530G>A	ENST00000247665.10	+	2	563	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	PHPT1_ENST00000545326.1_Missense_Mutation_p.G76S|PHPT1_ENST00000492540.1_3'UTR|MAMDC4_ENST00000317446.2_5'Flank|PHPT1_ENST00000371661.1_Missense_Mutation_p.G76S|MAMDC4_ENST00000445819.1_5'Flank	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	76					negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GTGTCTGGGCGGCGGGCGCAT	0.647																																						uc004cjp.2		NA																	0					0						c.(226-228)GGC>AGC		phosphohistidine phosphatase 1 isoform 3							101.0	97.0	99.0					9																	139744530		2203	4300	6503	SO:0001583	missense	29085					cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity	g.chr9:139744530G>A	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.226G>A	9.37:g.139744530G>A	ENSP00000247665:p.Gly76Ser					PHPT1_uc011mei.1_Missense_Mutation_p.G76S|PHPT1_uc004cjq.3_Missense_Mutation_p.G76S|MAMDC4_uc004cjs.2_5'Flank|MAMDC4_uc011mej.1_5'Flank	p.G76S	NM_014172	NP_054891	Q9NRX4	PHP14_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	3	848	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)	76					B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	37	c.226G>A	CCDS7009.1	.	.	.	.	.	.	.	.	.	.	.	32	5.169703	0.94768	.	.	ENSG00000054148	ENST00000371661;ENST00000545326;ENST00000247665	.	.	.	4.61	3.71	0.42584	.	.	.	.	.	D	0.85155	0.5632	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87509	0.2438	8	0.87932	D	0	0.1148	11.3845	0.49776	0.089:0.0:0.9109:0.0	.	76;76	Q9NRX4-2;Q9NRX4	.;PHP14_HUMAN	S	76	.	ENSP00000247665:G76S	G	+	1	0	PHPT1	138864351	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	5.975000	0.70475	0.920000	0.36970	0.455000	0.32223	GGC		0.647	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		47	20	0	0	0	0	47	20				
C8G	733	broad.mit.edu	37	9	139840948	139840948	+	Silent	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:139840948G>C	ENST00000224181.3	+	5	546	c.486G>C	c.(484-486)ctG>ctC	p.L162L	C8G_ENST00000465773.1_3'UTR|FBXW5_ENST00000325285.3_5'Flank|FBXW5_ENST00000483559.1_5'Flank	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	162					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	retinol binding (GO:0019841)			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		ACTCGGTCCTGAGTGGGTTTG	0.657																																						uc004cka.2		NA																	0					0						c.(484-486)CTG>CTC		complement component 8, gamma polypeptide							40.0	44.0	42.0					9																	139840948		2202	4300	6502	SO:0001819	synonymous_variant	733				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity	g.chr9:139840948G>C	X06465	CCDS7017.1	9q	2011-11-15			ENSG00000176919	ENSG00000176919		"""Complement system"", ""Lipocalins"""	1354	protein-coding gene	gene with protein product		120930					Standard	NM_000606		Approved		uc004cka.2	P07360	OTTHUMG00000020955	ENST00000224181.3:c.486G>C	9.37:g.139840948G>C						FBXW5_uc004cjx.2_5'Flank|FBXW5_uc004cjy.2_5'Flank|FBXW5_uc004cjz.2_5'Flank	p.L162L	NM_000606	NP_000597	P07360	CO8G_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)	5	561	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	162					Q14CT8|Q14CU0|Q5SQ07	Silent	SNP	ENST00000224181.3	37	c.486G>C	CCDS7017.1																																																																																				0.657	C8G-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055178.1			3	19	0	0	0	0	3	19				
RNF208	727800	broad.mit.edu	37	9	140115259	140115259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:140115259C>T	ENST00000392827.1	-	2	574	c.406G>A	c.(406-408)Gcg>Acg	p.A136T	RNF208_ENST00000391553.1_Missense_Mutation_p.A136T			Q9H0X6	RN208_HUMAN	ring finger protein 208	136					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCGCCTGCCGCCGCCGAAGAA	0.672																																						uc004clz.1		NA																	0					0						c.(406-408)GCG>ACG		ring finger protein 208							10.0	15.0	13.0					9																	140115259		2094	4160	6254	SO:0001583	missense	727800						zinc ion binding	g.chr9:140115259C>T	AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"""RING-type (C3HC4) zinc fingers"""	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.406G>A	9.37:g.140115259C>T	ENSP00000376572:p.Ala136Thr						p.A136T	NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	1	517	-	all_cancers(76;0.0926)		136					A2BFA0	Missense_Mutation	SNP	ENST00000392827.1	37	c.406G>A	CCDS7037.2	.	.	.	.	.	.	.	.	.	.	C	0.139	-1.104864	0.01828	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.31247	1.5;1.5	3.15	2.03	0.26663	Zinc finger, RING/FYVE/PHD-type (1);	11.342700	0.04603	U	0.398866	T	0.25865	0.0630	L	0.41906	1.305	0.09310	N	1	B	0.23185	0.081	B	0.28305	0.088	T	0.28554	-1.0040	10	0.07644	T	0.81	-10.2701	8.4505	0.32869	0.0:0.8594:0.0:0.1406	.	136	Q9H0X6	RN208_HUMAN	T	136	ENSP00000376572:A136T;ENSP00000375397:A136T	ENSP00000375397:A136T	A	-	1	0	RNF208	139235080	0.451000	0.25705	0.001000	0.08648	0.031000	0.12232	1.644000	0.37228	0.707000	0.31934	0.491000	0.48974	GCG		0.672	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		23	11	0	0	0	0	23	11				
