#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
MTOR	2475	broad.mit.edu	37	1	11298657	11298657	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:11298657A>G	ENST00000361445.4	-	12	1880	c.1804T>C	c.(1804-1806)Ttt>Ctt	p.F602L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	602	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGGCGAACAAATTGGGTCAGA	0.532																																						uc001asd.2		NA																	0				central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(1804-1806)TTT>CTT		FK506 binding protein 12-rapamycin associated							46.0	40.0	42.0					1																	11298657		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11298657A>G	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1804T>C	1.37:g.11298657A>G	ENSP00000354558:p.Phe602Leu						p.F602L	NM_004958	NP_004949	P42345	MTOR_HUMAN			12	1925	-			602					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.1804T>C	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.938890	0.73557	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.35421	1.31	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	M	0.74881	2.28	0.80722	D	1	B	0.25667	0.131	B	0.22386	0.039	T	0.36962	-0.9726	10	0.56958	D	0.05	-8.5284	15.7828	0.78275	1.0:0.0:0.0:0.0	.	602	P42345	MTOR_HUMAN	L	602	ENSP00000354558:F602L	ENSP00000354558:F602L	F	-	1	0	MTOR	11221244	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.923000	0.92808	2.141000	0.66446	0.533000	0.62120	TTT		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		8	5	0	0	0	0	8	5				
SYTL1	84958	broad.mit.edu	37	1	27677312	27677312	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:27677312G>T	ENST00000543823.1	+	10	1495	c.1033G>T	c.(1033-1035)Ggc>Tgc	p.G345C	SYTL1_ENST00000318074.5_Missense_Mutation_p.G333C|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	345	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGAGCTTCAGGGCCGCGTGCT	0.642																																						uc001bnw.1		NA																	0				ovary(1)	1						c.(1033-1035)GGC>TGC		synaptotagmin-like 1							58.0	54.0	55.0					1																	27677312		2203	4300	6503	SO:0001583	missense	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27677312G>T	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1033G>T	1.37:g.27677312G>T	ENSP00000440704:p.Gly345Cys					SYTL1_uc001bnv.1_Missense_Mutation_p.G333C|SYTL1_uc009vsu.1_Intron|SYTL1_uc001bnx.2_3'UTR|SYTL1_uc009vsv.1_Missense_Mutation_p.G345C	p.G345C	NM_032872	NP_116261	Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	11	1200	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	345			C2 1.		Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	c.1033G>T	CCDS53286.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.152174|3.152174	0.57259|0.57259	.|.	.|.	ENSG00000142765|ENSG00000142765	ENST00000318074;ENST00000543823;ENST00000485269|ENST00000496001	T;T|.	0.08807|.	3.05;3.05|.	4.49|4.49	3.56|3.56	0.40772|0.40772	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.217146|.	0.47852|.	D|.	0.000215|.	T|T	0.46889|0.46889	0.1416|0.1416	L|L	0.58510|0.58510	1.815|1.815	0.31915|0.31915	N|N	0.614225|0.614225	D;D|.	0.61697|.	0.99;0.989|.	D;P|.	0.72075|.	0.976;0.879|.	T|T	0.54629|0.54629	-0.8265|-0.8265	10|5	0.59425|.	D|.	0.04|.	-18.7782|-18.7782	4.5425|4.5425	0.12066|0.12066	0.1812:0.1966:0.6221:0.0|0.1812:0.1966:0.6221:0.0	.|.	345;333|.	Q8IYJ3;Q8IYJ3-2|.	SYTL1_HUMAN;.|.	C|S	333;345;98|192	ENSP00000316464:G333C;ENSP00000440704:G345C|.	ENSP00000316464:G333C|.	G|R	+|+	1|3	0|2	SYTL1|SYTL1	27549899|27549899	0.772000|0.772000	0.28567|0.28567	0.378000|0.378000	0.26068|0.26068	0.622000|0.622000	0.37654|0.37654	1.274000|1.274000	0.33132|0.33132	1.086000|1.086000	0.41228|0.41228	0.456000|0.456000	0.33151|0.33151	GGC|AGG		0.642	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		20	24	1	0	2.71e-06	1.02e-05	20	24				
BEND5	79656	broad.mit.edu	37	1	49202034	49202034	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:49202034C>T	ENST00000371833.3	-	5	1071	c.985G>A	c.(985-987)Gca>Aca	p.A329T	AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	329	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						ATCATAACTGCCAAGTTCTTC	0.483																																						uc001crx.3		NA																	0				skin(1)	1						c.(985-987)GCA>ACA		BEN domain containing 5							164.0	155.0	158.0					1																	49202034		2203	4300	6503	SO:0001583	missense	79656							g.chr1:49202034C>T	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.985G>A	1.37:g.49202034C>T	ENSP00000360899:p.Ala329Thr					AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Missense_Mutation_p.A160T	p.A329T	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN			5	1029	-			329			BEN.		D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	ENST00000371833.3	37	c.985G>A	CCDS552.2	.	.	.	.	.	.	.	.	.	.	C	33	5.216150	0.95104	.	.	ENSG00000162373	ENST00000371833;ENST00000294347	T	0.42513	0.97	5.28	5.28	0.74379	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.54159	0.1841	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.49153	-0.8969	9	.	.	.	-18.0038	17.8927	0.88877	0.0:1.0:0.0:0.0	.	329	Q7L4P6	BEND5_HUMAN	T	329;41	ENSP00000360899:A329T	.	A	-	1	0	BEND5	48974621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.440000	0.80464	2.481000	0.83766	0.555000	0.69702	GCA		0.483	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		30	144	0	0	0	0	30	144				
MYSM1	114803	broad.mit.edu	37	1	59131251	59131251	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:59131251T>C	ENST00000472487.1	-	17	2123	c.2084A>G	c.(2083-2085)tAt>tGt	p.Y695C	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	695					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ATTTCGATTATAGGGACTAAC	0.333																																						uc009wab.1		NA																	0				skin(1)	1						c.(2083-2085)TAT>TGT		Myb-like, SWIRM and MPN domains 1							114.0	109.0	111.0					1																	59131251		1829	4073	5902	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59131251T>C	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.2084A>G	1.37:g.59131251T>C	ENSP00000418734:p.Tyr695Cys					MYSM1_uc009waa.1_Missense_Mutation_p.Y101C|MYSM1_uc001czc.2_RNA	p.Y695C	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN			17	2107	-	all_cancers(7;9.36e-06)		695					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.2084A>G	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176753	0.78564	.	.	ENSG00000162601	ENST00000472487	T	0.63580	-0.05	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.76912	0.4054	M	0.65498	2.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.79745	-0.1674	10	0.87932	D	0	-14.9379	14.198	0.65684	0.0:0.0:0.0:1.0	.	695	Q5VVJ2	MYSM1_HUMAN	C	695	ENSP00000418734:Y695C	ENSP00000418734:Y695C	Y	-	2	0	MYSM1	58903839	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.453000	0.80700	2.141000	0.66446	0.482000	0.46254	TAT		0.333	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		9	67	0	0	0	0	9	67				
GBP7	388646	broad.mit.edu	37	1	89616146	89616146	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:89616146T>A	ENST00000294671.2	-	6	876	c.738A>T	c.(736-738)ttA>ttT	p.L246F		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	246	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CAACATGGAGTAAGAGTTTTT	0.383																																						uc001dna.2		NA																	0				ovary(1)|skin(1)	2						c.(736-738)TTA>TTT		guanylate binding protein 4-like							136.0	128.0	131.0					1																	89616146		2203	4300	6503	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89616146T>A	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.738A>T	1.37:g.89616146T>A	ENSP00000294671:p.Leu246Phe					GBP2_uc001dmy.1_RNA	p.L246F	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	6	877	-		Lung NSC(277;0.0908)	246						Missense_Mutation	SNP	ENST00000294671.2	37	c.738A>T	CCDS720.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232678	0.39498	.	.	ENSG00000213512	ENST00000294671	T	0.64618	-0.11	3.4	0.879	0.19155	Guanylate-binding protein, N-terminal (1);	0.167283	0.40469	N	0.001095	T	0.65863	0.2732	M	0.92555	3.32	0.09310	N	1	D	0.69078	0.997	P	0.58266	0.836	T	0.61158	-0.7119	9	.	.	.	.	5.9637	0.19313	0.0:0.367:0.0:0.633	.	246	Q8N8V2	GBP7_HUMAN	F	246	ENSP00000294671:L246F	.	L	-	3	2	GBP7	89388734	0.002000	0.14202	0.001000	0.08648	0.021000	0.10359	-0.037000	0.12164	-0.015000	0.14150	0.338000	0.21704	TTA		0.383	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		22	49	0	0	0	0	22	49				
PLPPR4	9890	broad.mit.edu	37	1	99772515	99772515	+	Silent	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:99772515T>C	ENST00000370185.3	+	7	2738	c.2241T>C	c.(2239-2241)acT>acC	p.T747T	LPPR4_ENST00000457765.1_Silent_p.T689T|LPPR4_ENST00000370184.1_Silent_p.T589T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		747					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCGAAAACACTAGAAATATCT	0.473																																						uc001dse.2		NA																	0				ovary(3)	3						c.(2239-2241)ACT>ACC		plasticity related gene 1							70.0	69.0	69.0					1																	99772515		2203	4300	6503	SO:0001819	synonymous_variant	9890						phosphatidate phosphatase activity	g.chr1:99772515T>C																												ENST00000370185.3:c.2241T>C	1.37:g.99772515T>C						LPPR4_uc010oue.1_Silent_p.T689T	p.T747T	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2347	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	747					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.2241T>C	CCDS757.1																																																																																				0.473	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			23	55	0	0	0	0	23	55				
SETDB1	9869	broad.mit.edu	37	1	150934615	150934615	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:150934615G>A	ENST00000271640.5	+	17	3329	c.3139G>A	c.(3139-3141)Gac>Aac	p.D1047N	SETDB1_ENST00000368969.4_Missense_Mutation_p.D1047N	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1047	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGACACTGACGACCGAAACAA	0.438																																						uc001evu.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(3139-3141)GAC>AAC		SET domain, bifurcated 1 isoform 1							235.0	203.0	214.0					1																	150934615		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150934615G>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3139G>A	1.37:g.150934615G>A	ENSP00000271640:p.Asp1047Asn					SETDB1_uc001evv.2_Missense_Mutation_p.D1047N|SETDB1_uc009wmg.1_Missense_Mutation_p.D1047N	p.D1047N	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		17	3329	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1047			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.3139G>A	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850919	0.32699	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;T	0.88741	-2.42;-2.42;1.04	5.57	4.65	0.58169	SET domain (3);	0.547535	0.19149	N	0.121489	T	0.62060	0.2397	N	0.08118	0	0.80722	D	1	B;B;B	0.13145	0.007;0.006;0.007	B;B;B	0.09377	0.004;0.002;0.003	T	0.58081	-0.7699	10	0.17369	T	0.5	.	10.8459	0.46743	0.0887:0.0:0.9113:0.0	.	1047;1047;1047	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	N	1047	ENSP00000271640:D1047N;ENSP00000357965:D1047N;ENSP00000432348:D1047N	ENSP00000271640:D1047N	D	+	1	0	SETDB1	149201239	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	3.132000	0.50523	1.326000	0.45319	0.455000	0.32223	GAC		0.438	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			73	177	0	0	0	0	73	177				
HRNR	388697	broad.mit.edu	37	1	152187879	152187879	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:152187879T>C	ENST00000368801.2	-	3	6301	c.6226A>G	c.(6226-6228)Agg>Ggg	p.R2076G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2076					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGACTGCCTTGACCCAGAC	0.627																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(6226-6228)AGG>GGG		hornerin							37.0	34.0	35.0					1																	152187879		2182	4274	6456	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187879T>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6226A>G	1.37:g.152187879T>C	ENSP00000357791:p.Arg2076Gly						p.R2076G	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6302	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2076			23		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6226A>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	4.318	0.058412	0.08339	.	.	ENSG00000197915	ENST00000368801	T	0.01438	4.89	3.72	-7.44	0.01379	.	.	.	.	.	T	0.00241	0.0007	N	0.16790	0.44	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48269	-0.9050	9	0.02654	T	1	.	9.1118	0.36732	0.0:0.3231:0.1007:0.5762	.	2076	Q86YZ3	HORN_HUMAN	G	2076	ENSP00000357791:R2076G	ENSP00000357791:R2076G	R	-	1	2	HRNR	150454503	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.189000	0.00143	-2.674000	0.00412	-2.409000	0.00222	AGG		0.627	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		4	274	0	0	0	0	4	274				
FLG	2312	broad.mit.edu	37	1	152286148	152286148	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:152286148G>C	ENST00000368799.1	-	3	1249	c.1214C>G	c.(1213-1215)gCt>gGt	p.A405G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	405	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGATGAAGCTTGCCCGCG	0.562									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1213-1215)GCT>GGT		filaggrin							244.0	246.0	246.0					1																	152286148		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286148G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1214C>G	1.37:g.152286148G>C	ENSP00000357789:p.Ala405Gly					uc001ezv.2_RNA	p.A405G	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1250	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		405			Ser-rich.|Filaggrin 2.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1214C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	11.56	1.674810	0.29783	.	.	ENSG00000143631	ENST00000368799	T	0.04275	3.66	3.96	3.04	0.35103	.	.	.	.	.	T	0.06096	0.0158	L	0.60455	1.87	0.09310	N	1	D	0.63046	0.992	D	0.71184	0.972	T	0.32079	-0.9920	9	0.19147	T	0.46	.	9.8627	0.41125	0.0:0.2089:0.7911:0.0	.	405	P20930	FILA_HUMAN	G	405	ENSP00000357789:A405G	ENSP00000357789:A405G	A	-	2	0	FLG	150552772	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.191000	0.09601	1.002000	0.39104	-0.304000	0.09214	GCT		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		140	335	0	0	0	0	140	335				
DENND1B	163486	broad.mit.edu	37	1	197480968	197480968	+	IGR	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:197480968C>T								CRB1 (33383 upstream) : DENND1B (40416 downstream)																							AGAATCTCTCCTAGTAAGTCC	0.418																																						uc010ppe.1		NA																	0					0						c.(1645-1647)GGA>AGA		DENN/MADD domain containing 1B isoform 1							118.0	115.0	116.0					1																	197480968		2203	4300	6503	SO:0001628	intergenic_variant	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197480968C>T																													1.37:g.197480968C>T						DENND1B_uc010ppf.1_RNA	p.G549R	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN			21	1983	-			Error:Variant_position_missing_in_Q6P3S1_after_alignment						Missense_Mutation	SNP		37	c.1645G>A		.	.	.	.	.	.	.	.	.	.	C	24.4	4.521859	0.85600	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419	T	0.37752	1.18	5.7	5.7	0.88788	.	0.519021	0.16348	U	0.218339	T	0.62539	0.2436	M	0.69823	2.125	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.60094	-0.7330	10	0.51188	T	0.08	.	19.844	0.96702	0.0:1.0:0.0:0.0	.	569	Q6P3S1-5	.	R	209;569;549	ENSP00000375839:G209R	ENSP00000375839:G209R	G	-	1	0	DENND1B	195747591	1.000000	0.71417	0.225000	0.23894	0.957000	0.61999	6.982000	0.76173	2.690000	0.91761	0.650000	0.86243	GGA	0	0.418									5	105	0	0	0	0	5	105				
PFKFB2	5208	broad.mit.edu	37	1	207236550	207236550	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:207236550T>C	ENST00000367080.3	+	5	495	c.371T>C	c.(370-372)aTt>aCt	p.I124T	PFKFB2_ENST00000367079.2_Missense_Mutation_p.I124T|PFKFB2_ENST00000411990.2_Missense_Mutation_p.I26T|PFKFB2_ENST00000545806.1_Missense_Mutation_p.I91T|PFKFB2_ENST00000541914.1_5'Flank	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	124	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					AATGGTCAGATTGCGGTAAGC	0.532																																						uc001hfg.2		NA																	0				ovary(1)	1						c.(370-372)ATT>ACT		6-phosphofructo-2-kinase/fructose-2,							234.0	213.0	220.0					1																	207236550		2203	4300	6503	SO:0001583	missense	5208				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr1:207236550T>C		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.371T>C	1.37:g.207236550T>C	ENSP00000356047:p.Ile124Thr					PFKFB2_uc010psc.1_Missense_Mutation_p.I26T|PFKFB2_uc001hfh.2_Missense_Mutation_p.I124T|PFKFB2_uc009xcc.2_Missense_Mutation_p.I82T|PFKFB2_uc010psd.1_5'Flank	p.I124T	NM_006212	NP_006203	O60825	F262_HUMAN			5	480	+	Prostate(682;0.19)		124			6-phosphofructo-2-kinase.		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	ENST00000367080.3	37	c.371T>C	CCDS31004.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.690075	0.88735	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806	.	.	.	5.32	5.32	0.75619	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.80602	0.4654	M	0.85630	2.765	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.977	D;D;P	0.73708	0.944;0.981;0.775	D	0.84078	0.0383	9	0.87932	D	0	.	14.6182	0.68565	0.0:0.0:0.0:1.0	.	26;124;124	B4DY91;Q5VVQ3;O60825	.;.;F262_HUMAN	T	26;124;124;91	.	ENSP00000356046:I124T	I	+	2	0	PFKFB2	205303173	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	7.803000	0.85983	2.233000	0.73108	0.533000	0.62120	ATT		0.532	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1			9	98	0	0	0	0	9	98				
PPP2R5A	5525	broad.mit.edu	37	1	212521732	212521732	+	Splice_Site	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:212521732A>T	ENST00000261461.2	+	7	1340	c.766A>T	c.(766-768)Att>Ttt	p.I256F	PPP2R5A_ENST00000537030.3_Splice_Site_p.I199F	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	256					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TCCCTCCAGTATTATCAATGG	0.368																																						uc001hjb.2		NA																	0				ovary(1)	1						c.(766-768)ATT>TTT		protein phosphatase 2, regulatory subunit B							82.0	82.0	82.0					1																	212521732		2202	4300	6502	SO:0001630	splice_region_variant	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212521732A>T	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.765-1A>T	1.37:g.212521732A>T						PPP2R5A_uc010ptd.1_Missense_Mutation_p.I197F	p.I256F	NM_006243	NP_006234	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	7	1340	+			256					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	c.766A>T	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.038844	0.93630	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.93	5.93	0.95920	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90021	0.6884	H	0.97635	4.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93413	0.6770	9	0.87932	D	0	-17.4851	16.3756	0.83387	1.0:0.0:0.0:0.0	.	199;256	B7Z7L2;Q15172	.;2A5A_HUMAN	F	256;256;199	.	ENSP00000261461:I256F	I	+	1	0	PPP2R5A	210588355	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.149000	0.94659	2.270000	0.75569	0.460000	0.39030	ATT		0.368	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243	Missense_Mutation	28	67	0	0	0	0	28	67				