ASMTL	8623	broad.mit.edu	37	X	1554652	1554652	+	Splice_Site	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:1554652C>T	ENST00000381317.3	-	4	306		c.e4-1		ASMTL_ENST00000416733.2_Intron|ASMTL_ENST00000381333.4_Splice_Site|ASMTL_ENST00000534940.1_Splice_Site|ASMTL_ENST00000463763.1_5'Flank	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like							cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCCGACTGTCTGTGAGAGGA	0.587																																						uc004cpx.1		NA																	0					0						c.e4-1		acetylserotonin O-methyltransferase-like							85.0	99.0	94.0					X																	1554652		1959	4121	6080	SO:0001630	splice_region_variant	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1554652C>T	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.274-1G>A	X.37:g.1554652C>T						ASMTL_uc011mhe.1_Intron|ASMTL_uc004cpy.1_Splice_Site_p.T76_splice|ASMTL_uc011mhf.1_Splice_Site_p.T34_splice	p.T92_splice	NM_004192	NP_004183	O95671	ASML_HUMAN			4	385	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)						B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Splice_Site	SNP	ENST00000381317.3	37	c.274_splice	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	C	8.145	0.786106	0.16189	.	.	ENSG00000169093	ENST00000534940;ENST00000381333;ENST00000381317	.	.	.	2.47	2.47	0.30058	.	.	.	.	.	.	.	.	.	.	.	0.21220	N	0.999758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1516	0.48462	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASMTL	1514652	1.000000	0.71417	0.037000	0.18230	0.027000	0.11550	5.427000	0.66483	0.841000	0.35020	0.525000	0.51046	.		0.587	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192	Intron	11	69	0	0	0	0	11	69				
CNKSR2	22866	broad.mit.edu	37	X	21545080	21545080	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:21545080C>T	ENST00000379510.3	+	10	1089	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L	CNKSR2_ENST00000425654.2_Silent_p.L351L|CNKSR2_ENST00000279451.4_Silent_p.L351L|CNKSR2_ENST00000543067.1_Silent_p.L302L	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	351	DUF1170.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TCCAGGATCTCTACATTCCCC	0.483																																						uc004czx.1		NA																	0				large_intestine(1)|lung(1)	2						c.(1051-1053)CTC>CTT		connector enhancer of kinase suppressor of Ras							222.0	214.0	217.0					X																	21545080		2203	4300	6503	SO:0001819	synonymous_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21545080C>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1053C>T	X.37:g.21545080C>T						CNKSR2_uc004czw.2_Silent_p.L351L|CNKSR2_uc011mjn.1_Silent_p.L302L|CNKSR2_uc011mjo.1_Silent_p.L351L|CNKSR2_uc004czy.2_5'UTR	p.L351L	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			10	1089	+			351			DUF1170.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Silent	SNP	ENST00000379510.3	37	c.1053C>T	CCDS14198.1																																																																																				0.483	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		16	137	0	0	0	0	16	137				
MID1IP1	58526	broad.mit.edu	37	X	38664680	38664680	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:38664680C>G	ENST00000336949.6	+	2	1426	c.481C>G	c.(481-483)Ctc>Gtc	p.L161V	MID1IP1-AS1_ENST00000436893.1_RNA|MID1IP1_ENST00000457894.1_Missense_Mutation_p.L161V|MID1IP1_ENST00000378474.3_Missense_Mutation_p.L161V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	161					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						GCTCTCGAAACTCACGCGCAA	0.627																																						uc004dei.3		NA																	0					0						c.(481-483)CTC>GTC		MID1 interacting G12-like protein							41.0	30.0	34.0					X																	38664680		2202	4300	6502	SO:0001583	missense	58526				lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		g.chrX:38664680C>G		CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"""gastrulation specific G12 homolog (zebrafish)"""		"""MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"""				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.481C>G	X.37:g.38664680C>G	ENSP00000338706:p.Leu161Val					MID1IP1_uc010ngz.2_Missense_Mutation_p.L161V|MID1IP1_uc004dej.3_Missense_Mutation_p.L161V	p.L161V	NM_001098790	NP_001092260	Q9NPA3	M1IP1_HUMAN			3	905	+			161					D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	37	c.481C>G	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236990	0.79800	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.96	4.96	0.65561	.	0.318910	0.29995	N	0.010668	D	0.83843	0.5342	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86765	0.1969	9	0.72032	D	0.01	-19.5241	17.4426	0.87569	0.0:1.0:0.0:0.0	.	161	Q9NPA3	M1IP1_HUMAN	V	161	.	ENSP00000338706:L161V	L	+	1	0	MID1IP1	38549624	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.162000	0.77515	2.302000	0.77476	0.529000	0.55759	CTC		0.627	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1			11	7	0	0	0	0	11	7				
ATP6AP2	10159	broad.mit.edu	37	X	40456555	40456555	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:40456555G>C	ENST00000378438.4	+	4	513	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	ATP6AP2_ENST00000486558.1_Intron|ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000535539.1_Intron|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.E43Q	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	119					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(2)	4						CTTATTTTCTGAGGAAACTCC	0.338																																						uc004det.2		NA																	0					0						c.(355-357)GAG>CAG		ATPase, H+ transporting, lysosomal accessory							124.0	111.0	116.0					X																	40456555		2203	4300	6503	SO:0001583	missense	10159				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity	g.chrX:40456555G>C	AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"""prorenin receptor"", ""renin receptor"""	300556	"""ATPase, H+ transporting, lysosomal interacting protein 2"""	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.355G>C	X.37:g.40456555G>C	ENSP00000367697:p.Glu119Gln					ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.E43Q|ATP6AP2_uc011mkm.1_Intron|ATP6AP2_uc011mkn.1_Intron|ATP6AP2_uc004deu.1_5'Flank	p.E119Q	NM_005765	NP_005756	O75787	RENR_HUMAN			4	457	+			119			Extracellular (Potential).		B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	ENST00000378438.4	37	c.355G>C	CCDS14252.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533289	0.64972	.	.	ENSG00000182220	ENST00000378438;ENST00000544975;ENST00000538655	T;T	0.35048	1.4;1.33	5.04	5.04	0.67666	.	0.045663	0.85682	D	0.000000	T	0.35480	0.0933	L	0.52011	1.625	0.53688	D	0.999975	B	0.27380	0.177	B	0.21151	0.033	T	0.14727	-1.0462	10	0.45353	T	0.12	-19.7514	17.7934	0.88562	0.0:0.0:1.0:0.0	.	119	O75787	RENR_HUMAN	Q	119;43;119	ENSP00000367697:E119Q;ENSP00000440459:E43Q	ENSP00000367697:E119Q	E	+	1	0	ATP6AP2	40341499	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.378000	0.97191	2.220000	0.72140	0.506000	0.49869	GAG		0.338	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060679.1	NM_005765		8	21	0	0	0	0	8	21				
UBA1	7317	broad.mit.edu	37	X	47074277	47074277	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:47074277C>T	ENST00000335972.6	+	26	3309	c.3126C>T	c.(3124-3126)gaC>gaT	p.D1042D	UBA1_ENST00000377269.3_Silent_p.D490D|UBA1_ENST00000377351.4_Silent_p.D1042D	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	1042					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCTGTAACGACGAGAGCGGCG	0.627																																						uc004dhj.3		NA																	0				ovary(1)	1						c.(3124-3126)GAC>GAT		ubiquitin-activating enzyme E1							127.0	93.0	105.0					X																	47074277		2203	4300	6503	SO:0001819	synonymous_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47074277C>T	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.3126C>T	X.37:g.47074277C>T						UBA1_uc004dhk.3_Silent_p.D1042D|UBA1_uc004dhm.2_Silent_p.D490D	p.D1042D	NM_153280	NP_695012	P22314	UBA1_HUMAN			26	3277	+			1042					Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	c.3126C>T	CCDS14275.1																																																																																				0.627	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		23	16	0	0	0	0	23	16				
UBQLN2	29978	broad.mit.edu	37	X	56591223	56591223	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:56591223A>T	ENST00000338222.5	+	1	1198	c.917A>T	c.(916-918)cAg>cTg	p.Q306L		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	306					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GAAGGTACGCAGCCTTCCCGC	0.562																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.2		NA																	0				ovary(1)|skin(1)	2						c.(916-918)CAG>CTG		ubiquilin 2							60.0	50.0	54.0					X																	56591223		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56591223A>T	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.917A>T	X.37:g.56591223A>T	ENSP00000345195:p.Gln306Leu					UBQLN2_uc011moq.1_Missense_Mutation_p.Q306L	p.Q306L	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			1	1152	+			306					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.917A>T	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.573964	0.65765	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.80214	-1.35	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000004	D	0.88577	0.6474	M	0.82630	2.6	0.54753	D	0.999981	B;D	0.76494	0.232;0.999	B;D	0.70227	0.168;0.968	D	0.87987	0.2747	10	0.35671	T	0.21	-4.6788	11.6291	0.51164	1.0:0.0:0.0:0.0	.	306;306	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	L	306	ENSP00000345195:Q306L	ENSP00000345195:Q306L	Q	+	2	0	UBQLN2	56607948	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	8.189000	0.89712	1.949000	0.56562	0.486000	0.48141	CAG		0.562	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		11	3	0	0	0	0	11	3				