BPNT1	10380	broad.mit.edu	37	1	220253139	220253139	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:220253139G>C	ENST00000469520.2	-	3	499	c.50C>G	c.(49-51)tCt>tGt	p.S17C	BPNT1_ENST00000414869.2_Missense_Mutation_p.S17C|BPNT1_ENST00000354807.3_Missense_Mutation_p.S17C|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.S17C|BPNT1_ENST00000544404.1_Intron			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	17					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TTGAGCAATAGAATATGCGGA	0.413																																						uc001hma.2		NA																	0				ovary(1)	1						c.(49-51)TCT>TGT		3'(2'), 5'-bisphosphate nucleotidase 1							123.0	111.0	115.0					1																	220253139		1930	4126	6056	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220253139G>C	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.50C>G	1.37:g.220253139G>C	ENSP00000446828:p.Ser17Cys					BPNT1_uc010pug.1_Intron|BPNT1_uc010puh.1_Missense_Mutation_p.S17C|BPNT1_uc001hmb.3_Missense_Mutation_p.S17C	p.S17C	NM_006085	NP_006076	O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	2	222	-			17					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.50C>G	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569031	0.65765	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000498237	T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.51	5.51	0.81932	.	0.152019	0.64402	D	0.000010	T	0.69663	0.3136	M	0.69358	2.11	0.80722	D	1	B;D;B	0.65815	0.103;0.995;0.388	B;P;B	0.61592	0.112;0.891;0.203	T	0.72424	-0.4298	10	0.87932	D	0	.	18.2281	0.89924	0.0:0.0:1.0:0.0	.	17;17;17	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	C	17	ENSP00000318852:S17C;ENSP00000446828:S17C;ENSP00000346862:S17C;ENSP00000410348:S17C;ENSP00000446953:S17C;ENSP00000446850:S17C;ENSP00000449883:S17C	ENSP00000307087:S17C	S	-	2	0	BPNT1	218319762	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	7.578000	0.82498	2.615000	0.88500	0.579000	0.79373	TCT		0.413	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		8	56	0	0	0	0	8	56				
WDR64	128025	broad.mit.edu	37	1	241958516	241958516	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:241958516G>C	ENST00000366552.2	+	25	3182	c.2975G>C	c.(2974-2976)aGa>aCa	p.R992T	WDR64_ENST00000437684.2_Missense_Mutation_p.R825T	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	992										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CAGATTCGAAGATATCCCTTG	0.428																																						uc001hzf.1		NA																	0				skin(1)	1						c.(1633-1635)AGA>ACA		WD repeat domain 64							175.0	170.0	172.0					1																	241958516		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241958516G>C	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2975G>C	1.37:g.241958516G>C	ENSP00000355510:p.Arg992Thr					WDR64_uc001hzg.1_Missense_Mutation_p.R458T	p.R545T	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		15	1787	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	992					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1634G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.17|13.17	2.158064|2.158064	0.38119|0.38119	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000425826|ENST00000366552;ENST00000437684;ENST00000414635	.|T;T;T	.|0.41758	.|1.19;0.99;1.0	5.62|5.62	-1.0|-1.0	0.10196|0.10196	.|.	.|0.633748	.|0.16065	.|N	.|0.231266	T|T	0.24812|0.24812	0.0602|0.0602	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B;B	.|0.13594	.|0.008;0.001	.|B;B	.|0.12837	.|0.008;0.001	T|T	0.16689|0.16689	-1.0394|-1.0394	5|10	.|0.56958	.|D	.|0.05	-7.0487|-7.0487	5.7585|5.7585	0.18186|0.18186	0.4769:0.1387:0.3844:0.0|0.4769:0.1387:0.3844:0.0	.|.	.|992;545	.|B1ANS9;D1MPS4	.|WDR64_HUMAN;.	H|T	471|992;825;596	.|ENSP00000355510:R992T;ENSP00000402446:R825T;ENSP00000406656:R596T	.|ENSP00000355510:R992T	D|R	+|+	1|2	0|0	WDR64|WDR64	240025139|240025139	0.134000|0.134000	0.22483|0.22483	0.016000|0.016000	0.15963|0.15963	0.807000|0.807000	0.45602|0.45602	0.026000|0.026000	0.13599|0.13599	0.064000|0.064000	0.16427|0.16427	0.462000|0.462000	0.41574|0.41574	GAT|AGA		0.428	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		28	117	0	0	0	0	28	117				
OR2T12	127064	broad.mit.edu	37	1	248458107	248458107	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:248458107C>T	ENST00000317996.1	-	1	773	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATTTGGGTCTCATATAGGTAA	0.483																																						uc010pzj.1		NA																	0				skin(2)|ovary(1)	3						c.(772-774)ATG>ATA		olfactory receptor, family 2, subfamily T,							114.0	113.0	114.0					1																	248458107		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458107C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.774G>A	1.37:g.248458107C>T	ENSP00000324583:p.Met258Ile						p.M258I	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	774	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		258			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.774G>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	5.648	0.304188	0.10678	.	.	ENSG00000177201	ENST00000317996	T	0.34859	1.34	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40064	U	0.001186	T	0.23133	0.0559	N	0.21583	0.68	0.09310	N	1	B	0.20052	0.041	B	0.29267	0.1	T	0.19679	-1.0298	10	0.52906	T	0.07	.	6.5863	0.22622	0.0:0.8313:0.0:0.1687	.	258	Q8NG77	O2T12_HUMAN	I	258	ENSP00000324583:M258I	ENSP00000324583:M258I	M	-	3	0	OR2T12	246524730	0.000000	0.05858	0.195000	0.23364	0.054000	0.15201	-0.117000	0.10708	0.645000	0.30675	0.175000	0.17021	ATG		0.483	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		50	98	0	0	0	0	50	98				
OR2T6	254879	broad.mit.edu	37	1	248551197	248551197	+	Silent	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:248551197C>A	ENST00000355728.2	+	1	288	c.288C>A	c.(286-288)gcC>gcA	p.A96A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A96E(1)|p.A96A(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTTCATCGCCTGCACTGCTC	0.532																																						uc001iei.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(2)|skin(1)	3						c.(286-288)GCC>GCA		olfactory receptor, family 2, subfamily T,							129.0	123.0	125.0					1																	248551197		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551197C>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.288C>A	1.37:g.248551197C>A							p.A96A	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	288	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		96			Extracellular (Potential).		A6NE36	Silent	SNP	ENST00000355728.2	37	c.288C>A	CCDS31114.1																																																																																				0.532	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		30	75	1	0	3.65e-15	1.45e-14	30	75				
NMT2	9397	broad.mit.edu	37	10	15151773	15151773	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr10:15151773C>G	ENST00000378165.4	-	11	1484	c.1404G>C	c.(1402-1404)aaG>aaC	p.K468N	NMT2_ENST00000378150.1_Missense_Mutation_p.K455N|NMT2_ENST00000535341.1_Missense_Mutation_p.K455N|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Missense_Mutation_p.K280N|NMT2_ENST00000466201.1_5'UTR	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	468					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CTATACCAAACTTGAGTTTTT	0.328																																					Melanoma(117;1345 1645 4130 12688 30625)	uc001inz.1		NA																	0				ovary(1)	1						c.(1402-1404)AAG>AAC		N-myristoyltransferase 2							129.0	127.0	127.0					10																	15151773		2203	4300	6503	SO:0001583	missense	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15151773C>G	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1404G>C	10.37:g.15151773C>G	ENSP00000367407:p.Lys468Asn					NMT2_uc001ioa.1_Missense_Mutation_p.K455N|NMT2_uc009xjo.1_Intron|NMT2_uc010qbz.1_Missense_Mutation_p.K280N	p.K468N	NM_004808	NP_004799	O60551	NMT2_HUMAN			11	1488	-			468					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	c.1404G>C	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151832	0.78001	.	.	ENSG00000152465	ENST00000441445;ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.56611	0.45	5.51	5.51	0.81932	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, conserved site (1);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78310	0.4263	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82946	-0.0205	10	0.87932	D	0	-28.3688	14.02	0.64547	0.0:0.9276:0.0:0.0724	.	455;468	Q5VUC6;O60551	.;NMT2_HUMAN	N	32;468;455;499;280;455	ENSP00000367407:K468N	ENSP00000367385:K499N	K	-	3	2	NMT2	15191779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.166000	0.42406	2.756000	0.94617	0.655000	0.94253	AAG		0.328	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		14	91	0	0	0	0	14	91				
OR52A4	390053	broad.mit.edu	37	11	5142746	5142746	+	RNA	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:5142746G>A	ENST00000498233.1	-	0	652							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAAACCGGGGATCCCAATAA	0.418																																						uc001lzz.1		NA																	0				ovary(2)	2						c.(61-63)ATC>ATT		olfactory receptor, family 52, subfamily A,							121.0	122.0	122.0					11																	5142746		2201	4298	6499			390053							g.chr11:5142746G>A			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142746G>A						OR52A4_uc001maa.2_RNA	p.I21I	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	63	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Silent	SNP	ENST00000498233.1	37	c.63C>T																																																																																					0.418	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		24	119	0	0	0	0	24	119				
OR5F1	338674	broad.mit.edu	37	11	55761646	55761646	+	Silent	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:55761646C>A	ENST00000278409.1	-	1	455	c.456G>T	c.(454-456)ggG>ggT	p.G152G		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	152					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGTTCAGCAACCCTGCAGCAA	0.507																																						uc010riv.1		NA																	0				ovary(1)|pancreas(1)	2						c.(454-456)GGG>GGT		olfactory receptor, family 5, subfamily F,							50.0	50.0	50.0					11																	55761646		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761646C>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.456G>T	11.37:g.55761646C>A							p.G152G	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	456	-	Esophageal squamous(21;0.00448)		152			Helical; Name=4; (Potential).		Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.456G>T	CCDS31515.1																																																																																				0.507	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		11	60	1	0	9.7e-10	3.76e-09	11	60				
GLYATL1	92292	broad.mit.edu	37	11	58723492	58723492	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:58723492C>G	ENST00000317391.4	+	8	1241	c.901C>G	c.(901-903)Cca>Gca	p.P301A	RP11-142C4.6_ENST00000525714.1_RNA|RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.P332A	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	301						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GAATCTAGTTCCATTTTAGAC	0.418																																						uc001nnf.2		NA																	0				ovary(1)	1						c.(901-903)CCA>GCA		SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	Glycine(DB00145)						49.0	50.0	50.0					11																	58723492		2201	4293	6494	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58723492C>G	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.901C>G	11.37:g.58723492C>G	ENSP00000322223:p.Pro301Ala					uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.P332A|GLYATL1_uc001nni.1_Missense_Mutation_p.P301A|GLYATL1_uc001nnj.1_Missense_Mutation_p.P301A	p.P301A			Q969I3	GLYL1_HUMAN			8	1277	+			301					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.901C>G	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	7.559	0.664310	0.14710	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.25085	2.4;1.82	1.67	1.67	0.24075	.	1.908140	0.04412	U	0.366123	T	0.20820	0.0501	L	0.36672	1.1	0.09310	N	1	B;B	0.30211	0.273;0.062	B;B	0.21546	0.035;0.005	T	0.28332	-1.0047	10	0.62326	D	0.03	.	6.6757	0.23093	0.0:1.0:0.0:0.0	.	332;301	Q969I3-2;Q969I3	.;GLYL1_HUMAN	A	278;301;332	ENSP00000322223:P301A;ENSP00000300079:P332A	ENSP00000300079:P332A	P	+	1	0	GLYATL1	58480068	0.003000	0.15002	0.029000	0.17559	0.085000	0.17905	0.499000	0.22546	0.886000	0.36113	0.411000	0.27672	CCA		0.418	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		3	86	0	0	0	0	3	86				
POLR2G	5436	broad.mit.edu	37	11	62532822	62532822	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:62532822C>T	ENST00000301788.7	+	5	449	c.344C>T	c.(343-345)tCa>tTa	p.S115L		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	115					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)|nucleotide-excision repair (GO:0006289)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translational initiation (GO:0045948)|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)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|translation initiation factor binding (GO:0031369)	p.S115L(1)		lung(3)	3						TCCATCCCTTCAGAGATGGAG	0.458																																						uc001nva.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(343-345)TCA>TTA		DNA directed RNA polymerase II polypeptide G							187.0	185.0	186.0					11																	62532822		2202	4299	6501	SO:0001583	missense	5436				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-directed RNA polymerase activity|protein binding|RNA binding	g.chr11:62532822C>T	U20659	CCDS31585.1	11q13.1	2013-01-21			ENSG00000168002	ENSG00000168002		"""RNA polymerase subunits"""	9194	protein-coding gene	gene with protein product		602013				7579693, 9256063	Standard	NM_002696		Approved	hRPB19, hsRPB7, RPB7	uc001nva.3	P62487	OTTHUMG00000167609	ENST00000301788.7:c.344C>T	11.37:g.62532822C>T	ENSP00000301788:p.Ser115Leu					POLR2G_uc001nvb.2_RNA	p.S115L	NM_002696	NP_002687	P62487	RPB7_HUMAN			5	454	+			115					B2R5C0|P52433|Q2M1Z4	Missense_Mutation	SNP	ENST00000301788.7	37	c.344C>T	CCDS31585.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805362	0.50315	.	.	ENSG00000168002	ENST00000301788;ENST00000533442	T	0.63580	-0.05	5.93	5.93	0.95920	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.78456	2.415	0.80722	D	1	B	0.18968	0.032	B	0.19148	0.024	T	0.62798	-0.6778	10	0.48119	T	0.1	-9.0806	17.8301	0.88679	0.0:1.0:0.0:0.0	.	115	P62487	RPB7_HUMAN	L	115;12	ENSP00000301788:S115L	ENSP00000301788:S115L	S	+	2	0	POLR2G	62289398	1.000000	0.71417	0.892000	0.35008	0.771000	0.43674	5.079000	0.64431	2.814000	0.96858	0.563000	0.77884	TCA		0.458	POLR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395344.1	NM_002696		28	288	0	0	0	0	28	288				
NXF1	10482	broad.mit.edu	37	11	62569082	62569082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:62569082C>T	ENST00000532297.1	-	8	1290	c.661G>A	c.(661-663)Gat>Aat	p.D221N	NXF1_ENST00000531131.1_Missense_Mutation_p.D84N|NXF1_ENST00000439713.2_Missense_Mutation_p.D221N|NXF1_ENST00000294172.2_Missense_Mutation_p.D221N|NXF1_ENST00000531709.2_Missense_Mutation_p.D221N			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	221					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGAGCCATCGTATCGTTTG	0.507																																						uc001nvf.1		NA																	0				skin(3)	3						c.(661-663)GAT>AAT		nuclear RNA export factor 1 isoform 1							170.0	169.0	170.0					11																	62569082		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62569082C>T	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.661G>A	11.37:g.62569082C>T	ENSP00000436679:p.Asp221Asn					NXF1_uc001nvg.1_Missense_Mutation_p.D221N|NXF1_uc009yog.1_Missense_Mutation_p.D264N|NXF1_uc010rmh.1_Missense_Mutation_p.D84N	p.D221N	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			7	797	-			221			Interaction with THOC4.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.661G>A	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.850648	0.91277	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	L	0.31526	0.94	0.80722	D	1	D;D;D;D	0.89917	0.993;0.965;1.0;0.993	D;B;D;P	0.79784	0.945;0.389;0.993;0.463	T	0.43196	-0.9406	10	0.13470	T	0.59	-24.35	16.8154	0.85733	0.0:1.0:0.0:0.0	.	84;264;234;221	B4E227;E9PIN3;Q59E96;Q9UBU9	.;.;.;NXF1_HUMAN	N	221;221;264;221	ENSP00000294172:D221N;ENSP00000436679:D221N;ENSP00000435742:D264N;ENSP00000408864:D221N	ENSP00000294172:D221N	D	-	1	0	NXF1	62325658	1.000000	0.71417	0.994000	0.49952	0.948000	0.59901	6.866000	0.75506	2.573000	0.86826	0.655000	0.94253	GAT		0.507	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		18	170	0	0	0	0	18	170				
EHD1	10938	broad.mit.edu	37	11	64627443	64627443	+	Missense_Mutation	SNP	C	C	A	rs375367567	byFrequency	TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:64627443C>A	ENST00000320631.3	-	3	1122	c.868G>T	c.(868-870)Gcc>Tcc	p.A290S	EHD1_ENST00000359393.2_Missense_Mutation_p.A290S	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	290					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)	p.A290T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TTCCTGAGGGCGGCGTTTCGG	0.637																																						uc001obu.1		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(868-870)GCC>TCC		EH-domain containing 1							47.0	43.0	45.0					11																	64627443		2201	4296	6497	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64627443C>A	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.868G>T	11.37:g.64627443C>A	ENSP00000320516:p.Ala290Ser					EHD1_uc001obv.1_Missense_Mutation_p.A290S|EHD1_uc010rnq.1_Missense_Mutation_p.A304S	p.A290S	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN			3	1123	-			290					O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.868G>T	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999527	0.93227	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803;ENST00000455148	D;D;D;D;T	0.95656	-3.77;-3.77;-3.77;-3.77;0.87	5.07	5.07	0.68467	.	0.097942	0.64402	D	0.000001	D	0.96065	0.8718	M	0.89414	3.03	0.80722	D	1	P;P	0.48089	0.905;0.905	B;B	0.43123	0.409;0.409	D	0.96915	0.9670	10	0.87932	D	0	.	15.9821	0.80116	0.0:1.0:0.0:0.0	.	290;290	B2R5U3;Q9H4M9	.;EHD1_HUMAN	S	290;290;266;304;154;304;154	ENSP00000320516:A290S;ENSP00000352354:A290S;ENSP00000391429:A154S;ENSP00000404944:A304S;ENSP00000396273:A154S	ENSP00000320516:A290S	A	-	1	0	EHD1	64384019	1.000000	0.71417	0.958000	0.39756	0.893000	0.52053	7.588000	0.82629	2.639000	0.89480	0.561000	0.74099	GCC		0.637	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		46	32	1	0	3.22e-24	1.3e-23	46	32				