ARR3	407	broad.mit.edu	37	X	69489243	69489243	+	Splice_Site	SNP	A	A	C			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:69489243A>C	ENST00000307959.8	+	2	59	c.8A>C	c.(7-9)aAg>aCg	p.K3T	ARR3_ENST00000374495.3_Splice_Site_p.K3T	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	3					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AACATGTCCAAGTAAGAATTC	0.423																																						uc004dyb.2		NA																	0				large_intestine(2)|ovary(2)	4						c.(7-9)AAG>ACG		arrestin 3, retinal (X-arrestin)							124.0	106.0	112.0					X																	69489243		2203	4300	6503	SO:0001630	splice_region_variant	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69489243A>C		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.8+1A>C	X.37:g.69489243A>C						ARR3_uc004dya.2_Missense_Mutation_p.K3T	p.K3T	NM_004312	NP_004303	P36575	ARRC_HUMAN			2	76	+			3					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.8A>C	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920910	0.52653	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.19532	2.14;2.14	3.99	-1.51	0.08664	Arrestin, N-terminal (1);Immunoglobulin E-set (1);	0.599517	0.17663	N	0.166256	T	0.22399	0.0540	M	0.82823	2.61	0.20489	N	0.999891	B;B	0.11235	0.0;0.004	B;B	0.15052	0.001;0.012	T	0.25047	-1.0143	10	0.56958	D	0.05	.	4.9457	0.13987	0.6549:0.1842:0.1608:0.0	.	3;3	P36575;P36575-2	ARRC_HUMAN;.	T	3	ENSP00000363619:K3T;ENSP00000311538:K3T	ENSP00000311538:K3T	K	+	2	0	ARR3	69405968	1.000000	0.71417	0.688000	0.30117	0.760000	0.43138	0.569000	0.23638	-0.522000	0.06417	0.437000	0.28790	AAG		0.423	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312	Missense_Mutation	11	5	0	0	0	0	11	5				
PGAM4	441531	broad.mit.edu	37	X	77224532	77224532	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:77224532C>G	ENST00000458128.1	-	1	603	c.604G>C	c.(604-606)Gaa>Caa	p.E202Q	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	202					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						ATAGCCTCTTCAGAGAGACCC	0.512																																						uc004ecy.1		NA																	0					0						c.(604-606)GAA>CAA		bisphosphoglycerate mutase 4							108.0	102.0	104.0					X																	77224532		2203	4296	6499	SO:0001583	missense	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224532C>G	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.604G>C	X.37:g.77224532C>G	ENSP00000412189:p.Glu202Gln					ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	p.E202Q	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN			1	604	-			202					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.604G>C	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703799	0.48412	.	.	ENSG00000226784	ENST00000458128	T	0.80480	-1.38	0.119	0.119	0.14685	.	0.318671	0.28834	U	0.013987	T	0.78553	0.4301	M	0.92077	3.27	0.47621	D	0.999473	P	0.35923	0.528	B	0.28305	0.088	T	0.73471	-0.3972	9	.	.	.	-27.5558	6.135	0.20227	0.0:0.9996:0.0:4.0E-4	.	202	Q8N0Y7	PGAM4_HUMAN	Q	202	ENSP00000412189:E202Q	.	E	-	1	0	PGAM4	77111188	1.000000	0.71417	0.760000	0.31359	0.765000	0.43378	5.224000	0.65288	0.260000	0.21731	0.264000	0.19307	GAA		0.512	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		4	179	0	0	0	0	4	179				
NAP1L3	4675	broad.mit.edu	37	X	92927456	92927456	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:92927456C>G	ENST00000373079.3	-	1	1111	c.848G>C	c.(847-849)aGa>aCa	p.R283T	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.R276T|FAM133A_ENST00000538690.1_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	283					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.R283I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTCAGGAACTCTTTTATGAGT	0.453																																						uc004efq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(847-849)AGA>ACA		nucleosome assembly protein 1-like 3							102.0	95.0	97.0					X																	92927456		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927456C>G		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.848G>C	X.37:g.92927456C>G	ENSP00000362171:p.Arg283Thr					FAM133A_uc004efr.1_5'Flank	p.R283T	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	1153	-			283					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.848G>C	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	C	9.923	1.212736	0.22289	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.32023	1.47	3.2	3.2	0.36748	.	0.000000	0.38663	N	0.001617	T	0.31827	0.0809	L	0.40543	1.245	0.30710	N	0.749382	D	0.58268	0.982	P	0.57720	0.826	T	0.13442	-1.0509	10	0.16896	T	0.51	.	5.5677	0.17180	0.0:0.8485:0.0:0.1515	.	283	Q99457	NP1L3_HUMAN	T	283;276	ENSP00000362171:R283T	ENSP00000362171:R283T	R	-	2	0	NAP1L3	92814112	0.984000	0.35163	0.729000	0.30791	0.751000	0.42716	1.346000	0.33964	1.863000	0.54032	0.529000	0.55759	AGA		0.453	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		3	87	0	0	0	0	3	87				