ALKBH8	91801	broad.mit.edu	37	11	107431547	107431547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:107431547C>T	ENST00000428149.2	-	2	224	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	ALKBH8_ENST00000417449.2_Missense_Mutation_p.A28T|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000389568.3_Missense_Mutation_p.A25T|ALKBH8_ENST00000429370.1_Missense_Mutation_p.A25T	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	25					cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		GTATGCTTGGCTTTAATCTGT	0.348																																						uc010rvr.1		NA																	0					0						c.(73-75)GCC>ACC		alkB, alkylation repair homolog 8							154.0	134.0	141.0					11																	107431547		2201	4298	6499	SO:0001583	missense	91801				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|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|protein binding|RNA binding|tRNA (uracil) methyltransferase activity	g.chr11:107431547C>T	AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.73G>A	11.37:g.107431547C>T	ENSP00000415885:p.Ala25Thr					ALKBH8_uc009yxp.2_Missense_Mutation_p.A25T|ALKBH8_uc001pjl.2_RNA	p.A25T	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)	2	148	-		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)	25					B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	ENST00000428149.2	37	c.73G>A	CCDS8337.2	.	.	.	.	.	.	.	.	.	.	C	35	5.557325	0.96514	.	.	ENSG00000137760	ENST00000428149;ENST00000429370;ENST00000389568;ENST00000417449	T;T;T	0.47528	0.85;0.85;0.84	5.98	5.98	0.97165	Alkylated DNA repair protein AlkB, homologue 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69396	0.3106	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69139	-0.5224	10	0.66056	D	0.02	-5.8631	19.4402	0.94817	0.0:1.0:0.0:0.0	.	25	Q96BT7	ALKB8_HUMAN	T	25;25;25;28	ENSP00000415885:A25T;ENSP00000374219:A25T;ENSP00000397673:A28T	ENSP00000260318:A25T	A	-	1	0	ALKBH8	106936757	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.953000	0.75995	2.838000	0.97847	0.591000	0.81541	GCC		0.348	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		13	29	0	0	0	0	13	29				
OR4D5	219875	broad.mit.edu	37	11	123811175	123811175	+	Silent	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:123811175T>C	ENST00000307033.2	+	1	926	c.852T>C	c.(850-852)ccT>ccC	p.P284P		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGCTGAATCCTGCCATCTATA	0.502																																						uc001pzk.1		NA																	0				ovary(1)	1						c.(850-852)CCT>CCC		olfactory receptor, family 4, subfamily D,							114.0	107.0	109.0					11																	123811175		2202	4299	6501	SO:0001819	synonymous_variant	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811175T>C	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.852T>C	11.37:g.123811175T>C							p.P284P	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	852	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	284			Helical; Name=7; (Potential).		B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	c.852T>C	CCDS31699.1																																																																																				0.502	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		22	86	0	0	0	0	22	86				
C3AR1	719	broad.mit.edu	37	12	8211391	8211391	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:8211391C>T	ENST00000307637.4	-	2	1594	c.1391G>A	c.(1390-1392)cGt>cAt	p.R464H		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	464					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GTGGGTGGAACGTGTGAGCTC	0.473																																						uc001qtv.1		NA																	0				ovary(1)	1						c.(1390-1392)CGT>CAT		complement component 3a receptor 1							113.0	108.0	109.0					12																	8211391		2203	4300	6503	SO:0001583	missense	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211391C>T	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1391G>A	12.37:g.8211391C>T	ENSP00000302079:p.Arg464His						p.R464H	NM_004054	NP_004045	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	1483	-			464			Cytoplasmic (Potential).		O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	c.1391G>A	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.765345	0.00651	.	.	ENSG00000171860	ENST00000307637	T	0.73047	-0.71	5.26	-3.92	0.04155	.	0.713412	0.12075	N	0.501820	T	0.26484	0.0647	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40997	-0.9533	10	0.23302	T	0.38	.	6.2237	0.20695	0.0:0.3006:0.3854:0.314	.	464	Q16581	C3AR_HUMAN	H	464	ENSP00000302079:R464H	ENSP00000302079:R464H	R	-	2	0	C3AR1	8102658	0.000000	0.05858	0.041000	0.18516	0.168000	0.22595	-0.099000	0.11007	-0.423000	0.07394	-0.285000	0.09966	CGT		0.473	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			34	91	0	0	0	0	34	91				
PHC1	1911	broad.mit.edu	37	12	9092018	9092018	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:9092018A>T	ENST00000543824.1	+	16	3310	c.2978A>T	c.(2977-2979)aAg>aTg	p.K993M	PHC1_ENST00000544916.1_Missense_Mutation_p.K993M|PHC1_ENST00000433083.2_Missense_Mutation_p.K948M|PHC1_ENST00000536844.1_Missense_Mutation_p.K599M			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	993	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CCTGCCCTCAAGATCTGCGCC	0.488																																						uc001qvd.2		NA																	0				ovary(1)|breast(1)	2						c.(2977-2979)AAG>ATG		polyhomeotic 1-like							21.0	20.0	20.0					12																	9092018		2201	4277	6478	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9092018A>T	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2978A>T	12.37:g.9092018A>T	ENSP00000440674:p.Lys993Met					PHC1_uc001qve.2_Missense_Mutation_p.K993M	p.K993M	NM_004426	NP_004417	P78364	PHC1_HUMAN			15	3134	+			993			SAM.		D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.2978A>T	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.177128	0.57692	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.42	5.42	0.78866	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.86368	0.5916	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91230	0.5013	10	0.87932	D	0	-9.6811	15.1412	0.72612	1.0:0.0:0.0:0.0	.	993	P78364	PHC1_HUMAN	M	993;993;948;993;599	ENSP00000440674:K993M;ENSP00000251757:K993M;ENSP00000399194:K948M;ENSP00000437659:K993M;ENSP00000440488:K599M	ENSP00000251757:K993M	K	+	2	0	PHC1	8983285	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.062000	0.61559	0.528000	0.53228	AAG		0.488	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		13	14	0	0	0	0	13	14				
PZP	5858	broad.mit.edu	37	12	9353588	9353588	+	Silent	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:9353588G>C	ENST00000261336.2	-	6	598	c.570C>G	c.(568-570)tcC>tcG	p.S190S	PZP_ENST00000381997.2_Silent_p.S59S	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	190					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGAGGGGAAAGGACAACTGAT	0.498																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(568-570)TCC>TCG		pregnancy-zone protein precursor							138.0	131.0	134.0					12																	9353588		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9353588G>C	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.570C>G	12.37:g.9353588G>C						PZP_uc009zgl.2_Silent_p.S59S	p.S190S	NM_002864	NP_002855					6	599	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.570C>G	CCDS8600.1																																																																																				0.498	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		27	130	0	0	0	0	27	130				
PRB4	5545	broad.mit.edu	37	12	11461798	11461798	+	Missense_Mutation	SNP	C	C	T	rs77336955		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:11461798C>T	ENST00000535904.1	-	3	152	c.119G>A	c.(118-120)cGc>cAc	p.R40H	PRB4_ENST00000279575.1_Missense_Mutation_p.R40H|PRB4_ENST00000445719.2_Missense_Mutation_p.R40H			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	40	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)		p.R40P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TCCTTGTGGGCGTCGTCCTTC	0.552										HNSCC(22;0.051)																												uc001qzf.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(118-120)CGC>CAC		proline-rich protein BstNI subfamily 4							191.0	204.0	199.0					12																	11461798		2195	4293	6488	SO:0001583	missense	5545					extracellular region		g.chr12:11461798C>T		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.119G>A	12.37:g.11461798C>T	ENSP00000442834:p.Arg40His	HNSCC(22;0.051)				PRB4_uc001qzt.2_Missense_Mutation_p.R40H	p.R40H	NM_002723	NP_002714	P10163	PRB4_HUMAN			3	153	-			40			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|1.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.119G>A	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	3.688	-0.064180	0.07273	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04360	3.64;3.64;3.64	0.569	-1.14	0.09741	.	.	.	.	.	T	0.02083	0.0065	N	0.22421	0.69	0.09310	N	1	P	0.49559	0.925	B	0.26416	0.069	T	0.47522	-0.9111	8	0.41790	T	0.15	.	.	.	.	.	40	E9PAL0	.	H	40	ENSP00000279575:R40H;ENSP00000442834:R40H;ENSP00000412740:R40H	ENSP00000279575:R40H	R	-	2	0	PRB4	11353065	0.000000	0.05858	0.005000	0.12908	0.019000	0.09904	-4.122000	0.00290	-0.244000	0.09639	-1.266000	0.01441	CGC		0.552	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		33	444	0	0	0	0	33	444				
DNM1L	10059	broad.mit.edu	37	12	32886735	32886735	+	Silent	SNP	T	T	C	rs377443517		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:32886735T>C	ENST00000549701.1	+	13	1607	c.1533T>C	c.(1531-1533)aaT>aaC	p.N511N	DNM1L_ENST00000547312.1_Silent_p.N511N|DNM1L_ENST00000414834.2_Silent_p.N308N|DNM1L_ENST00000266481.6_Silent_p.N511N|DNM1L_ENST00000358214.5_Silent_p.N524N|DNM1L_ENST00000553257.1_Silent_p.N524N|DNM1L_ENST00000381000.4_Silent_p.N524N|DNM1L_ENST00000452533.2_Silent_p.N511N|YARS2_ENST00000551673.1_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	511	B domain.|Interaction with GSK3B.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGAACAATAATATAGAGGTAA	0.303																																						uc001rld.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1531-1533)AAT>AAC		dynamin 1-like isoform 1		T	,,	1,4405	2.1+/-5.4	0,1,2202	129.0	134.0	132.0		1533,1533,1533	0.4	1.0	12		132	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	DNM1L	NM_005690.3,NM_012062.3,NM_012063.2	,,	0,1,6500	CC,CT,TT		0.0,0.0227,0.0077	,,	511/700,511/737,511/711	32886735	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32886735T>C	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1533T>C	12.37:g.32886735T>C						DNM1L_uc001rle.2_Silent_p.N511N|DNM1L_uc001rlf.2_Silent_p.N511N|DNM1L_uc010skh.1_Silent_p.N577N|DNM1L_uc001rlg.2_Silent_p.N577N|DNM1L_uc001rlh.2_Silent_p.N564N|DNM1L_uc010ski.1_Silent_p.N308N	p.N511N	NM_012062	NP_036192	O00429	DNM1L_HUMAN			13	1694	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		511			Interaction with GSK3B.|B domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	ENST00000549701.1	37	c.1533T>C	CCDS8729.1																																																																																				0.303	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		53	148	0	0	0	0	53	148				
SCAF11	9169	broad.mit.edu	37	12	46315837	46315837	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:46315837T>C	ENST00000369367.3	-	15	4619	c.4386A>G	c.(4384-4386)atA>atG	p.I1462M	SCAF11_ENST00000465950.1_Missense_Mutation_p.I1147M|SCAF11_ENST00000549162.1_Missense_Mutation_p.I1270M|SCAF11_ENST00000419565.2_Missense_Mutation_p.I1462M|SCAF11_ENST00000550629.1_Intron	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1462					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CATTTCAGCCTATGTTTTTTT	0.378																																						uc001rox.2		NA																	0					0						c.(4384-4386)ATA>ATG		splicing factor, arginine/serine-rich 2,							193.0	191.0	192.0					12																	46315837		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46315837T>C	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.4386A>G	12.37:g.46315837T>C	ENSP00000358374:p.Ile1462Met					SFRS2IP_uc001row.2_Missense_Mutation_p.I1147M	p.I1462M	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	15	4673	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	1462					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.4386A>G	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767195	0.31320	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.38077	1.16;1.9;1.16;1.9	4.93	-1.0	0.10196	.	0.570150	0.13542	N	0.380094	T	0.15132	0.0365	N	0.08118	0	0.21915	N	0.999471	B	0.16802	0.019	B	0.14023	0.01	T	0.14868	-1.0457	10	0.45353	T	0.12	-0.3867	4.0985	0.10002	0.0:0.2194:0.3516:0.429	.	1462	Q99590	SCAFB_HUMAN	M	1147;1462;1270;1462	ENSP00000449812:I1147M;ENSP00000358374:I1462M;ENSP00000448864:I1270M;ENSP00000413036:I1462M	ENSP00000358374:I1462M	I	-	3	3	SCAF11	44602104	0.043000	0.20138	0.904000	0.35570	0.971000	0.66376	-0.399000	0.07250	-0.021000	0.14009	0.460000	0.39030	ATA		0.378	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		3	148	0	0	0	0	3	148				
OR6C1	390321	broad.mit.edu	37	12	55714812	55714812	+	Silent	SNP	T	T	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:55714812T>G	ENST00000379668.2	+	1	467	c.429T>G	c.(427-429)gtT>gtG	p.V143V		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CACTGCTTGTTTTTACTTCTT	0.408																																						uc010spi.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(427-429)GTT>GTG		olfactory receptor, family 6, subfamily C,							46.0	43.0	44.0					12																	55714812		2203	4300	6503	SO:0001819	synonymous_variant	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55714812T>G	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.429T>G	12.37:g.55714812T>G							p.V143V	NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN			1	429	+			143			Helical; Name=4; (Potential).		B2RNM0	Silent	SNP	ENST00000379668.2	37	c.429T>G	CCDS31818.1																																																																																				0.408	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		6	22	0	0	0	0	6	22				
COQ10A	93058	broad.mit.edu	37	12	56663287	56663287	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:56663287T>C	ENST00000308197.5	+	4	779	c.518T>C	c.(517-519)aTt>aCt	p.I173T	COQ10A_ENST00000433805.2_Missense_Mutation_p.I141T|RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Missense_Mutation_p.I156T	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	173						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						TTAGAGACTATTTGGCGATTC	0.438																																						uc001sko.3		NA																	0				ovary(1)	1						c.(517-519)ATT>ACT		coenzyme Q10 homolog A isoform a							182.0	168.0	173.0					12																	56663287		1945	4167	6112	SO:0001583	missense	93058					mitochondrial inner membrane		g.chr12:56663287T>C	AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog A (yeast)"""				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.518T>C	12.37:g.56663287T>C	ENSP00000312587:p.Ile173Thr					COQ10A_uc001skp.3_Missense_Mutation_p.I141T|COQ10A_uc001skq.3_Missense_Mutation_p.I156T	p.I173T	NM_144576	NP_653177	Q96MF6	CQ10A_HUMAN			4	779	+			173					Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Missense_Mutation	SNP	ENST00000308197.5	37	c.518T>C	CCDS41796.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.02|12.02	1.811478|1.811478	0.32053|0.32053	.|.	.|.	ENSG00000135469|ENSG00000135469	ENST00000553234|ENST00000308197;ENST00000433805;ENST00000546544	.|T;T;T	.|0.20881	.|2.04;2.07;2.05	4.3|4.3	3.12|3.12	0.35913|0.35913	.|START-like domain (1);	.|0.049194	.|0.85682	.|D	.|0.000000	T|T	0.10637|0.10637	0.0260|0.0260	N|N	0.17800|0.17800	0.525|0.525	0.51767|0.51767	D|D	0.999931|0.999931	.|B;B;B	.|0.25105	.|0.036;0.043;0.118	.|B;B;B	.|0.23716	.|0.016;0.03;0.048	T|T	0.15378|0.15378	-1.0439|-1.0439	5|10	.|0.13853	.|T	.|0.58	.|.	6.2464|6.2464	0.20820|0.20820	0.1585:0.0:0.1644:0.6771|0.1585:0.0:0.1644:0.6771	.|.	.|156;178;173	.|Q96MF6-2;Q8TAL2;Q96MF6	.|.;.;CQ10A_HUMAN	L|T	79|173;141;156	.|ENSP00000312587:I173T;ENSP00000407843:I141T;ENSP00000446723:I156T	.|ENSP00000312587:I173T	F|I	+|+	1|2	0|0	COQ10A|COQ10A	54949554|54949554	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.488000|1.488000	0.35551|0.35551	0.783000|0.783000	0.33636|0.33636	0.459000|0.459000	0.35465|0.35465	TTT|ATT		0.438	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1	NM_144576		22	143	0	0	0	0	22	143				
LEMD3	23592	broad.mit.edu	37	12	65564805	65564805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:65564805C>G	ENST00000308330.2	+	1	1455	c.1429C>G	c.(1429-1431)Ctc>Gtc	p.L477V	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	477					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GTCGATGTTTCTCTTAACTGC	0.478																																						uc001ssl.1		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1429-1431)CTC>GTC		LEM domain containing 3							102.0	82.0	89.0					12																	65564805		2203	4300	6503	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65564805C>G	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1429C>G	12.37:g.65564805C>G	ENSP00000308369:p.Leu477Val					LEMD3_uc009zqo.1_Missense_Mutation_p.L477V	p.L477V	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	1	1435	+			477			Helical; (Potential).		Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.1429C>G	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476528	0.84640	.	.	ENSG00000174106	ENST00000308330	T	0.63096	-0.02	5.3	5.3	0.74995	.	0.206918	0.41712	D	0.000832	T	0.64170	0.2574	N	0.24115	0.695	0.80722	D	1	D	0.63046	0.992	P	0.57425	0.82	T	0.61594	-0.7031	9	.	.	.	-8.7126	18.9509	0.92641	0.0:1.0:0.0:0.0	.	477	Q9Y2U8	MAN1_HUMAN	V	477	ENSP00000308369:L477V	.	L	+	1	0	LEMD3	63851072	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.434000	0.80377	2.646000	0.89796	0.462000	0.41574	CTC		0.478	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			23	38	0	0	0	0	23	38				
PPFIA2	8499	broad.mit.edu	37	12	81777935	81777935	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:81777935A>T	ENST00000549396.1	-	9	1011	c.851T>A	c.(850-852)aTg>aAg	p.M284K	PPFIA2_ENST00000552948.1_Missense_Mutation_p.M284K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.M131K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.M210K|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000548586.1_Missense_Mutation_p.M284K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.M266K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.M266K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550584.2_Missense_Mutation_p.M284K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.M185K	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	284	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CATCTGGGCCATTTCATAGTT	0.413																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(850-852)ATG>AAG		PTPRF interacting protein alpha 2							103.0	100.0	101.0					12																	81777935		1868	4103	5971	SO:0001583	missense	8499							g.chr12:81777935A>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.851T>A	12.37:g.81777935A>T	ENSP00000450337:p.Met284Lys					PPFIA2_uc010sue.1_Missense_Mutation_p.M184K|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.M284K	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			9	1012	-			210					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.851T>A	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.84|19.84	3.902886|3.902886	0.72754|0.72754	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000548790	T;T;T;T;T;T;T|.	0.35421|.	1.31;1.31;1.31;1.31;1.31;1.31;1.31|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.054413|.	0.85682|.	D|.	0.000000|.	T|T	0.40196|0.40196	0.1107|0.1107	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.28128|.	0.201;0.046|.	B;B|.	0.29267|.	0.1;0.029|.	T|T	0.35475|0.35475	-0.9787|-0.9787	10|5	0.87932|.	D|.	0|.	-21.3737|-21.3737	16.0659|16.0659	0.80870|0.80870	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	184;284|.	B7Z4H8;O75334|.	.;LIPA2_HUMAN|.	K|R	284;266;210;295;266;284;185;284|102	ENSP00000450337:M284K;ENSP00000450298:M266K;ENSP00000385093:M210K;ENSP00000327416:M266K;ENSP00000449338:M284K;ENSP00000388373:M185K;ENSP00000447868:M284K|.	ENSP00000327416:M266K|.	M|W	-|-	2|1	0|0	PPFIA2|PPFIA2	80302066|80302066	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.287000|9.287000	0.95975|0.95975	2.196000|2.196000	0.70406|0.70406	0.455000|0.455000	0.32223|0.32223	ATG|TGG		0.413	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			10	25	0	0	0	0	10	25				