TCEAL4	79921	broad.mit.edu	37	X	102842017	102842017	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:102842017C>T	ENST00000472745.1	+	3	966	c.414C>T	c.(412-414)ctC>ctT	p.L138L	TCEAL4_ENST00000472484.1_Silent_p.L138L|TCEAL4_ENST00000372629.4_Silent_p.L281L|TCEAL4_ENST00000494801.1_Silent_p.L138L|TCEAL4_ENST00000415568.2_Silent_p.L138L|TCEAL4_ENST00000468024.1_Silent_p.L138L			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						CTCATTACCTCAAGGAGTATA	0.438																																						uc004ekl.2		NA																	0					0						c.(412-414)CTC>CTT		transcription elongation factor A (SII)-like 4							113.0	116.0	115.0					X																	102842017		2203	4300	6503	SO:0001819	synonymous_variant	79921				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102842017C>T	AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000472745.1:c.414C>T	X.37:g.102842017C>T						TCEAL4_uc004ekn.2_Silent_p.L138L|TCEAL4_uc004ekm.2_Silent_p.L138L|TCEAL4_uc004eko.2_Silent_p.L138L	p.L138L	NM_024863	NP_079139	Q96EI5	TCAL4_HUMAN			3	707	+			138					Q8WY12|Q9H2H1|Q9H775	Silent	SNP	ENST00000472745.1	37	c.414C>T	CCDS14510.2																																																																																				0.438	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252339.2	NM_024863		11	117	0	0	0	0	11	117				
PLP1	5354	broad.mit.edu	37	X	103041526	103041526	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:103041526C>T	ENST00000303958.2	+	3	470	c.324C>T	c.(322-324)atC>atT	p.I108I	PLP1_ENST00000361621.2_Silent_p.I108I|PLP1_ENST00000418604.1_Silent_p.I108I	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	108					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGACCACCATCTGCGGCAAGG	0.582																																						uc010nov.2		NA																	0				ovary(1)	1						c.(322-324)ATC>ATT		proteolipid protein 1 isoform 1							117.0	104.0	108.0					X																	103041526		2203	4300	6503	SO:0001819	synonymous_variant	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103041526C>T	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.324C>T	X.37:g.103041526C>T						RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Silent_p.I108I|PLP1_uc004elj.2_Silent_p.I108I|PLP1_uc011msf.1_Silent_p.I53I|PLP1_uc010now.1_Silent_p.I112I|PLP1_uc010nox.2_Silent_p.I62I	p.I108I	NM_001128834	NP_001122306	P60201	MYPR_HUMAN			4	604	+			108			Cytoplasmic (Probable).		P04400|P06905|Q502Y1|Q6FHZ6	Silent	SNP	ENST00000303958.2	37	c.324C>T	CCDS14513.1																																																																																				0.582	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			12	110	0	0	0	0	12	110				
SERPINA7	6906	broad.mit.edu	37	X	105280474	105280474	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:105280474G>A	ENST00000327674.4	-	1	911	c.576C>T	c.(574-576)ctC>ctT	p.L192L	SERPINA7_ENST00000372563.1_Silent_p.L192L|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	192					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L192L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGTTTGGCTTGAGGTCTTGAA	0.418																																						uc004eme.1		NA																	1	Substitution - coding silent(1)		endometrium(1)		0						c.(574-576)CTC>CTT		serine (or cysteine) proteinase inhibitor, clade	Levothyroxine(DB00451)|Liothyronine(DB00279)						157.0	139.0	145.0					X																	105280474		2203	4300	6503	SO:0001819	synonymous_variant	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280474G>A	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.576C>T	X.37:g.105280474G>A						SERPINA7_uc010npd.2_Silent_p.L192L|SERPINA7_uc010npe.1_Silent_p.L192L	p.L192L	NM_000354	NP_000345	P05543	THBG_HUMAN			1	592	-			192					D3DUX1	Silent	SNP	ENST00000327674.4	37	c.576C>T	CCDS14518.1																																																																																				0.418	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		18	103	0	0	0	0	18	103				
CHRDL1	91851	broad.mit.edu	37	X	109922601	109922601	+	Silent	SNP	C	C	T			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:109922601C>T	ENST00000372045.1	-	11	1316	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	CHRDL1_ENST00000434224.1_Silent_p.E322E|CHRDL1_ENST00000218054.4_Silent_p.E401E|CHRDL1_ENST00000372042.1_Silent_p.E403E|CHRDL1_ENST00000394797.4_Silent_p.E401E|CHRDL1_ENST00000444321.2_Silent_p.E402E|CHRDL1_ENST00000482160.1_Silent_p.E323E			Q9BU40	CRDL1_HUMAN	chordin-like 1	395					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AGTGAGGAAGCTCCTCAAACA	0.453																																						uc004eou.3		NA																	0					0						c.(1207-1209)GAG>GAA		chordin-like 1 isoform 1 precursor							173.0	135.0	148.0					X																	109922601		2203	4300	6503	SO:0001819	synonymous_variant	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109922601C>T	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1185G>A	X.37:g.109922601C>T						CHRDL1_uc004eov.2_Silent_p.E392E|CHRDL1_uc004eow.2_Silent_p.E401E|CHRDL1_uc010nps.2_Silent_p.E402E|CHRDL1_uc004eot.2_Silent_p.E322E|CHRDL1_uc011mss.1_Silent_p.E317E	p.E403E	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN			11	1558	-			395					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Silent	SNP	ENST00000372045.1	37	c.1209G>A																																																																																					0.453	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		45	15	0	0	0	0	45	15				
GPC4	2239	broad.mit.edu	37	X	132548982	132548982	+	Silent	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:132548982G>A	ENST00000370828.3	-	1	536	c.12C>T	c.(10-12)ttC>ttT	p.F4F	GPC4_ENST00000535467.1_5'Flank	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	4					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CGGGCAAGCCGAACCGTGCCA	0.701																																						uc004exc.1		NA																	0					0						c.(10-12)TTC>TTT		glypican 4 precursor							21.0	24.0	23.0					X																	132548982		2201	4285	6486	SO:0001819	synonymous_variant	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132548982G>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.12C>T	X.37:g.132548982G>A						GPC4_uc011mvg.1_5'Flank	p.F4F	NM_001448	NP_001439	O75487	GPC4_HUMAN			1	224	-	Acute lymphoblastic leukemia(192;0.000127)		4					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Silent	SNP	ENST00000370828.3	37	c.12C>T	CCDS14637.1																																																																																				0.701	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		7	20	0	0	0	0	7	20				
ATP2B3	492	broad.mit.edu	37	X	152845713	152845713	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:152845713C>G	ENST00000349466.2	+	21	3946	c.3620C>G	c.(3619-3621)tCc>tGc	p.S1207C	ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000263519.4_Missense_Mutation_p.S1207C|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000359149.3_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1207					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTTTCCTCCAGTCCCGGG	0.592																																						uc004fht.1		NA																	0				pancreas(1)	1						c.(3619-3621)TCC>TGC		plasma membrane calcium ATPase 3 isoform 3b							102.0	90.0	94.0					X																	152845713		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152845713C>G	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3620C>G	X.37:g.152845713C>G	ENSP00000343886:p.Ser1207Cys					ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Missense_Mutation_p.S344C|ATP2B3_uc004fhu.1_Missense_Mutation_p.S159C	p.S1207C	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			20	3746	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1207			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.3620C>G	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.019713	0.75275	.	.	ENSG00000067842	ENST00000349466;ENST00000263519	D;D	0.95690	-3.78;-3.78	4.61	4.61	0.57282	.	0.792049	0.10641	N	0.650978	D	0.95589	0.8566	L	0.38175	1.15	0.80722	D	1	D;D	0.65815	0.995;0.975	P;P	0.55824	0.785;0.62	D	0.94241	0.7485	10	0.87932	D	0	-35.6627	15.9372	0.79720	0.0:1.0:0.0:0.0	.	1193;1207	Q16720-4;Q16720	.;AT2B3_HUMAN	C	1207	ENSP00000343886:S1207C;ENSP00000263519:S1207C	ENSP00000263519:S1207C	S	+	2	0	ATP2B3	152498907	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	5.191000	0.65110	2.212000	0.71576	0.525000	0.51046	TCC		0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		3	75	0	0	0	0	3	75				
KDM5D	8284	broad.mit.edu	37	Y	21877710	21877710	+	Splice_Site	SNP	G	G	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrY:21877710G>A	ENST00000317961.4	-	16	2483	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	KDM5D_ENST00000382806.2_Splice_Site_p.R681W|KDM5D_ENST00000541639.1_Splice_Site_p.R769W	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	738					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CATGCTCACCGGAGGTACTGT	0.552																																						uc004fug.2		NA																	0				skin(1)	1						c.(2212-2214)CGG>TGG		jumonji, AT rich interactive domain 1D isoform	Vitamin C(DB00126)						78.0	67.0	70.0					Y																	21877710		599	1941	2540	SO:0001630	splice_region_variant	8284				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrY:21877710G>A	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.2213+1C>T	Y.37:g.21877710G>A						KDM5D_uc011naz.1_Missense_Mutation_p.R769W|KDM5D_uc010nwy.2_Missense_Mutation_p.R681W|KDM5D_uc011nba.1_Missense_Mutation_p.R738W|KDM5D_uc004fuf.2_5'Flank	p.R738W	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN			16	2500	-			738					A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	c.2212C>T	CCDS14794.1																																																																																				0.552	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653	Missense_Mutation	67	9	0	0	0	0	67	9				