TMTC3	160418	broad.mit.edu	37	12	88589416	88589416	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:88589416A>G	ENST00000266712.6	+	14	2955	c.2735A>G	c.(2734-2736)aAt>aGt	p.N912S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	913					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CGTATTTTAAATGGTGAATAA	0.333																																						uc001tau.2		NA																	0				skin(1)	1						c.(2734-2736)AAT>AGT		transmembrane and tetratricopeptide repeat							40.0	42.0	42.0					12																	88589416		2203	4295	6498	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88589416A>G		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2735A>G	12.37:g.88589416A>G	ENSP00000266712:p.Asn912Ser						p.N912S	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			14	2955	+			913					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.2735A>G	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.735289	0.30774	.	.	ENSG00000139324	ENST00000266712	T	0.60299	0.2	5.38	5.38	0.77491	.	0.148508	0.64402	D	0.000013	T	0.35682	0.0940	N	0.08118	0	0.38428	D	0.946374	B	0.12630	0.006	B	0.12156	0.007	T	0.28902	-1.0029	10	0.35671	T	0.21	-19.8138	10.1501	0.42788	0.9249:0.0:0.0751:0.0	.	912	Q6ZXV5-2	.	S	912	ENSP00000266712:N912S	ENSP00000266712:N912S	N	+	2	0	TMTC3	87113547	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.728000	0.68531	2.183000	0.69458	0.477000	0.44152	AAT		0.333	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		12	50	0	0	0	0	12	50				
TXNRD1	7296	broad.mit.edu	37	12	104732985	104732985	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:104732985G>A	ENST00000529546.1	+	13	1476	c.1251G>A	c.(1249-1251)gcG>gcA	p.A417A	TXNRD1_ENST00000388854.3_Silent_p.A507A|TXNRD1_ENST00000354940.6_Silent_p.A455A|TXNRD1_ENST00000524698.1_Silent_p.A455A|TXNRD1_ENST00000503506.2_Silent_p.A455A|TXNRD1_ENST00000540716.1_Silent_p.A417A|TXNRD1_ENST00000427956.1_Silent_p.A570A|TXNRD1_ENST00000525566.1_Silent_p.A605A|TXNRD1_ENST00000526950.1_Silent_p.A524A|TXNRD1_ENST00000542918.1_Silent_p.A505A|TXNRD1_ENST00000378070.4_Silent_p.A554A|TXNRD1_ENST00000526691.1_Silent_p.A507A|TXNRD1_ENST00000429002.2_Silent_p.A605A|TXNRD1_ENST00000526390.1_Silent_p.A499A|TXNRD1_ENST00000397736.2_Silent_p.A499A			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	605					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TTGCAGCTGCGCTCAAATGTG	0.433																																					Ovarian(139;555 1836 9186 9946 10884)	uc010swk.1		NA																	0					0						c.(1813-1815)GCG>GCA		thioredoxin reductase 1 isoform 3							96.0	95.0	95.0					12																	104732985		1940	4139	6079	SO:0001819	synonymous_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104732985G>A		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.1251G>A	12.37:g.104732985G>A						TXNRD1_uc010swl.1_Silent_p.A455A|TXNRD1_uc010swm.1_Silent_p.A507A|TXNRD1_uc010swn.1_Silent_p.A455A|TXNRD1_uc010swo.1_Silent_p.A455A|TXNRD1_uc010swp.1_Silent_p.A417A|TXNRD1_uc010swq.1_Silent_p.A505A|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Silent_p.A521A	p.A605A	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN			16	1837	+			605					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	ENST00000529546.1	37	c.1815G>A	CCDS58274.1																																																																																				0.433	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		9	29	0	0	0	0	9	29				
ZCCHC8	55596	broad.mit.edu	37	12	122958362	122958362	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:122958362C>A	ENST00000336229.4	-	14	1936	c.1806G>T	c.(1804-1806)gaG>gaT	p.E602D	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.E364D|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E364D|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.E213D	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	602					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GTGATGTCACCTCAGAGTCTG	0.463																																						uc001ucn.2		NA																	0					0						c.(1804-1806)GAG>GAT		zinc finger, CCHC domain containing 8							152.0	149.0	150.0					12																	122958362		1927	4136	6063	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958362C>A	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1806G>T	12.37:g.122958362C>A	ENSP00000337313:p.Glu602Asp					ZCCHC8_uc001ucl.2_Missense_Mutation_p.E213D|ZCCHC8_uc001ucm.2_Missense_Mutation_p.E364D|ZCCHC8_uc009zxp.2_Missense_Mutation_p.E364D|ZCCHC8_uc009zxq.2_Missense_Mutation_p.E364D	p.E602D	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	14	1937	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		602					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.1806G>T		.	.	.	.	.	.	.	.	.	.	C	10.07	1.248724	0.22880	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116	T;T;T;T	0.46451	0.89;0.89;0.87;0.87	5.04	4.14	0.48551	.	0.348447	0.33916	N	0.004433	T	0.32823	0.0842	L	0.54323	1.7	0.24571	N	0.993928	B	0.06786	0.001	B	0.08055	0.003	T	0.20009	-1.0288	10	0.20519	T	0.43	-7.8285	6.3681	0.21465	0.1374:0.6562:0.1327:0.0737	.	602	Q6NZY4	ZCHC8_HUMAN	D	364;364;602;213	ENSP00000441423:E364D;ENSP00000438993:E364D;ENSP00000337313:E602D;ENSP00000440028:E213D	ENSP00000337313:E602D	E	-	3	2	ZCCHC8	121524315	0.002000	0.14202	0.051000	0.19133	0.035000	0.12851	0.460000	0.21924	1.094000	0.41399	0.637000	0.83480	GAG		0.463	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		7	250	1	0	0.00198382	0.00719273	7	250				
RIMBP2	23504	broad.mit.edu	37	12	130921489	130921489	+	Silent	SNP	T	T	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:130921489T>G	ENST00000261655.4	-	10	2116	c.1953A>C	c.(1951-1953)tcA>tcC	p.S651S	RIMBP2_ENST00000536002.1_Silent_p.S559S|RIMBP2_ENST00000535703.1_Silent_p.S559S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	651	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCGGCTGGGTGAGGGCGACC	0.726																																						uc001uil.2		NA																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(1951-1953)TCA>TCC		RIM-binding protein 2							16.0	20.0	19.0					12																	130921489		2185	4289	6474	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130921489T>G	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1953A>C	12.37:g.130921489T>G						RIMBP2_uc001uim.2_Silent_p.S559S|RIMBP2_uc001uin.1_Silent_p.S310S	p.S651S	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	2117	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	651			Pro-rich.		Q96ID2	Silent	SNP	ENST00000261655.4	37	c.1953A>C	CCDS31925.1																																																																																				0.726	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		6	18	0	0	0	0	6	18				
SACS	26278	broad.mit.edu	37	13	23910945	23910945	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:23910945T>A	ENST00000382292.3	-	9	7343	c.7070A>T	c.(7069-7071)gAa>gTa	p.E2357V	SACS_ENST00000382298.3_Missense_Mutation_p.E2357V|SACS_ENST00000402364.1_Missense_Mutation_p.E1607V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2357					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGAAACCTTTTCTGAGTCAAC	0.333																																						uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(7069-7071)GAA>GTA		sacsin							65.0	66.0	65.0					13																	23910945		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23910945T>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7070A>T	13.37:g.23910945T>A	ENSP00000371729:p.Glu2357Val					SACS_uc001uoo.2_Missense_Mutation_p.E2210V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.E2357V	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	7659	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2357					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.7070A>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	6.747	0.506654	0.12883	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.92446	-3.04;-3.04;-3.04	5.68	1.77	0.24775	.	0.267280	0.37348	N	0.002124	D	0.84800	0.5552	L	0.36672	1.1	0.27099	N	0.962661	B	0.17038	0.02	B	0.14023	0.01	T	0.72912	-0.4148	10	0.34782	T	0.22	.	6.6395	0.22901	0.0:0.1564:0.2054:0.6382	.	2357	Q9NZJ4	SACS_HUMAN	V	2357;1607;2357	ENSP00000371729:E2357V;ENSP00000385844:E1607V;ENSP00000371735:E2357V	ENSP00000371729:E2357V	E	-	2	0	SACS	22808945	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	3.046000	0.49846	0.453000	0.26858	0.533000	0.62120	GAA		0.333	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		25	50	0	0	0	0	25	50				
FOXO1	2308	broad.mit.edu	37	13	41134865	41134865	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:41134865C>T	ENST00000379561.5	-	2	1147	c.763G>A	c.(763-765)Gca>Aca	p.A255T	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	255					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TCCATGGATGCAGCTCTTCTC	0.517																																						uc001uxl.3		NA																PAX3/FOXO1(749)|PAX7/FOXO1(197)	0				soft_tissue(946)|lung(1)|central_nervous_system(1)	948						c.(763-765)GCA>ACA		forkhead box O1							105.0	104.0	104.0					13																	41134865		2203	4300	6503	SO:0001583	missense	2308				anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr13:41134865C>T		CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.763G>A	13.37:g.41134865C>T	ENSP00000368880:p.Ala255Thr					FOXO1_uc010acc.1_Missense_Mutation_p.A70T	p.A255T	NM_002015	NP_002006	Q12778	FOXO1_HUMAN		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)	2	1148	-		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	255					O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	37	c.763G>A	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.930018	0.92389	.	.	ENSG00000150907	ENST00000379561	D	0.94457	-3.43	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.94427	0.8207	N	0.22421	0.69	0.80722	D	1	D;P	0.89917	1.0;0.851	D;B	0.87578	0.998;0.408	D	0.90947	0.4802	10	0.09843	T	0.71	-12.2713	19.1256	0.93382	0.0:1.0:0.0:0.0	.	229;255	F8TAD1;Q12778	.;FOXO1_HUMAN	T	255	ENSP00000368880:A255T	ENSP00000368880:A255T	A	-	1	0	FOXO1	40032865	1.000000	0.71417	0.891000	0.34965	0.902000	0.53008	7.487000	0.81328	2.763000	0.94921	0.563000	0.77884	GCA		0.517	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		18	149	0	0	0	0	18	149				
TSC22D1	8848	broad.mit.edu	37	13	45148997	45148997	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:45148997G>A	ENST00000458659.2	-	1	1704	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Missense_Mutation_p.S405L	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	405					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCTGAACCTCGAAGTGTTAAC	0.438																																						uc001uzn.3		NA																	0					0						c.(1213-1215)TCG>TTG		TSC22 domain family, member 1 isoform 1							107.0	100.0	102.0					13																	45148997		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148997G>A	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1214C>T	13.37:g.45148997G>A	ENSP00000397435:p.Ser405Leu					TSC22D1_uc001uzo.1_Missense_Mutation_p.S405L	p.S405L	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1705	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	405					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.1214C>T	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673574	0.67928	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	T	0.58060	0.36	4.71	4.71	0.59529	.	0.000000	0.50627	D	0.000109	T	0.72179	0.3428	M	0.76170	2.325	0.51482	D	0.999923	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.76116	-0.3077	10	0.72032	D	0.01	.	16.3799	0.83452	0.0:0.0:1.0:0.0	.	405;405	B3KRL7;Q15714	.;T22D1_HUMAN	L	405	ENSP00000397435:S405L	ENSP00000397435:S405L	S	-	2	0	TSC22D1	44046997	1.000000	0.71417	0.962000	0.40283	0.965000	0.64279	7.562000	0.82300	2.453000	0.82957	0.561000	0.74099	TCG		0.438	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		25	83	0	0	0	0	25	83				
OLFM4	10562	broad.mit.edu	37	13	53608558	53608558	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:53608558T>A	ENST00000219022.2	+	2	358	c.280T>A	c.(280-282)Ttt>Att	p.F94I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	94					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AGACACCACCTTTCCCGTGGA	0.443																																						uc001vhl.2		NA																	0				skin(1)	1						c.(280-282)TTT>ATT		olfactomedin 4 precursor							122.0	103.0	110.0					13																	53608558		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53608558T>A	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.280T>A	13.37:g.53608558T>A	ENSP00000219022:p.Phe94Ile					OLFM4_uc001vhk.1_Missense_Mutation_p.F94I	p.F94I	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	2	280	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	94					O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.280T>A	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065735	0.76187	.	.	ENSG00000102837	ENST00000219022	D	0.90504	-2.68	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.91257	0.7244	M	0.63428	1.95	0.52099	D	0.999948	P	0.47545	0.897	P	0.50352	0.638	D	0.89764	0.3949	10	0.29301	T	0.29	.	13.747	0.62881	0.0:0.0:0.0:1.0	.	94	Q6UX06	OLFM4_HUMAN	I	94	ENSP00000219022:F94I	ENSP00000219022:F94I	F	+	1	0	OLFM4	52506559	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.439000	0.66556	2.126000	0.65437	0.533000	0.62120	TTT		0.443	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		10	84	0	0	0	0	10	84				
DIAPH3	81624	broad.mit.edu	37	13	60413536	60413536	+	Missense_Mutation	SNP	C	C	A	rs539256757		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:60413536C>A	ENST00000400324.4	-	23	3004	c.2784G>T	c.(2782-2784)caG>caT	p.Q928H	DIAPH3_ENST00000377908.2_Missense_Mutation_p.Q917H|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.Q858H|DIAPH3_ENST00000400320.1_Missense_Mutation_p.Q882H|DIAPH3_ENST00000267215.4_Missense_Mutation_p.Q928H|DIAPH3_ENST00000400330.1_Missense_Mutation_p.Q928H	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	928	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)		GCTGTTGAAGCTGCCTTCCCA	0.383																																						uc001vht.2		NA																	0				ovary(2)	2						c.(2782-2784)CAG>CAT		diaphanous homolog 3 isoform a							88.0	83.0	85.0					13																	60413536		1854	4102	5956	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60413536C>A	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.2784G>T	13.37:g.60413536C>A	ENSP00000383178:p.Gln928His					DIAPH3_uc001vhu.2_Missense_Mutation_p.Q665H	p.Q928H	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	23	3003	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	928			FH2.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.2784G>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426694	0.62733	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;2.25	5.19	2.48	0.30137	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.058591	0.64402	D	0.000001	T	0.71929	0.3398	L	0.58354	1.805	0.33695	D	0.613792	B;D	0.89917	0.208;1.0	B;D	0.87578	0.195;0.998	T	0.76865	-0.2801	10	0.41790	T	0.15	.	10.5624	0.45152	0.0:0.7029:0.0:0.2971	.	665;928	Q9NSV4-1;Q9NSV4	.;DIAP3_HUMAN	H	928;928;917;882;858;917;858;882;928;665;928	ENSP00000383178:Q928H;ENSP00000383184:Q928H;ENSP00000367141:Q917H;ENSP00000383173:Q858H;ENSP00000383174:Q882H;ENSP00000267215:Q928H	ENSP00000267214:Q665H	Q	-	3	2	DIAPH3	59311537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.974000	0.40559	0.698000	0.31739	0.591000	0.81541	CAG		0.383	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		16	38	1	0	1.15e-07	4.41e-07	16	38				
SLITRK1	114798	broad.mit.edu	37	13	84455394	84455394	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:84455394A>T	ENST00000377084.2	-	1	1134	c.249T>A	c.(247-249)aaT>aaA	p.N83K		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	83					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AACTAACCGCATTATAAAAGT	0.463																																						uc001vlk.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(247-249)AAT>AAA		slit and trk like 1 protein precursor							69.0	71.0	70.0					13																	84455394		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455394A>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.249T>A	13.37:g.84455394A>T	ENSP00000366288:p.Asn83Lys						p.N83K	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1135	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	83			Extracellular (Potential).|LRR 2.		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.249T>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.558318	0.27827	.	.	ENSG00000178235	ENST00000377084	T	0.54675	0.56	4.79	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	L	0.28054	0.825	0.48288	D	0.999626	P	0.50369	0.934	P	0.52309	0.695	T	0.21965	-1.0230	10	0.23302	T	0.38	-9.5056	9.5824	0.39495	0.9157:0.0:0.0843:0.0	.	83	Q96PX8	SLIK1_HUMAN	K	83	ENSP00000366288:N83K	ENSP00000366288:N83K	N	-	3	2	SLITRK1	83353395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.302000	0.43637	0.842000	0.35045	0.459000	0.35465	AAT		0.463	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		31	65	0	0	0	0	31	65				
COL4A2	1284	broad.mit.edu	37	13	111102707	111102707	+	Silent	SNP	C	C	G	rs367980559		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:111102707C>G	ENST00000360467.5	+	20	1551	c.1245C>G	c.(1243-1245)ccC>ccG	p.P415P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	415	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.P415P(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCGGAGACCCCGGCATCCCTG	0.637																																						uc001vqx.2		NA																	1	Substitution - coding silent(1)		kidney(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(1243-1245)CCC>CCG		alpha 2 type IV collagen preproprotein							47.0	52.0	50.0					13																	111102707		1894	4120	6014	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111102707C>G	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1245C>G	13.37:g.111102707C>G							p.P415P	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		20	1534	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	415			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.1245C>G	CCDS41907.1																																																																																				0.637	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		3	81	0	0	0	0	3	81				