NSUN4	387338	broad.mit.edu	37	1	46826430	46826430	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:46826430delA	ENST00000474844.1	+	5	1458	c.808delA	c.(808-810)aacfs	p.N271fs	NSUN4_ENST00000537428.1_Frame_Shift_Del_p.N222fs|NSUN4_ENST00000536062.1_Frame_Shift_Del_p.N222fs|NSUN4_ENST00000498008.1_3'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	271					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TGAGGAGGAGAACAACATCTT	0.473																																						uc001cpr.1		NA																	0					0						c.(808-810)AACfs		NOL1/NOP2/Sun domain family 4 protein							146.0	135.0	139.0					1																	46826430		2203	4300	6503	SO:0001589	frameshift_variant	387338						methyltransferase activity	g.chr1:46826430delA	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.808delA	1.37:g.46826430delA	ENSP00000419740:p.Asn271fs					NSUN4_uc010omc.1_Frame_Shift_Del_p.N221fs|NSUN4_uc009vyf.1_Frame_Shift_Del_p.N119fs|NSUN4_uc009vyg.1_Frame_Shift_Del_p.N221fs|NSUN4_uc001cpt.1_RNA|NSUN4_uc001cps.1_RNA	p.N270fs	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN			5	917	+	Acute lymphoblastic leukemia(166;0.155)		270					A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Frame_Shift_Del	DEL	ENST00000474844.1	37	c.808delA	CCDS534.1																																																																																				0.473	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		41	80	NA	NA	NA	NA	41	80	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	21592401	21592402	+	Frame_Shift_Ins	INS	-	-	A	rs374067500		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:21592401_21592402insA	ENST00000357134.5	+	18	2224_2225	c.2072_2073insA	c.(2071-2076)acaagtfs	p.S692fs	NELL1_ENST00000325319.5_Frame_Shift_Ins_p.S635fs|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Frame_Shift_Ins_p.S645fs|NELL1_ENST00000298925.5_Frame_Shift_Ins_p.S720fs	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	692	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACCAGAGTCACAAGTCAATGTT	0.47																																						uc001mqe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(2071-2073)ACAfs		nel-like 1 isoform 1 precursor																																				SO:0001589	frameshift_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21592401_21592402insA	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2074dupA	11.37:g.21592403_21592403dupA	ENSP00000349654:p.Ser692fs					NELL1_uc001mqf.2_Frame_Shift_Ins_p.T644fs|NELL1_uc009yid.2_Frame_Shift_Ins_p.T719fs|NELL1_uc010rdo.1_Frame_Shift_Ins_p.T634fs|NELL1_uc010rdp.1_Frame_Shift_Ins_p.T404fs|NELL1_uc001mqh.2_Frame_Shift_Ins_p.T236fs	p.T691fs	NM_006157	NP_006148	Q92832	NELL1_HUMAN			18	2225_2226	+			691					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Frame_Shift_Ins	INS	ENST00000357134.5	37	c.2072_2073insA	CCDS7855.1																																																																																				0.470	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		61	104	NA	NA	NA	NA	61	104	---	---	---	---
MS4A6E	245802	broad.mit.edu	37	11	60107412	60107418	+	Frame_Shift_Del	DEL	GGAAACA	GGAAACA	-			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:60107412_60107418delGGAAACA	ENST00000300182.4	+	3	493_499	c.428_434delGGAAACA	c.(427-435)tggaaacagfs	p.WKQ143fs		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	143						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						GTGCTGCAGTGGAAACAGACTGTCTGA	0.478																																						uc001npd.2		NA																	0					0						c.(427-435)TGGAAACAGfs		membrane-spanning 4-domains, subfamily A, member																																				SO:0001589	frameshift_variant	245802					integral to membrane	receptor activity	g.chr11:60107412_60107418delGGAAACA	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.428_434delGGAAACA	11.37:g.60107412_60107418delGGAAACA	ENSP00000300182:p.Trp143fs						p.W143fs	NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN			3	442_448	+			143_145			Cytoplasmic (Potential).		Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Frame_Shift_Del	DEL	ENST00000300182.4	37	c.428_434delGGAAACA	CCDS7984.1																																																																																				0.478	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1			22	99	NA	NA	NA	NA	22	99	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23528491	23528491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:23528491delC	ENST00000262710.1	-	19	4219	c.3892delG	c.(3892-3894)gacfs	p.D1298fs	ACIN1_ENST00000357481.2_Frame_Shift_Del_p.D540fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.D539fs|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.D1258fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.D1285fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.D540fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.D571fs|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.D1240fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1298	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCCCccctgtcccgctccctt	0.637											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wit.3		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(3892-3894)GACfs		apoptotic chromatin condensation inducer 1							117.0	91.0	100.0					14																	23528491		2203	4300	6503	SO:0001589	frameshift_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23528491delC	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3892delG	