NID2	22795	broad.mit.edu	37	14	52520462	52520462	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr14:52520462G>T	ENST00000216286.5	-	5	1263	c.1264C>A	c.(1264-1266)Ccc>Acc	p.P422T	NID2_ENST00000541773.1_Missense_Mutation_p.P369T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	422					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCTGGGTAGGGCTGGATGCTT	0.552																																						uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(1264-1266)CCC>ACC		nidogen 2 precursor							94.0	88.0	90.0					14																	52520462		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520462G>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1264C>A	14.37:g.52520462G>T	ENSP00000216286:p.Pro422Thr					NID2_uc010tqs.1_Missense_Mutation_p.P422T|NID2_uc010tqt.1_Missense_Mutation_p.P422T|NID2_uc001wzp.2_Missense_Mutation_p.P422T	p.P422T	NM_007361	NP_031387	Q14112	NID2_HUMAN			5	1498	-	Breast(41;0.0639)|all_epithelial(31;0.123)		422					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1264C>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	7.865	0.726800	0.15439	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.83075	-1.68;-1.58	4.97	2.98	0.34508	.	0.466412	0.23065	N	0.052339	T	0.64011	0.2560	N	0.14661	0.345	0.09310	N	1	P;P;B	0.35077	0.465;0.483;0.017	B;B;B	0.34242	0.178;0.122;0.004	T	0.52830	-0.8523	10	0.28530	T	0.3	.	4.1395	0.10186	0.213:0.1961:0.591:0.0	.	369;424;422	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	T	422;369;424	ENSP00000216286:P422T;ENSP00000443730:P369T	ENSP00000216286:P422T	P	-	1	0	NID2	51590212	0.254000	0.23992	0.057000	0.19452	0.195000	0.23768	1.786000	0.38694	1.043000	0.40175	0.563000	0.77884	CCC		0.552	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			23	59	1	0	1.11e-12	4.37e-12	23	59				
SYNE2	23224	broad.mit.edu	37	14	64468762	64468762	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr14:64468762A>T	ENST00000344113.4	+	29	3961	c.3749A>T	c.(3748-3750)cAt>cTt	p.H1250L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.H1250L|SYNE2_ENST00000358025.3_Missense_Mutation_p.H1250L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1250					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGGGATTTCATCTCATTGAT	0.418																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(3748-3750)CAT>CTT		spectrin repeat containing, nuclear envelope 2							133.0	129.0	130.0					14																	64468762		1911	4111	6022	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64468762A>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3749A>T	14.37:g.64468762A>T	ENSP00000341781:p.His1250Leu					SYNE2_uc001xgl.2_Missense_Mutation_p.H1250L	p.H1250L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	29	3979	+			1250			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.3749A>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	3.574	-0.087016	0.07097	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.55760	0.86;0.86;0.5	5.3	0.116	0.14647	.	0.636943	0.14418	N	0.320842	T	0.35913	0.0948	L	0.47716	1.5	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.25537	-1.0129	10	0.11182	T	0.66	.	4.6995	0.12820	0.5714:0.0:0.2961:0.1326	.	1250;1250	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	L	1250	ENSP00000350719:H1250L;ENSP00000341781:H1250L;ENSP00000452570:H1250L	ENSP00000261678:H1250L	H	+	2	0	SYNE2	63538515	0.049000	0.20398	0.000000	0.03702	0.085000	0.17905	0.379000	0.20585	-0.145000	0.11294	-0.993000	0.02533	CAT		0.418	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		33	81	0	0	0	0	33	81				
IFT43	112752	broad.mit.edu	37	14	76549919	76549919	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr14:76549919G>C	ENST00000314067.6	+	9	660	c.626G>C	c.(625-627)tGa>tCa	p.*209S	IFT43_ENST00000238628.6_Nonstop_Mutation_p.*214S	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	0					cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGGCACACCTGAGCCCGTCAC	0.512																																						uc010asm.1		NA																	0					0						c.(625-627)TGA>TCA		hypothetical protein LOC112752 isoform 2							47.0	49.0	48.0					14																	76549919		2203	4300	6503	SO:0001578	stop_lost	112752				cilium morphogenesis|intraflagellar retrograde transport			g.chr14:76549919G>C	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.626G>C	14.37:g.76549919G>C	ENSP00000324177:p.*209Serext*13					C14orf179_uc001xsg.2_Nonstop_Mutation_p.*214S|C14orf179_uc010tve.1_RNA	p.*209S	NM_001102564	NP_001096034	Q96FT9	IFT43_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0199)	9	660	+			209					B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Nonstop_Mutation	SNP	ENST00000314067.6	37	c.626G>C	CCDS41973.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323890	0.24080	.	.	ENSG00000119650	ENST00000314067;ENST00000238628	.	.	.	4.61	2.76	0.32466	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1458	0.31110	0.1875:0.0:0.8125:0.0	.	.	.	.	S	209;214	.	.	X	+	2	2	IFT43	75619672	1.000000	0.71417	0.206000	0.23566	0.143000	0.21401	4.033000	0.57282	0.934000	0.37316	0.655000	0.94253	TGA		0.512	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873		6	57	0	0	0	0	6	57				
ESRRB	2103	broad.mit.edu	37	14	76957942	76957942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr14:76957942C>T	ENST00000509242.1	+	7	1038	c.940C>T	c.(940-942)Ctc>Ttc	p.L314F	ESRRB_ENST00000556177.1_Missense_Mutation_p.L314F|ESRRB_ENST00000380887.2_Missense_Mutation_p.L314F|ESRRB_ENST00000261532.7_Missense_Mutation_p.L314F	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	314					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GCACTCCCGCCTCGCGGGGCT	0.592																																						uc001xsq.1		NA																	0				ovary(1)|skin(1)	2						c.(940-942)CTC>TTC		estrogen-related receptor beta							47.0	40.0	42.0					14																	76957942		2201	4296	6497	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76957942C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.940C>T	14.37:g.76957942C>T	ENSP00000422488:p.Leu314Phe					ESRRB_uc001xsr.2_Missense_Mutation_p.L314F|ESRRB_uc001xso.2_RNA	p.L314F	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	6	1007	+			314					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.940C>T	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662565	0.67700	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11;-4.11	6.06	6.06	0.98353	.	0.072360	0.56097	D	0.000022	D	0.95652	0.8586	M	0.66939	2.045	0.53688	D	0.999972	P;P	0.39376	0.67;0.67	B;B	0.43950	0.437;0.437	D	0.94541	0.7745	10	0.56958	D	0.05	.	10.8679	0.46866	0.0:0.8611:0.0:0.1389	.	314;319	Q5F0P7;E7EWD9	.;.	F	319;314;314;314;314	ENSP00000424992:L319F;ENSP00000422488:L314F;ENSP00000451658:L314F;ENSP00000370270:L314F;ENSP00000261532:L314F	ENSP00000261532:L314F	L	+	1	0	ESRRB	76027695	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	3.932000	0.56537	2.882000	0.98803	0.655000	0.94253	CTC		0.592	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			4	9	0	0	0	0	4	9				
PTPN21	11099	broad.mit.edu	37	14	88945598	88945598	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr14:88945598C>G	ENST00000556564.1	-	13	2461	c.2177G>C	c.(2176-2178)cGg>cCg	p.R726P	PTPN21_ENST00000328736.3_Missense_Mutation_p.R726P	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	726					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGGAGGCGCCCGGGCCCCGCT	0.701																																						uc001xwv.3		NA																	0				ovary(3)|skin(1)	4						c.(2176-2178)CGG>CCG		protein tyrosine phosphatase, non-receptor type							25.0	26.0	26.0					14																	88945598		2201	4297	6498	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945598C>G	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2177G>C	14.37:g.88945598C>G	ENSP00000452414:p.Arg726Pro					PTPN21_uc010twc.1_Missense_Mutation_p.R522P	p.R726P	NM_007039	NP_008970	Q16825	PTN21_HUMAN			13	2508	-			726						Missense_Mutation	SNP	ENST00000556564.1	37	c.2177G>C	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717869	0.30413	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.72615	-0.67;-0.67	5.06	-3.46	0.04767	.	1.351030	0.04621	N	0.401952	T	0.35508	0.0934	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12041	-1.0563	10	0.22109	T	0.4	.	4.0736	0.09894	0.3475:0.3521:0.0:0.3004	.	726	Q16825	PTN21_HUMAN	P	726	ENSP00000330276:R726P;ENSP00000452414:R726P	ENSP00000330276:R726P	R	-	2	0	PTPN21	88015351	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.400000	0.02504	-1.199000	0.02666	0.313000	0.20887	CGG		0.701	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			3	20	0	0	0	0	3	20				
MAGEL2	54551	broad.mit.edu	37	15	23889583	23889583	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr15:23889583A>G	ENST00000532292.1	-	1	1592	c.1498T>C	c.(1498-1500)Tcc>Ccc	p.S500P		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	383					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TCTAAATAGGATGCCACCAAA	0.423																																						uc001ywj.3		NA																	0					0						c.(1498-1500)TCC>CCC		MAGE-like protein 2							89.0	85.0	86.0					15																	23889583		1906	4120	6026	SO:0001583	missense	54551							g.chr15:23889583A>G	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1498T>C	15.37:g.23889583A>G	ENSP00000433433:p.Ser500Pro						p.S500P	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1593	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1498T>C																																																																																					0.423	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		5	40	0	0	0	0	5	40				
NDN	4692	broad.mit.edu	37	15	23931584	23931584	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr15:23931584A>G	ENST00000331837.4	-	1	866	c.781T>C	c.(781-783)Ttt>Ctt	p.F261L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	261	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GAGCCCCAAAAGAACTCGTAT	0.572									Prader-Willi syndrome																													uc001ywk.2		NA																	0					0						c.(781-783)TTT>CTT		necdin							32.0	33.0	33.0					15																	23931584		2203	4300	6503	SO:0001583	missense	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931584A>G	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.781T>C	15.37:g.23931584A>G	ENSP00000332643:p.Phe261Leu						p.F261L	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	867	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	261			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.781T>C	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	A	2.121	-0.401504	0.04865	.	.	ENSG00000182636	ENST00000331837	T	0.03951	3.75	3.22	2.1	0.27182	.	0.307812	0.30556	N	0.009364	T	0.01124	0.0037	N	0.00403	-1.54	0.30259	N	0.793335	B	0.20988	0.05	B	0.27380	0.079	T	0.44097	-0.9350	10	0.02654	T	1	.	5.1767	0.15139	0.8657:0.0:0.1343:0.0	.	261	Q99608	NECD_HUMAN	L	261	ENSP00000332643:F261L	ENSP00000332643:F261L	F	-	1	0	NDN	21482677	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	2.536000	0.45693	0.632000	0.30432	0.459000	0.35465	TTT		0.572	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		5	56	0	0	0	0	5	56				
PYGO1	26108	broad.mit.edu	37	15	55838317	55838317	+	Silent	SNP	T	T	A	rs199699382	byFrequency	TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr15:55838317T>A	ENST00000302000.6	-	3	1258	c.1164A>T	c.(1162-1164)gcA>gcT	p.A388A	PYGO1_ENST00000563719.1_Silent_p.A388A	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	388	Interaction with BCL9.|Interaction with H3K4me2.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		AGCCCCATACTGCAGATGCTT	0.448																																						uc010bfl.1		NA																	0				ovary(1)|skin(1)	2						c.(1162-1164)GCA>GCT		pygopus homolog 1							117.0	99.0	105.0					15																	55838317		2193	4292	6485	SO:0001819	synonymous_variant	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55838317T>A	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.1164A>T	15.37:g.55838317T>A						PYGO1_uc002adf.1_Silent_p.A388A	p.A388A	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	1220	-			388			PHD-type.		A7Y2D6	Silent	SNP	ENST00000302000.6	37	c.1164A>T	CCDS10155.1																																																																																				0.448	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		25	60	0	0	0	0	25	60				
LRRC28	123355	broad.mit.edu	37	15	99901641	99901641	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr15:99901641G>A	ENST00000301981.3	+	8	1036	c.796G>A	c.(796-798)Gag>Aag	p.E266K	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.E266K|LRRC28_ENST00000422500.2_Missense_Mutation_p.E197K|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000331450.5_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	266										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CATAGGGACGGAGCATGATCA	0.522											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002bva.1		NA																	0					0						c.(796-798)GAG>AAG		leucine rich repeat containing 28							195.0	156.0	169.0					15																	99901641		2197	4297	6494	SO:0001583	missense	123355							g.chr15:99901641G>A	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.796G>A	15.37:g.99901641G>A	ENSP00000304923:p.Glu266Lys		OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1347	LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_Missense_Mutation_p.E112K|LRRC28_uc010urt.1_Missense_Mutation_p.E80K|LRRC28_uc002bvc.1_Missense_Mutation_p.E266K|LRRC28_uc010uru.1_Missense_Mutation_p.E197K|LRRC28_uc002bvd.1_Intron	p.E266K	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		8	951	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		266					A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	c.796G>A	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921586	0.52653	.	.	ENSG00000168904	ENST00000301981;ENST00000447360;ENST00000422500	T;T;T	0.45276	0.94;0.9;1.48	5.25	5.25	0.73442	.	0.140001	0.64402	D	0.000005	T	0.40222	0.1108	L	0.56769	1.78	0.80722	D	1	B;B;B	0.27068	0.124;0.167;0.018	B;B;B	0.28011	0.05;0.085;0.016	T	0.30357	-0.9981	10	0.07644	T	0.81	.	18.2103	0.89868	0.0:0.0:1.0:0.0	.	197;266;266	B4DHL3;Q86X40-2;Q86X40	.;.;LRC28_HUMAN	K	266;266;197	ENSP00000304923:E266K;ENSP00000404520:E266K;ENSP00000398606:E197K	ENSP00000304923:E266K	E	+	1	0	LRRC28	97719164	1.000000	0.71417	0.218000	0.23776	0.562000	0.35680	4.697000	0.61782	2.611000	0.88343	0.655000	0.94253	GAG		0.522	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598		59	63	0	0	0	0	59	63				
SMG1	23049	broad.mit.edu	37	16	18875116	18875116	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr16:18875116T>C	ENST00000446231.2	-	25	3963	c.3551A>G	c.(3550-3552)aAt>aGt	p.N1184S	SMG1_ENST00000389467.3_Missense_Mutation_p.N1184S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1184	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCCTAAATAATTTATAACCTC	0.403																																						uc002dfm.2		NA																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(3550-3552)AAT>AGT		PI-3-kinase-related kinase SMG-1							36.0	36.0	36.0					16																	18875116		904	2031	2935	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18875116T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.3551A>G	16.37:g.18875116T>C	ENSP00000402515:p.Asn1184Ser					SMG1_uc010bwb.2_Missense_Mutation_p.N1044S	p.N1184S	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			25	3914	-			1184			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.3551A>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	.	13.58	2.279166	0.40294	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.65916	-0.18;-0.18	4.48	3.38	0.38709	PIK-related kinase (1);Armadillo-type fold (1);	0.110728	0.39475	N	0.001358	T	0.43678	0.1258	N	0.22421	0.69	0.26228	N	0.979054	P	0.49961	0.93	B	0.42916	0.402	T	0.32402	-0.9908	10	0.11485	T	0.65	.	9.7923	0.40713	0.0:0.082:0.0:0.918	.	1184	Q96Q15	SMG1_HUMAN	S	1184	ENSP00000402515:N1184S;ENSP00000374118:N1184S	ENSP00000374118:N1184S	N	-	2	0	SMG1	18782617	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.201000	0.58439	0.709000	0.31976	0.449000	0.29647	AAT		0.403	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		13	36	0	0	0	0	13	36				
CHST4	10164	broad.mit.edu	37	16	71570812	71570812	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr16:71570812G>A	ENST00000338482.5	+	3	575	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	CHST4_ENST00000572450.1_Missense_Mutation_p.V78M|ZNF19_ENST00000568446.1_Intron|RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.V78M			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	78					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CGCCTGGCACGTGTGGATGAC	0.577																																						uc002fan.2		NA																	0					0						c.(232-234)GTG>ATG		carbohydrate (N-acetylglucosamine 6-O)							102.0	102.0	102.0					16																	71570812		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71570812G>A	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.232G>A	16.37:g.71570812G>A	ENSP00000341206:p.Val78Met					CHST4_uc002fao.2_Missense_Mutation_p.V78M	p.V78M	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN			2	413	+			78			Lumenal (Potential).		Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.232G>A	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901646	0.72754	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.96885	-4.16;-4.16	6.0	4.01	0.46588	Sulfotransferase domain (1);	0.063724	0.64402	D	0.000007	D	0.97816	0.9283	M	0.84773	2.715	0.42190	D	0.991725	D	0.89917	1.0	D	0.74348	0.983	D	0.97830	1.0262	10	0.87932	D	0	-22.166	10.6313	0.45538	0.1511:0.0:0.8489:0.0	.	78	Q8NCG5	CHST4_HUMAN	M	78	ENSP00000341206:V78M;ENSP00000441204:V78M	ENSP00000341206:V78M	V	+	1	0	CHST4	70128313	1.000000	0.71417	0.993000	0.49108	0.925000	0.55904	5.818000	0.69236	0.819000	0.34492	0.655000	0.94253	GTG		0.577	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		30	62	0	0	0	0	30	62				
OR1A2	26189	broad.mit.edu	37	17	3101177	3101177	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr17:3101177G>A	ENST00000381951.1	+	1	365	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	122					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						GCATACGATCGAGCTGTGGCC	0.483																																						uc002fvd.1		NA																	0				skin(2)	2						c.(364-366)CGA>CAA		olfactory receptor, family 1, subfamily A,							156.0	129.0	138.0					17																	3101177		2203	4300	6503	SO:0001583	missense	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101177G>A	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.365G>A	17.37:g.3101177G>A	ENSP00000371377:p.Arg122Gln						p.R122Q	NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN			1	365	+			122			Cytoplasmic (Potential).		Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	c.365G>A	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120250	0.56613	.	.	ENSG00000172150	ENST00000381951	T	0.76968	-1.06	4.09	-0.293	0.12835	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000395	T	0.81908	0.4922	M	0.93062	3.375	0.09310	N	0.999999	D	0.59357	0.985	P	0.47573	0.55	T	0.75897	-0.3155	10	0.72032	D	0.01	.	8.3496	0.32295	0.3489:0.0:0.6511:0.0	.	122	Q9Y585	OR1A2_HUMAN	Q	122	ENSP00000371377:R122Q	ENSP00000371377:R122Q	R	+	2	0	OR1A2	3047927	0.989000	0.36119	0.002000	0.10522	0.568000	0.35870	4.716000	0.61916	-0.085000	0.12573	0.603000	0.83216	CGA		0.483	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		32	60	0	0	0	0	32	60				