14.37:g.23528491delC	ENSP00000262710:p.Asp1298fs		OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_uc001wil.2_5'Flank|CDH24_uc010akf.2_5'Flank|CDH24_uc001win.3_5'Flank|ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Frame_Shift_Del_p.D540fs|ACIN1_uc001wiq.3_Frame_Shift_Del_p.D540fs|ACIN1_uc001wir.3_Frame_Shift_Del_p.D571fs|ACIN1_uc001wis.3_Frame_Shift_Del_p.D979fs|ACIN1_uc010akg.2_Frame_Shift_Del_p.D1285fs	p.D1298fs	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4220	-	all_cancers(95;1.36e-05)		1298			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Del	DEL	ENST00000262710.1	37	c.3892delG	CCDS9587.1																																																																																				0.637	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		13	32	NA	NA	NA	NA	13	32	---	---	---	---
TFG	10342	broad.mit.edu	37	3	100463757	100463758	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:100463757_100463758insA	ENST00000240851.4	+	7	1142_1143	c.802_803insA	c.(802-804)tatfs	p.Y268fs	TFG_ENST00000476228.1_Frame_Shift_Ins_p.Y264fs|TFG_ENST00000490574.1_Frame_Shift_Ins_p.Y268fs|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000418917.2_Frame_Shift_Ins_p.Y264fs	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	268					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GCCTCAACAGTATGGTATTCAG	0.455			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	uc003due.2		NA		Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	NTRK1|ALK		papillary thyroid|ALCL|NSCLC	TFG/ALK(7)	0				haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						c.(802-804)TATfs		TRK-fused																																				SO:0001589	frameshift_variant	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100463757_100463758insA	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.803dupA	3.37:g.100463758_100463758dupA	ENSP00000240851:p.Tyr268fs					TFG_uc003duf.2_Frame_Shift_Ins_p.Y268fs|TFG_uc003dug.2_Frame_Shift_Ins_p.Y264fs|TFG_uc003duh.2_Frame_Shift_Ins_p.Y264fs|TFG_uc003dui.2_Frame_Shift_Ins_p.Y268fs	p.Y268fs	NM_006070	NP_006061	Q92734	TFG_HUMAN			7	1251_1252	+			268					D3DN49|G5E9V1|Q15656|Q969I2	Frame_Shift_Ins	INS	ENST00000240851.4	37	c.802_803insA	CCDS2939.1																																																																																				0.455	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		70	83	NA	NA	NA	NA	70	83	---	---	---	---
POLR2B	5431	broad.mit.edu	37	4	57896492	57896492	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:57896492delT	ENST00000381227.1	+	25	3775	c.3362delT	c.(3361-3363)cttfs	p.L1121fs	POLR2B_ENST00000314595.5_Frame_Shift_Del_p.L1121fs|POLR2B_ENST00000441246.2_Frame_Shift_Del_p.L1114fs|POLR2B_ENST00000431623.2_Frame_Shift_Del_p.L1046fs|IGFBP7_ENST00000512512.1_5'Flank			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1121					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GTTTGCAATCTTTGTGGAATA	0.448																																						uc003hcl.1		NA																	0				ovary(2)	2						c.(3361-3363)CTTfs		DNA directed RNA polymerase II polypeptide B							104.0	101.0	102.0					4																	57896492		2203	4300	6503	SO:0001589	frameshift_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57896492delT		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.3362delT	4.37:g.57896492delT	ENSP00000370625:p.Leu1121fs					POLR2B_uc011cae.1_Frame_Shift_Del_p.L1114fs|POLR2B_uc011caf.1_Frame_Shift_Del_p.L1046fs|POLR2B_uc003hcm.1_Frame_Shift_Del_p.L614fs	p.L1121fs	NM_000938	NP_000929	P30876	RPB2_HUMAN			24	3405	+	Glioma(25;0.08)|all_neural(26;0.181)		1121			C4-type.		A8K1A8|Q8IZ61	Frame_Shift_Del	DEL	ENST00000381227.1	37	c.3362delT	CCDS3511.1																																																																																				0.448	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		16	51	NA	NA	NA	NA	16	51	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187628386	187628386	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:187628386delC	ENST00000441802.2	-	2	2805	c.2596delG	c.(2596-2598)gacfs	p.D866fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	866	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						GAAAATGTGTCTGTGTCTGTA	0.493										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.(2596-2598)GACfs		FAT tumor suppressor 1 precursor							138.0	134.0	136.0					4																	187628386		2043	4175	6218	SO:0001589	frameshift_variant	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.chr4:187628386delC	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.2596delG	4.37:g.187628386delC	ENSP00000406229:p.Asp866fs	HNSCC(5;0.00058)				FAT1_uc010iso.1_Frame_Shift_Del_p.D866fs	p.D866fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	2784	-			866			Extracellular (Potential).|Cadherin 7.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.2596delG	CCDS47177.1																																																																																				0.493	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		21	32	NA	NA	NA	NA	21	32	---	---	---	---