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr17:7578275G>A	ENST00000269305.4	-	6	763	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000420246.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*	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	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)	ATAAGATGCTGAGGAGGGGCC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)	p.Q192*(64)|p.0?(7)|p.Q192R(5)|p.A189_V197delAPPQHLIRV(4)|p.Q192H(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.Q192Q(2)|p.P191del(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)	breast(26)|ovary(20)|urinary_tract(15)|lung(12)|upper_aerodigestive_tract(10)|skin(8)|biliary_tract(7)|oesophagus(7)|large_intestine(6)|kidney(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(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						c.(574-576)CAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							89.0	80.0	83.0					17																	7578275		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578275G>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.574C>T	17.37:g.7578275G>A	ENSP00000269305:p.Gln192*	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_Nonsense_Mutation_p.Q192*|TP53_uc002gih.2_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.1_Nonsense_Mutation_p.Q153*	p.Q192*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	768	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	192		Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; 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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.574C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269040	0.40095	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	3.36	0.38483	.	0.242461	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.6404	8.6971	0.34303	0.0:0.1484:0.545:0.3066	.	.	.	.	X	192;192;192;192;192;192;181;99;60;99;60	.	ENSP00000269305:Q192X	Q	-	1	0	TP53	7519000	1.000000	0.71417	0.987000	0.45799	0.035000	0.12851	2.163000	0.42377	0.732000	0.32470	0.655000	0.94253	CAG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	21	0	0	0	0	15	21				
KDM6B	23135	broad.mit.edu	37	17	7752094	7752094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr17:7752094G>A	ENST00000448097.2	+	11	2819	c.2488G>A	c.(2488-2490)Ggg>Agg	p.G830R	KDM6B_ENST00000254846.5_Missense_Mutation_p.G830R			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	830	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)			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						CACCCGGCCTGGGCCCTTGCC	0.682																																						uc002giw.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(2488-2490)GGG>AGG		lysine (K)-specific demethylase 6B							57.0	65.0	63.0					17																	7752094		2202	4297	6499	SO:0001583	missense	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.chr17:7752094G>A	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.2488G>A	17.37:g.7752094G>A	ENSP00000412513:p.Gly830Arg					KDM6B_uc002gix.2_Missense_Mutation_p.G132R	p.G830R	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			11	2864	+			830			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2488G>A		.	.	.	.	.	.	.	.	.	.	G	12.96	2.094127	0.36952	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.17054	2.3;2.3	4.47	4.47	0.54385	.	0.237273	0.29355	N	0.012391	T	0.19604	0.0471	N	0.14661	0.345	0.37108	D	0.900209	D;D	0.59357	0.975;0.985	P;P	0.58820	0.577;0.846	T	0.07986	-1.0744	10	0.87932	D	0	-17.918	10.6833	0.45828	0.0942:0.0:0.9058:0.0	.	830;830	O15054;O15054-1	KDM6B_HUMAN;.	R	830	ENSP00000254846:G830R;ENSP00000412513:G830R	ENSP00000254846:G830R	G	+	1	0	KDM6B	7692819	0.996000	0.38824	1.000000	0.80357	0.954000	0.61252	2.750000	0.47500	2.490000	0.84030	0.462000	0.41574	GGG		0.682	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		9	131	0	0	0	0	9	131				
ICAM2	3384	broad.mit.edu	37	17	62081229	62081229	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr17:62081229G>T	ENST00000412356.1	-	5	778	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	ICAM2_ENST00000579788.1_Missense_Mutation_p.L142M|ICAM2_ENST00000579687.1_Missense_Mutation_p.L142M|ICAM2_ENST00000449662.2_Missense_Mutation_p.L142M|ICAM2_ENST00000418105.1_Missense_Mutation_p.L142M|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578892.1_Missense_Mutation_p.L118M|ICAM2_ENST00000578379.1_Missense_Mutation_p.L41M	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	142	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						AGGCTGTCCAGGGGCTCCACG	0.607																																						uc002jdu.3		NA																	0				ovary(1)	1						c.(424-426)CTG>ATG		intercellular adhesion molecule 2 precursor							61.0	56.0	58.0					17																	62081229		2203	4300	6503	SO:0001583	missense	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62081229G>T		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.424C>A	17.37:g.62081229G>T	ENSP00000415283:p.Leu142Met					C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Missense_Mutation_p.L142M|ICAM2_uc010ded.2_Missense_Mutation_p.L142M|ICAM2_uc002jdx.3_Missense_Mutation_p.L142M|ICAM2_uc002jdv.3_Missense_Mutation_p.L142M	p.L142M	NM_000873	NP_000864	P13598	ICAM2_HUMAN			3	656	-			142			Ig-like C2-type 2.|Extracellular (Potential).		Q14600	Missense_Mutation	SNP	ENST00000412356.1	37	c.424C>A	CCDS11657.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945992	0.53079	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	T;T;T	0.03607	3.87;3.87;3.87	5.13	2.06	0.26882	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.359956	0.25971	N	0.027137	T	0.13030	0.0316	M	0.75777	2.31	0.29036	N	0.88536	D	0.89917	1.0	D	0.77557	0.99	T	0.02567	-1.1140	10	0.41790	T	0.15	-17.6625	7.2244	0.26007	0.2821:0.0:0.7179:0.0	.	142	P13598	ICAM2_HUMAN	M	142	ENSP00000415283:L142M;ENSP00000388666:L142M;ENSP00000392634:L142M	ENSP00000415283:L142M	L	-	1	2	ICAM2	59434961	1.000000	0.71417	0.700000	0.30305	0.891000	0.51852	2.262000	0.43285	0.188000	0.20168	0.462000	0.41574	CTG		0.607	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			7	45	1	0	0.000157383	0.000575447	7	45				
MAPK4	5596	broad.mit.edu	37	18	48252451	48252451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr18:48252451C>T	ENST00000400384.2	+	5	2009	c.973C>T	c.(973-975)Caa>Taa	p.Q325*	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Nonsense_Mutation_p.Q114*	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	325					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCCCACCTCACAACACCCCTT	0.582																																						uc002lev.2		NA																	0				lung(4)|skin(2)	6						c.(973-975)CAA>TAA		mitogen-activated protein kinase 4							113.0	116.0	115.0					18																	48252451		2116	4229	6345	SO:0001587	stop_gained	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48252451C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.973C>T	18.37:g.48252451C>T	ENSP00000383234:p.Gln325*					MAPK4_uc010xdm.1_Nonsense_Mutation_p.Q114*|MAPK4_uc010doz.2_Intron	p.Q325*	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	5	1973	+		Colorectal(6;0.0297)	325					A1A4C4|Q0VG04	Nonsense_Mutation	SNP	ENST00000400384.2	37	c.973C>T	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944751	0.73672	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	.	.	.	4.92	4.05	0.47172	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-22.9676	13.6023	0.62026	0.1567:0.8433:0.0:0.0	.	.	.	.	X	325;114	.	ENSP00000383234:Q325X	Q	+	1	0	MAPK4	46506449	0.072000	0.21174	0.988000	0.46212	0.259000	0.26198	1.595000	0.36708	1.076000	0.40961	-0.152000	0.13540	CAA		0.582	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		36	31	0	0	0	0	36	31				
CDH19	28513	broad.mit.edu	37	18	64172067	64172067	+	Silent	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr18:64172067T>A	ENST00000262150.2	-	12	2593	c.2301A>T	c.(2299-2301)gcA>gcT	p.A767A		NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 7. {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)				TTGACTGCACTGCAGAACCAA	0.388																																						uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(2299-2301)GCA>GCT		cadherin 19, type 2 preproprotein							70.0	65.0	66.0					18																	64172067		2203	4300	6503	SO:0001819	synonymous_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64172067T>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.2301A>T	18.37:g.64172067T>A						CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR	p.A767A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			12	2439	-		Esophageal squamous(42;0.0132)	767			Cytoplasmic (Potential).		O15098	Silent	SNP	ENST00000262150.2	37	c.2301A>T	CCDS11994.1																																																																																				0.388	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		18	19	0	0	0	0	18	19				
FBN3	84467	broad.mit.edu	37	19	8191467	8191467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:8191467C>T	ENST00000600128.1	-	20	2853	c.2439G>A	c.(2437-2439)tgG>tgA	p.W813*	FBN3_ENST00000270509.2_Nonsense_Mutation_p.W813*|FBN3_ENST00000601739.1_Nonsense_Mutation_p.W813*			Q75N90	FBN3_HUMAN	fibrillin 3	813	TB 4.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGATCTTCAGCCAGCAGGTGC	0.677																																						uc002mjf.2		NA																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(2437-2439)TGG>TGA		fibrillin 3 precursor							38.0	35.0	36.0					19																	8191467		2203	4300	6503	SO:0001587	stop_gained	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8191467C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2439G>A	19.37:g.8191467C>T	ENSP00000470498:p.Trp813*						p.W813*	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			19	2460	-			813			TB 4.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Nonsense_Mutation	SNP	ENST00000600128.1	37	c.2439G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	44	10.544779	0.99425	.	.	ENSG00000142449	ENST00000270509	.	.	.	3.63	3.63	0.41609	.	0.073068	0.64402	U	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2946	0.73894	0.0:1.0:0.0:0.0	.	.	.	.	X	813	.	ENSP00000270509:W813X	W	-	3	0	FBN3	8097467	1.000000	0.71417	0.983000	0.44433	0.934000	0.57294	5.344000	0.65981	1.587000	0.49959	0.313000	0.20887	TGG		0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		6	12	0	0	0	0	6	12				
OR10H2	26538	broad.mit.edu	37	19	15839701	15839701	+	Missense_Mutation	SNP	C	C	T	rs374921134		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:15839701C>T	ENST00000305899.3	+	1	868	c.848C>T	c.(847-849)aCg>aTg	p.T283M		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCAGTCCTCACGCCCTTCCTC	0.547																																						uc002nbm.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(847-849)ACG>ATG		olfactory receptor, family 10, subfamily H,		C	MET/THR	0,4406		0,0,2203	116.0	98.0	104.0		848	3.4	0.7	19		104	1,8599		0,1,4299	no	missense	OR10H2	NM_013939.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	283/316	15839701	1,13005	2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839701C>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.848C>T	19.37:g.15839701C>T	ENSP00000306095:p.Thr283Met						p.T283M	NM_013939	NP_039227	O60403	O10H2_HUMAN			1	868	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		283			Helical; Name=7; (Potential).		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.848C>T	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	13.76	2.333889	0.41297	0.0	1.16E-4	ENSG00000171942	ENST00000305899	T	0.38401	1.14	3.39	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000103	T	0.64560	0.2609	M	0.89840	3.065	0.25042	N	0.991191	D	0.89917	1.0	D	0.97110	1.0	T	0.60490	-0.7253	10	0.87932	D	0	.	12.3273	0.55018	0.0:1.0:0.0:0.0	.	283	O60403	O10H2_HUMAN	M	283	ENSP00000306095:T283M	ENSP00000306095:T283M	T	+	2	0	OR10H2	15700701	0.003000	0.15002	0.729000	0.30791	0.510000	0.34073	1.489000	0.35562	1.441000	0.47550	0.531000	0.56144	ACG		0.547	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			29	119	0	0	0	0	29	119				
MEF2B	100271849	broad.mit.edu	37	19	19260222	19260222	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:19260222C>G	ENST00000602424.2	-	5	797	c.71G>C	c.(70-72)cGg>cCg	p.R24P	MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000424583.2_Missense_Mutation_p.R24P|MEF2B_ENST00000162023.5_Missense_Mutation_p.R24P|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R24P|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R41P|MEF2B_ENST00000410050.1_Missense_Mutation_p.R24P|MEF2B_ENST00000409224.1_Missense_Mutation_p.R24P|MEF2B_ENST00000409447.2_Missense_Mutation_p.R24P	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	24	Lys-rich (basic).|MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CCCGAACTTCCGCTTGGTGAA	0.562																																						uc002nlm.2		NA																	0				skin(1)	1						c.(70-72)CGG>CCG		myocyte enhancer factor 2B isoform a							109.0	92.0	98.0					19																	19260222		2203	4300	6503	SO:0001583	missense	100271849							g.chr19:19260222C>G	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"""Myocyte enhancer factors"""	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.71G>C	19.37:g.19260222C>G	ENSP00000473308:p.Arg24Pro					MEF2B_uc002nln.2_Missense_Mutation_p.R71P|MEF2B_uc002nll.2_Missense_Mutation_p.R24P|LOC729991-MEF2B_uc010xqo.1_Missense_Mutation_p.R24P|LOC729991-MEF2B_uc010xqp.1_Missense_Mutation_p.R24P|LOC729991-MEF2B_uc002nlo.2_Missense_Mutation_p.R24P|LOC729991-MEF2B_uc002nlp.2_Missense_Mutation_p.R24P|MEF2B_uc002nlk.2_Missense_Mutation_p.R24P	p.R24P	NM_001145785	NP_001139257			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)		3	185	-								A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	ENST00000602424.2	37	c.71G>C	CCDS12394.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430046	0.62844	.	.	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000409447;ENST00000162023	D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91	5.33	5.33	0.75918	Transcription factor, MADS-box (6);	0.000000	0.64402	D	0.000001	D	0.98789	0.9592	H	0.99058	4.415	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.999;1.0;1.0	D	0.99529	1.0960	10	0.87932	D	0	-25.5504	16.5018	0.84259	0.0:1.0:0.0:0.0	.	24;71;24;24;24	Q02080;B8ZZJ5;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.;.	P	24;24;24;24;71;24	ENSP00000386480:R24P;ENSP00000402154:R24P;ENSP00000386374:R24P;ENSP00000390762:R24P;ENSP00000162023:R24P	ENSP00000162023:R24P	R	-	2	0	MEF2B	19121222	1.000000	0.71417	0.988000	0.46212	0.169000	0.22640	7.704000	0.84595	2.503000	0.84419	0.561000	0.74099	CGG		0.562	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		16	54	0	0	0	0	16	54				
ZNF43	7594	broad.mit.edu	37	19	21990434	21990434	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:21990434G>A	ENST00000354959.4	-	4	2574	c.2405C>T	c.(2404-2406)cCt>cTt	p.P802L	ZNF43_ENST00000595461.1_Missense_Mutation_p.P796L|ZNF43_ENST00000598381.1_Missense_Mutation_p.P796L|ZNF43_ENST00000594012.1_Missense_Mutation_p.P796L	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	802					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AAAAGTTTGAGGTGTTGTCAA	0.313																																						uc002nqj.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2404-2406)CCT>CTT		zinc finger protein 43							42.0	43.0	43.0					19																	21990434		2203	4299	6502	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990434G>A	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2405C>T	19.37:g.21990434G>A	ENSP00000347045:p.Pro802Leu					ZNF43_uc010ecv.2_Missense_Mutation_p.P796L|ZNF43_uc002nql.2_Missense_Mutation_p.P796L|ZNF43_uc002nqm.2_Missense_Mutation_p.P796L|ZNF43_uc002nqk.2_Missense_Mutation_p.P732L	p.P802L	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	2535	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	802					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.2405C>T	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476771	0.26511	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.04654	3.58	1.76	-2.94	0.05581	.	.	.	.	.	T	0.01940	0.0061	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48747	-0.9008	9	0.11182	T	0.66	.	3.1831	0.06592	0.4828:0.2232:0.2941:0.0	.	802	P17038	ZNF43_HUMAN	L	801;802	ENSP00000347045:P802L	ENSP00000347045:P802L	P	-	2	0	ZNF43	21782274	0.000000	0.05858	0.001000	0.08648	0.102000	0.19082	-2.700000	0.00824	-0.253000	0.09514	0.305000	0.20034	CCT		0.313	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		9	43	0	0	0	0	9	43				
NR1H2	7376	broad.mit.edu	37	19	50881485	50881485	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:50881485C>T	ENST00000253727.5	+	5	496	c.261C>T	c.(259-261)tgC>tgT	p.C87C	NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000599105.1_Silent_p.C87C|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000593926.1_Silent_p.C87C|NR1H2_ENST00000598168.1_Silent_p.C87C	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	87					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACGAGCTTTGCCGTGTCTGTG	0.637																																						uc010enw.2		NA																	0					0						c.(259-261)TGC>TGT		nuclear receptor subfamily 1, group H, member 2							90.0	109.0	103.0					19																	50881485		2187	4297	6484	SO:0001819	synonymous_variant	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50881485C>T	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.261C>T	19.37:g.50881485C>T						NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Silent_p.C87C|NR1H2_uc002psa.3_Intron	p.C87C	NM_007121	NP_009052	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	5	537	+		all_neural(266;0.057)	87			Nuclear receptor.|NR C4-type.		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	37	c.261C>T	CCDS42593.1																																																																																				0.637	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			5	161	0	0	0	0	5	161				
CEACAM18	729767	broad.mit.edu	37	19	51984689	51984689	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:51984689T>C	ENST00000396477.4	+	3	464	c.443T>C	c.(442-444)cTg>cCg	p.L148P	CEACAM18_ENST00000451626.1_Missense_Mutation_p.L209P	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	148										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCCAGCTCCCTGGTGGAGAAC	0.507																																						uc002pwv.1		NA																	0				skin(1)	1						c.(625-627)CTG>CCG		carcinoembryonic antigen-related cell adhesion							61.0	60.0	60.0					19																	51984689		2032	4182	6214	SO:0001583	missense	729767					integral to membrane		g.chr19:51984689T>C			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.443T>C	19.37:g.51984689T>C	ENSP00000379738:p.Leu148Pro						p.L209P	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	626	+		all_neural(266;0.0529)	209					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.626T>C		.	.	.	.	.	.	.	.	.	.	.	4.376	0.069329	0.08436	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.05580	3.42	2.82	2.82	0.32997	.	.	.	.	.	T	0.04634	0.0126	N	0.20845	0.615	0.19300	N	0.999971	B	0.25390	0.125	B	0.24006	0.05	T	0.35126	-0.9801	9	0.44086	T	0.13	-6.4341	7.5072	0.27551	0.0:0.0:0.0:1.0	.	209	A8MTB9	CEA18_HUMAN	P	209;148;148	ENSP00000402203:L209P	ENSP00000379738:L148P	L	+	2	0	CEACAM18	56676501	0.001000	0.12720	0.008000	0.14137	0.022000	0.10575	0.267000	0.18552	1.554000	0.49487	0.456000	0.33151	CTG		0.507	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			27	23	0	0	0	0	27	23				
NBAS	51594	broad.mit.edu	37	2	15415923	15415923	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:15415923C>T	ENST00000281513.5	-	44	5434	c.5409G>A	c.(5407-5409)ctG>ctA	p.L1803L	NBAS_ENST00000441750.1_Silent_p.L1683L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1803					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTTCATCTGTCAGCTTTTTGT	0.363																																						uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(5407-5409)CTG>CTA		neuroblastoma-amplified protein							46.0	48.0	47.0					2																	15415923		2203	4298	6501	SO:0001819	synonymous_variant	51594							g.chr2:15415923C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5409G>A	2.37:g.15415923C>T						NBAS_uc010exl.1_Silent_p.L875L|NBAS_uc002rcd.1_RNA	p.L1803L	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			44	5435	-			1803					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.5409G>A	CCDS1685.1																																																																																				0.363	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		6	93	0	0	0	0	6	93				
AGBL5	60509	broad.mit.edu	37	2	27278036	27278036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:27278036C>T	ENST00000360131.4	+	6	982	c.823C>T	c.(823-825)Ccc>Tcc	p.P275S	AGBL5_ENST00000323064.8_Missense_Mutation_p.P275S|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	275					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGATGATCCCCGGGCCCA	0.537																																						uc002rie.2		NA																	0				ovary(1)|breast(1)	2						c.(823-825)CCC>TCC		ATP/GTP binding protein-like 5 isoform 1							143.0	139.0	140.0					2																	27278036		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27278036C>T	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.823C>T	2.37:g.27278036C>T	ENSP00000353249:p.Pro275Ser					AGBL5_uc002ric.2_Missense_Mutation_p.P275S|AGBL5_uc002rid.2_Missense_Mutation_p.P275S|AGBL5_uc002rif.2_RNA	p.P275S	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN			6	1040	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		275					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.823C>T	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	35	5.504219	0.96371	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.10860	2.83;2.83	6.11	6.11	0.99139	Peptidase M14, carboxypeptidase A (1);	0.044219	0.85682	D	0.000000	T	0.33904	0.0879	M	0.64567	1.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.00091	-1.2084	10	0.48119	T	0.1	0.2132	20.3293	0.98710	0.0:1.0:0.0:0.0	.	275;275;275	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	S	275	ENSP00000323681:P275S;ENSP00000353249:P275S	ENSP00000323681:P275S	P	+	1	0	AGBL5	27131540	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.453000	0.80700	2.906000	0.99361	0.655000	0.94253	CCC		0.537	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		29	189	0	0	0	0	29	189				
DPP10	57628	broad.mit.edu	37	2	116510763	116510763	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:116510763A>C	ENST00000410059.1	+	11	1444	c.964A>C	c.(964-966)Act>Cct	p.T322P	DPP10_ENST00000393147.2_Missense_Mutation_p.T326P|DPP10_ENST00000409163.1_Missense_Mutation_p.T272P|DPP10_ENST00000310323.8_Missense_Mutation_p.T315P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	322						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						ATACTATATCACTATGGTTAA	0.358																																						uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(964-966)ACT>CCT		dipeptidyl peptidase 10 isoform long							89.0	80.0	83.0					2																	116510763		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116510763A>C	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.964A>C	2.37:g.116510763A>C	ENSP00000386565:p.Thr322Pro					DPP10_uc002tlb.1_Missense_Mutation_p.T272P|DPP10_uc002tlc.1_Missense_Mutation_p.T318P|DPP10_uc002tle.2_Missense_Mutation_p.T326P|DPP10_uc002tlf.1_Missense_Mutation_p.T315P	p.T322P	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			11	1421	+			322			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.964A>C	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.291908	0.80914	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.1	5.1	0.69264	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.92317	3.295	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.998	D;D;D;D	0.79108	0.978;0.978;0.992;0.987	T	0.76702	-0.2862	10	0.72032	D	0.01	-12.8711	14.2231	0.65841	1.0:0.0:0.0:0.0	.	315;326;318;322	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	P	322;272;326;315;272	ENSP00000386565:T322P;ENSP00000387038:T272P;ENSP00000376855:T326P;ENSP00000309066:T315P	ENSP00000309066:T315P	T	+	1	0	DPP10	116227233	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.686000	0.68211	2.149000	0.67028	0.528000	0.53228	ACT		0.358	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		5	34	0	0	0	0	5	34				
ZRANB3	84083	broad.mit.edu	37	2	136111147	136111147	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:136111147C>G	ENST00000264159.6	-	4	348	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	ZRANB3_ENST00000401392.1_Missense_Mutation_p.E78Q|ZRANB3_ENST00000536680.1_Missense_Mutation_p.E78Q	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	78	DNA annealing helicase activity.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGCCATTCCTCTTTATAGAAG	0.343																																						uc002tum.2		NA																	0				lung(2)	2						c.(232-234)GAG>CAG		zinc finger, RAN-binding domain containing 3							59.0	54.0	56.0					2																	136111147		1811	4071	5882	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136111147C>G	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.232G>C	2.37:g.136111147C>G	ENSP00000264159:p.Glu78Gln					ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Missense_Mutation_p.E78Q|ZRANB3_uc002tun.1_Missense_Mutation_p.E18Q	p.E78Q	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	4	349	-			78			Helicase ATP-binding.		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.232G>C	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627942	0.28978	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.93426	-3.22;-3.22;-3.22	4.72	3.57	0.40892	DEAD-like helicase (2);SNF2-related (1);	0.324362	0.36338	N	0.002656	D	0.84188	0.5417	N	0.21097	0.63	0.31877	N	0.618958	B;B;B	0.24132	0.008;0.098;0.046	B;B;B	0.23574	0.047;0.032;0.041	T	0.76702	-0.2862	10	0.25106	T	0.35	-4.2927	3.4852	0.07617	0.0:0.6092:0.0:0.3908	.	18;78;78	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	Q	78;78;78;18	ENSP00000383979:E78Q;ENSP00000264159:E78Q;ENSP00000441320:E78Q	ENSP00000264159:E78Q	E	-	1	0	ZRANB3	135827617	0.890000	0.30428	1.000000	0.80357	0.991000	0.79684	0.547000	0.23299	2.338000	0.79540	0.650000	0.86243	GAG		0.343	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		3	44	0	0	0	0	3	44				
LRP1B	53353	broad.mit.edu	37	2	141299370	141299370	+	Silent	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:141299370A>T	ENST00000389484.3	-	44	8336	c.7365T>A	c.(7363-7365)gcT>gcA	p.A2455A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2455					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)		CATTGGCAACAGCTATGATTC	0.363										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.(7363-7365)GCT>GCA		low density lipoprotein-related protein 1B							156.0	146.0	150.0					2																	141299370		2203	4299	6502	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141299370A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7365T>A	2.37:g.141299370A>T		TSP Lung(27;0.18)					p.A2455A	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)	44	8337	-		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)	2455			Extracellular (Potential).|LDL-receptor class B 27.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.7365T>A	CCDS2182.1																																																																																				0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	137	0	0	0	0	9	137				
KCNH7	90134	broad.mit.edu	37	2	163228467	163228467	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:163228467G>T	ENST00000332142.5	-	16	3562	c.3463C>A	c.(3463-3465)Cac>Aac	p.H1155N		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1155					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGCCGCAGGTGAAGCTCTAAA	0.428																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	0				ovary(3)|skin(2)	5						c.(3463-3465)CAC>AAC		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						103.0	95.0	98.0					2																	163228467		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163228467G>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.3463C>A	2.37:g.163228467G>T	ENSP00000331727:p.His1155Asn						p.H1155N	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			16	3675	-			1155			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.3463C>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	8.203	0.798623	0.16397	.	.	ENSG00000184611	ENST00000332142	D	0.98474	-4.95	5.43	4.54	0.55810	.	0.216212	0.41294	D	0.000914	D	0.94298	0.8168	N	0.14661	0.345	0.50813	D	0.999899	B	0.17667	0.023	B	0.14023	0.01	D	0.91227	0.5011	10	0.17369	T	0.5	.	15.8216	0.78654	0.0:0.141:0.859:0.0	.	1155	Q9NS40	KCNH7_HUMAN	N	1155	ENSP00000331727:H1155N	ENSP00000331727:H1155N	H	-	1	0	KCNH7	162936713	1.000000	0.71417	0.785000	0.31869	0.947000	0.59692	5.183000	0.65065	1.258000	0.44101	0.563000	0.77884	CAC		0.428	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		8	47	1	0	1.13e-05	4.18e-05	8	47				
SCN1A	6323	broad.mit.edu	37	2	166901572	166901572	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:166901572C>G	ENST00000303395.4	-	10	1642	c.1643G>C	c.(1642-1644)aGg>aCg	p.R548T	SCN1A_ENST00000423058.2_Missense_Mutation_p.R548T|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R548T|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R548T			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	548					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGAGGAGTACCTCTTTTCATA	0.433																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(1642-1644)AGG>ACG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						134.0	128.0	130.0					2																	166901572		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166901572C>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1643G>C	2.37:g.166901572C>G	ENSP00000303540:p.Arg548Thr					SCN1A_uc002udo.3_Missense_Mutation_p.R417T|SCN1A_uc010fpk.2_Missense_Mutation_p.R417T	p.R548T	NM_006920	NP_008851	P35498	SCN1A_HUMAN			10	1661	-			548					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1643G>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215850	0.58452	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	6.17	6.17	0.99709	Domain of unknown function DUF3451 (1);	0.280655	0.36444	N	0.002584	D	0.88735	0.6517	M	0.66939	2.045	0.45822	D	0.998698	B;B;B	0.25390	0.062;0.077;0.125	B;B;B	0.28139	0.051;0.086;0.079	D	0.85156	0.0989	10	0.87932	D	0	.	8.1392	0.31073	0.0:0.8201:0.0:0.1799	.	548;548;548	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	548	ENSP00000407030:R548T;ENSP00000303540:R548T;ENSP00000364554:R548T;ENSP00000386312:R548T	ENSP00000303540:R548T	R	-	2	0	SCN1A	166609818	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.716000	0.37981	2.941000	0.99782	0.655000	0.94253	AGG		0.433	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		44	82	0	0	0	0	44	82				
PLCB4	5332	broad.mit.edu	37	20	9364994	9364994	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:9364994G>A	ENST00000378493.1	+	11	1015	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S	PLCB4_ENST00000378501.2_Missense_Mutation_p.G334S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.G334S|PLCB4_ENST00000334005.3_Missense_Mutation_p.G334S|PLCB4_ENST00000378473.3_Missense_Mutation_p.G334S|PLCB4_ENST00000414679.2_Missense_Mutation_p.G334S			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	334	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTATCTCACTGGCAGACAGTT	0.463																																						uc002wnf.2		NA																	0				skin(11)|ovary(3)|pancreas(1)	15						c.(1000-1002)GGC>AGC		phospholipase C beta 4 isoform b							125.0	113.0	117.0					20																	9364994		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9364994G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1000G>A	20.37:g.9364994G>A	ENSP00000367754:p.Gly334Ser					PLCB4_uc010gbw.1_Missense_Mutation_p.G334S|PLCB4_uc010gbx.2_Missense_Mutation_p.G334S|PLCB4_uc002wne.2_Missense_Mutation_p.G334S|PLCB4_uc002wnh.2_Missense_Mutation_p.G181S	p.G334S	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			13	1136	+			334			PI-PLC X-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1000G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	34	5.376411	0.95945	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36	5.93	5.93	0.95920	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.044607	0.85682	D	0.000000	T	0.81380	0.4810	M	0.94101	3.495	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;D;D;D	0.97110	1.0;0.924;0.998;1.0	D	0.85121	0.0969	10	0.87932	D	0	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	334;181;334;334	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	S	334;334;334;334;334;170	ENSP00000334105:G334S;ENSP00000367734:G334S;ENSP00000278655:G334S;ENSP00000367754:G334S;ENSP00000367762:G334S;ENSP00000390616:G170S	ENSP00000278655:G334S	G	+	1	0	PLCB4	9312994	1.000000	0.71417	0.993000	0.49108	0.774000	0.43823	9.476000	0.97823	2.814000	0.96858	0.563000	0.77884	GGC		0.463	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			35	71	0	0	0	0	35	71				
KIZ-AS1	101929591	broad.mit.edu	37	20	21143094	21143094	+	RNA	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:21143094G>A	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AGAATACTGTGAATCTGAAAA	0.468																																						uc002wsb.2		NA																	0					0						c.(988-990)GAA>AAA		polo-like kinase 1 substrate 1 isoform 1							34.0	34.0	34.0					20																	21143094		1864	4099	5963			55857				spindle organization	centrosome	protein kinase binding	g.chr20:21143094G>A																													20.37:g.21143094G>A						PLK1S1_uc010zsh.1_Missense_Mutation_p.E227K|PLK1S1_uc010zsi.1_Missense_Mutation_p.E197K|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA	p.E330K	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN			5	1121	+			330						Missense_Mutation	SNP	ENST00000591761.1	37	c.988G>A																																																																																					0.468	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			8	20	0	0	0	0	8	20				
NKX2-4	644524	broad.mit.edu	37	20	21377938	21377938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:21377938C>T	ENST00000351817.4	-	1	728	c.100G>A	c.(100-102)Gcg>Acg	p.A34T	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	34					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						ccgggtggcgcgccgTCCATG	0.731																																						uc010gcz.2		NA																	0					0						c.(100-102)GCG>ACG		NK2 homeobox 4							6.0	6.0	6.0					20																	21377938		1762	3919	5681	SO:0001583	missense	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21377938C>T		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.100G>A	20.37:g.21377938C>T	ENSP00000345147:p.Ala34Thr						p.A34T	NM_033176	NP_149416	Q9H2Z4	NKX24_HUMAN			1	110	-			34					Q5VZV8	Missense_Mutation	SNP	ENST00000351817.4	37	c.100G>A	CCDS42855.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225139	0.39300	.	.	ENSG00000125816	ENST00000351817	D	0.91237	-2.81	2.56	2.56	0.30785	.	0.922714	0.08842	U	0.885739	T	0.78272	0.4257	N	0.25647	0.755	0.36122	D	0.845562	P	0.48998	0.918	B	0.33521	0.165	T	0.74816	-0.3536	10	0.13470	T	0.59	.	5.1312	0.14911	0.0:0.8277:0.0:0.1722	.	34	Q9H2Z4	NKX24_HUMAN	T	34	ENSP00000345147:A34T	ENSP00000345147:A34T	A	-	1	0	NKX2-4	21325938	1.000000	0.71417	0.996000	0.52242	0.846000	0.48090	0.374000	0.20501	1.233000	0.43693	0.385000	0.25706	GCG		0.731	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			4	7	0	0	0	0	4	7				
NINL	22981	broad.mit.edu	37	20	25459583	25459583	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:25459583T>C	ENST00000278886.6	-	16	2250	c.2177A>G	c.(2176-2178)cAt>cGt	p.H726R	NINL_ENST00000422516.1_Missense_Mutation_p.H726R	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	726					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTGGCTGTGATGCCGCAGGGC	0.582																																						uc002wux.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2176-2178)CAT>CGT		ninein-like							33.0	38.0	36.0					20																	25459583		2203	4299	6502	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25459583T>C		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2177A>G	20.37:g.25459583T>C	ENSP00000278886:p.His726Arg					NINL_uc010gdn.1_Missense_Mutation_p.H726R|NINL_uc010gdo.1_Missense_Mutation_p.H509R	p.H726R	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			16	2251	-			726					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.2177A>G	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	T	7.198	0.592829	0.13875	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.32988	1.7;1.43	4.33	3.21	0.36854	.	0.412335	0.22372	N	0.060936	T	0.36331	0.0963	L	0.32530	0.975	0.09310	N	1	D;D	0.71674	0.998;0.995	D;P	0.66351	0.943;0.829	T	0.07539	-1.0767	10	0.37606	T	0.19	-1.1161	6.9392	0.24483	0.2041:0.0:0.0:0.7959	.	726;726	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	R	726	ENSP00000278886:H726R;ENSP00000410431:H726R	ENSP00000278886:H726R	H	-	2	0	NINL	25407583	0.123000	0.22298	0.037000	0.18230	0.004000	0.04260	2.991000	0.49409	0.689000	0.31550	-0.333000	0.08304	CAT		0.582	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		33	73	0	0	0	0	33	73				
GSS	2937	broad.mit.edu	37	20	33524591	33524591	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:33524591G>A	ENST00000216951.2	-	8	840	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	GSS_ENST00000451957.2_Silent_p.L137L|GSS_ENST00000541098.1_Silent_p.L120L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	248					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TCTTGGTCCAGAGACCCCTTT	0.473																																						uc002xbg.2		NA																	0				ovary(3)	3						c.(742-744)CTG>TTG		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						153.0	160.0	158.0					20																	33524591		2203	4300	6503	SO:0001819	synonymous_variant	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33524591G>A		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.742C>T	20.37:g.33524591G>A						GSS_uc010zun.1_Silent_p.L120L|GSS_uc010zuo.1_Silent_p.L137L|GSS_uc010zup.1_Silent_p.L179L|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_5'UTR	p.L248L	NM_000178	NP_000169	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		8	822	-			248					B2R697|B6F210|E1P5P9|Q4TTD9	Silent	SNP	ENST00000216951.2	37	c.742C>T	CCDS13245.1																																																																																				0.473	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			43	226	0	0	0	0	43	226				
EEF1A2	1917	broad.mit.edu	37	20	62122079	62122079	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:62122079G>A	ENST00000298049.7	-	5	852	c.782C>T	c.(781-783)aCg>aTg	p.T261M	EEF1A2_ENST00000217182.3_Missense_Mutation_p.T261M			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	261					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CACGGGCACCGTGCCAATGCC	0.647																																						uc002yfd.1		NA																	0					0						c.(781-783)ACG>ATG		eukaryotic translation elongation factor 1 alpha							20.0	22.0	21.0					20																	62122079		2187	4275	6462	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62122079G>A	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.782C>T	20.37:g.62122079G>A	ENSP00000298049:p.Thr261Met					EEF1A2_uc002yfe.1_Missense_Mutation_p.T261M|EEF1A2_uc010gkg.1_Missense_Mutation_p.T261M	p.T261M	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		5	883	-	all_cancers(38;9.45e-12)		261					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.782C>T	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.256861	0.59321	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.68903	-0.36;-0.36	3.82	3.82	0.43975	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.91185	0.7223	H	0.99982	5.21	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.976	D	0.95792	0.8825	10	0.87932	D	0	-32.5043	16.0768	0.80974	0.0:0.0:1.0:0.0	.	237;261	Q59GP5;Q05639	.;EF1A2_HUMAN	M	261	ENSP00000298049:T261M;ENSP00000217182:T261M	ENSP00000217182:T261M	T	-	2	0	EEF1A2	61592523	1.000000	0.71417	0.898000	0.35279	0.343000	0.28985	9.616000	0.98359	1.847000	0.53656	0.556000	0.70494	ACG		0.647	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		18	41	0	0	0	0	18	41				
ZDHHC8	29801	broad.mit.edu	37	22	20127041	20127041	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr22:20127041G>A	ENST00000334554.7	+	3	408	c.267G>A	c.(265-267)ccG>ccA	p.P89P	ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000320602.7_Silent_p.P89P|ZDHHC8_ENST00000405930.3_Silent_p.P89P	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	89					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TCCGGGCTCCGCTGTACAAGA	0.607																																						uc002zrq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(265-267)CCG>CCA		zinc finger, DHHC domain containing 8							79.0	76.0	77.0					22																	20127041		2202	4299	6501	SO:0001819	synonymous_variant	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20127041G>A	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.267G>A	22.37:g.20127041G>A						ZDHHC8_uc002zrr.1_Silent_p.P89P|ZDHHC8_uc010gsa.2_5'UTR	p.P89P	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN			3	373	+	Colorectal(54;0.0993)		89			Cytoplasmic (Potential).		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Silent	SNP	ENST00000334554.7	37	c.267G>A	CCDS13776.1																																																																																				0.607	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		61	44	0	0	0	0	61	44				
PDCD6IP	10015	broad.mit.edu	37	3	33885692	33885692	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr3:33885692A>C	ENST00000307296.3	+	11	1825	c.1448A>C	c.(1447-1449)gAa>gCa	p.E483A	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.E488A			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	483	Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CCATCCAATGAACTGTATAAG	0.343																																						uc003cfx.2		NA																	0				ovary(1)|skin(1)	2						c.(1447-1449)GAA>GCA		programmed cell death 6 interacting protein							71.0	71.0	71.0					3																	33885692		2203	4298	6501	SO:0001583	missense	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33885692A>C	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.1448A>C	3.37:g.33885692A>C	ENSP00000307387:p.Glu483Ala					PDCD6IP_uc003cfy.2_Missense_Mutation_p.E488A|PDCD6IP_uc011axw.1_Missense_Mutation_p.E264A	p.E483A	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN			11	1603	+			483			Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	c.1448A>C	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.302715	0.60195	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.32753	1.44;1.44	5.27	5.27	0.74061	.	0.197812	0.52532	D	0.000079	T	0.27313	0.0670	L	0.42245	1.32	0.51012	D	0.999908	B;B;B	0.14438	0.01;0.001;0.001	B;B;B	0.25506	0.061;0.016;0.041	T	0.07290	-1.0780	10	0.09590	T	0.72	-1.6706	15.205	0.73173	1.0:0.0:0.0:0.0	.	264;488;483	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	A	483;488	ENSP00000307387:E483A;ENSP00000411825:E488A	ENSP00000307387:E483A	E	+	2	0	PDCD6IP	33860696	1.000000	0.71417	0.937000	0.37676	0.988000	0.76386	7.786000	0.85741	2.002000	0.58637	0.455000	0.32223	GAA		0.343	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			4	63	0	0	0	0	4	63				
WDR53	348793	broad.mit.edu	37	3	196281606	196281606	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr3:196281606T>C	ENST00000332629.5	-	4	1120	c.553A>G	c.(553-555)Atg>Gtg	p.M185V	WDR53_ENST00000433160.1_Missense_Mutation_p.M26V|WDR53_ENST00000429115.1_Missense_Mutation_p.M24V	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	185										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GGGCCTTCCATTTCTTCTGTT	0.438																																						uc003fwt.2		NA																	0				breast(1)|skin(1)	2						c.(553-555)ATG>GTG		WD repeat domain 53							119.0	122.0	121.0					3																	196281606		2203	4300	6503	SO:0001583	missense	348793							g.chr3:196281606T>C	BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"""WD repeat domain containing"""	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.553A>G	3.37:g.196281606T>C	ENSP00000328079:p.Met185Val						p.M185V	NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	4	1024	-	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		185					A0MNP1	Missense_Mutation	SNP	ENST00000332629.5	37	c.553A>G	CCDS3318.1	.	.	.	.	.	.	.	.	.	.	T	1.248	-0.619488	0.03663	.	.	ENSG00000185798	ENST00000332629;ENST00000429115;ENST00000433160	T;T;T	0.71341	-0.56;1.66;1.66	5.96	-0.921	0.10472	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.595996	0.19484	N	0.113152	T	0.42017	0.1184	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10245	-1.0638	10	0.21540	T	0.41	0.1535	1.6733	0.02816	0.1242:0.1612:0.3196:0.3951	.	185	Q7Z5U6	WDR53_HUMAN	V	185;24;26	ENSP00000328079:M185V;ENSP00000396668:M24V;ENSP00000410677:M26V	ENSP00000328079:M185V	M	-	1	0	WDR53	197766003	0.011000	0.17503	0.941000	0.38009	0.994000	0.84299	1.277000	0.33167	-0.142000	0.11354	0.533000	0.62120	ATG		0.438	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340689.1	NM_182627		80	288	0	0	0	0	80	288				
CNGA1	1259	broad.mit.edu	37	4	47939078	47939078	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr4:47939078C>T	ENST00000514170.1	-	11	1752	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H	CNGA1_ENST00000402813.3_Missense_Mutation_p.R547H|CNGA1_ENST00000358519.4_Missense_Mutation_p.R478H|CNGA1_ENST00000420489.2_Missense_Mutation_p.R478H|CNGA1_ENST00000544810.1_Missense_Mutation_p.R478H			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	478					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	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)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AGCAAAAATGCGTACCTTTTT	0.378																																						uc003gxt.3		NA																	0				ovary(2)	2						c.(1432-1434)CGC>CAC		cyclic nucleotide gated channel alpha 1 isoform							177.0	167.0	170.0					4																	47939078		1919	4150	6069	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939078C>T	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1433G>A	4.37:g.47939078C>T	ENSP00000426862:p.Arg478His					uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.R547H	p.R478H	NM_000087	NP_000078	P29973	CNGA1_HUMAN			11	1699	-			478			Extracellular (Potential).		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1433G>A	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350139	0.41599	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08	5.22	4.38	0.52667	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.94810	0.8324	M	0.86651	2.83	0.58432	D	0.999997	P;P	0.44260	0.83;0.83	B;B	0.26693	0.072;0.072	D	0.93962	0.7241	10	0.66056	D	0.02	.	13.6822	0.62493	0.0:0.9258:0.0:0.0742	.	478;478	Q4W5E3;P29973	.;CNGA1_HUMAN	H	547;478;478;478;478	ENSP00000384264:R547H;ENSP00000426862:R478H;ENSP00000443401:R478H;ENSP00000351320:R478H;ENSP00000389881:R478H	ENSP00000351320:R478H	R	-	2	0	CNGA1	47633835	1.000000	0.71417	0.776000	0.31678	0.291000	0.27294	7.487000	0.81328	1.203000	0.43233	-0.339000	0.08088	CGC		0.378	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		22	92	0	0	0	0	22	92				
ANKRD17	26057	broad.mit.edu	37	4	73956863	73956863	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr4:73956863T>A	ENST00000358602.4	-	29	6598	c.6482A>T	c.(6481-6483)cAg>cTg	p.Q2161L	ANKRD17_ENST00000509867.2_Missense_Mutation_p.Q2048L|ANKRD17_ENST00000330838.6_Missense_Mutation_p.Q1910L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2161					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATTGGTGTCTGAGGCATAGG	0.532																																						uc003hgp.2		NA																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(6481-6483)CAG>CTG		ankyrin repeat domain protein 17 isoform a							124.0	134.0	131.0					4																	73956863		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73956863T>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6482A>T	4.37:g.73956863T>A	ENSP00000351416:p.Gln2161Leu					ANKRD17_uc003hgo.2_Missense_Mutation_p.Q2048L|ANKRD17_uc003hgq.2_Missense_Mutation_p.Q1910L|ANKRD17_uc003hgr.2_Missense_Mutation_p.Q2160L	p.Q2161L	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		29	6599	-	Breast(15;0.000295)		2161					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.6482A>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.237185	0.22711	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.67865	-0.29;-0.26;-0.26	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000008	T	0.54791	0.1880	N	0.22421	0.69	0.38920	D	0.957712	B;B;B;B	0.16603	0.018;0.004;0.01;0.002	B;B;B;B	0.14023	0.01;0.01;0.005;0.003	T	0.57341	-0.7828	10	0.87932	D	0	.	15.179	0.72938	0.0:0.0:0.0:1.0	.	2160;1910;2161;2048	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	L	2161;1568;1910;2048;545	ENSP00000351416:Q2161L;ENSP00000332265:Q1910L;ENSP00000427151:Q2048L	ENSP00000332265:Q1910L	Q	-	2	0	ANKRD17	74175727	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.734000	0.47368	2.176000	0.68965	0.528000	0.53228	CAG		0.532	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		39	170	0	0	0	0	39	170				
DMP1	1758	broad.mit.edu	37	4	88584472	88584472	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr4:88584472G>C	ENST00000339673.6	+	6	1641	c.1542G>C	c.(1540-1542)taG>taC	p.*514Y	DMP1_ENST00000282479.7_Nonstop_Mutation_p.*498Y|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	0					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		ACGGCTATTAGCATCAGCTGT	0.373																																						uc003hqv.2		NA																	0				pancreas(1)|skin(1)	2						c.(1540-1542)TAG>TAC		dentin matrix acidic phosphoprotein 1 isoform 1							121.0	122.0	121.0					4																	88584472		2203	4300	6503	SO:0001578	stop_lost	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88584472G>C	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1542G>C	4.37:g.88584472G>C	ENSP00000340935:p.*514Tyrext*5					DMP1_uc003hqw.2_Nonstop_Mutation_p.*498Y	p.*514Y	NM_004407	NP_004398	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	1646	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	514					A1L4L3|O43265	Nonstop_Mutation	SNP	ENST00000339673.6	37	c.1542G>C	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	G	8.973	0.973357	0.18736	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	.	.	.	5.9	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5463	0.33424	0.2296:0.0:0.7704:0.0	.	.	.	.	Y	514;498	.	.	X	+	3	2	DMP1	88803496	0.772000	0.28567	0.892000	0.35008	0.464000	0.32679	0.868000	0.27982	0.855000	0.35359	0.655000	0.94253	TAG		0.373	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			32	134	0	0	0	0	32	134				
PDHA2	5161	broad.mit.edu	37	4	96761919	96761919	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr4:96761919C>T	ENST00000295266.4	+	1	681	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	206					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CCGAAGCTTTCAATATGGCAG	0.443																																						uc003htr.3		NA																	0				central_nervous_system(1)	1						c.(616-618)TTC>TTT		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						57.0	62.0	60.0					4																	96761919		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761919C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.618C>T	4.37:g.96761919C>T							p.F206F	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	681	+		Hepatocellular(203;0.114)	206					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.618C>T	CCDS3644.1																																																																																				0.443	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			14	49	0	0	0	0	14	49				
NDNF	79625	broad.mit.edu	37	4	121958183	121958183	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr4:121958183A>T	ENST00000379692.4	-	4	1469	c.943T>A	c.(943-945)Ttt>Att	p.F315I	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	315	Fibronectin type-III 1.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTGACCACAAATACATCAAAG	0.453																																						uc003idq.1		NA																	0					0						c.(943-945)TTT>ATT		hypothetical protein LOC79625 precursor							160.0	138.0	145.0					4																	121958183		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121958183A>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.943T>A	4.37:g.121958183A>T	ENSP00000369014:p.Phe315Ile						p.F315I	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			4	1470	-			315			Fibronectin type-III 1.		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.943T>A	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214439	0.79352	.	.	ENSG00000173376	ENST00000379692	T	0.52526	0.66	5.88	5.88	0.94601	.	0.043265	0.85682	D	0.000000	T	0.68842	0.3045	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72194	-0.4364	10	0.87932	D	0	-24.9644	16.3015	0.82820	1.0:0.0:0.0:0.0	.	315	Q8TB73	NDNF_HUMAN	I	315	ENSP00000369014:F315I	ENSP00000369014:F315I	F	-	1	0	NDNF	122177633	1.000000	0.71417	0.977000	0.42913	0.759000	0.43091	9.332000	0.96446	2.239000	0.73571	0.533000	0.62120	TTT		0.453	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		15	71	0	0	0	0	15	71				
CMYA5	202333	broad.mit.edu	37	5	79027402	79027402	+	Silent	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr5:79027402T>C	ENST00000446378.2	+	2	2845	c.2814T>C	c.(2812-2814)gaT>gaC	p.D938D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	938					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGAAGAAGATCAAGAAGACA	0.413																																						uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(2812-2814)GAT>GAC		cardiomyopathy associated 5							115.0	110.0	112.0					5																	79027402		1876	4116	5992	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79027402T>C	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2814T>C	5.37:g.79027402T>C							p.D938D	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2886	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	938					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.2814T>C	CCDS47238.1																																																																																				0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		48	39	0	0	0	0	48	39				
GPR98	84059	broad.mit.edu	37	5	90041015	90041015	+	Missense_Mutation	SNP	C	C	G	rs549528540		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr5:90041015C>G	ENST00000405460.2	+	51	10798	c.10702C>G	c.(10702-10704)Cta>Gta	p.L3568V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3568	Calx-beta 23. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTAATAGCTCTAGTGGGAGC	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		17409	0.0		0.0	False		,,,				2504	0.001					uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(10702-10704)CTA>GTA		G protein-coupled receptor 98 precursor							184.0	176.0	179.0					5																	90041015		1834	4083	5917	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90041015C>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10702C>G	5.37:g.90041015C>G	ENSP00000384582:p.Leu3568Val					GPR98_uc003kjt.2_Missense_Mutation_p.L1274V|GPR98_uc003kjv.2_Missense_Mutation_p.L1168V	p.L3568V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	51	10798	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3568			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.10702C>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	0.495	-0.873569	0.02570	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27402	1.67	5.48	-0.881	0.10607	.	0.461132	0.24298	N	0.039741	T	0.22244	0.0536	L	0.60455	1.87	0.19300	N	0.999979	B;B	0.14012	0.009;0.003	B;B	0.10450	0.004;0.005	T	0.33803	-0.9854	10	0.12103	T	0.63	.	7.4355	0.27154	0.0:0.4655:0.121:0.4136	.	3568;3568	E7ETI5;Q8WXG9	.;GPR98_HUMAN	V	3568	ENSP00000384582:L3568V	ENSP00000296619:L3568V	L	+	1	2	GPR98	90076771	0.002000	0.14202	0.106000	0.21319	0.111000	0.19643	-0.045000	0.12003	-0.229000	0.09854	-0.143000	0.13931	CTA		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		40	134	0	0	0	0	40	134				
CYFIP2	26999	broad.mit.edu	37	5	156741393	156741393	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr5:156741393G>A	ENST00000521420.1	+	11	1165	c.1074G>A	c.(1072-1074)gaG>gaA	p.E358E	CYFIP2_ENST00000522463.1_Silent_p.E188E|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Silent_p.E309E|CYFIP2_ENST00000347377.6_Silent_p.E384E|CYFIP2_ENST00000435847.2_Silent_p.E58E|CYFIP2_ENST00000318218.6_Silent_p.E384E|CYFIP2_ENST00000377576.3_Silent_p.E384E					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTCAGACGAGGAGTATCGCG	0.567																																						uc003lwq.2		NA																	0					0						c.(1150-1152)GAG>GAA		cytoplasmic FMR1 interacting protein 2							95.0	101.0	99.0					5																	156741393		2062	4198	6260	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156741393G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1074G>A	5.37:g.156741393G>A						CYFIP2_uc011ddn.1_Silent_p.E358E|CYFIP2_uc011ddo.1_Silent_p.E188E|CYFIP2_uc003lwr.2_Silent_p.E384E|CYFIP2_uc003lws.2_Silent_p.E384E|CYFIP2_uc003lwt.2_Silent_p.E262E|CYFIP2_uc011ddp.1_Silent_p.E118E	p.E384E	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		14	1290	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	384						Silent	SNP	ENST00000521420.1	37	c.1152G>A																																																																																					0.567	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		22	35	0	0	0	0	22	35				
FGFR4	2264	broad.mit.edu	37	5	176519733	176519733	+	Silent	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr5:176519733A>G	ENST00000292408.4	+	8	1250	c.1005A>G	c.(1003-1005)gcA>gcG	p.A335A	FGFR4_ENST00000292410.3_Silent_p.A335A|FGFR4_ENST00000393648.2_Silent_p.A335A|FGFR4_ENST00000502906.1_Silent_p.A335A|FGFR4_ENST00000393637.1_Silent_p.A335A	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	335	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CCTGCCTCGCAGGCAATTCCA	0.637										TSP Lung(9;0.080)																												uc003mfl.2		NA																	0				lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16						c.(1003-1005)GCA>GCG		fibroblast growth factor receptor 4 isoform 1	Palifermin(DB00039)						69.0	64.0	65.0					5																	176519733		2203	4300	6503	SO:0001819	synonymous_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176519733A>G	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1005A>G	5.37:g.176519733A>G		TSP Lung(9;0.080)				FGFR4_uc003mfm.2_Silent_p.A335A|FGFR4_uc011dfu.1_Silent_p.A335A|FGFR4_uc011dfw.1_Silent_p.A335A|FGFR4_uc003mfo.2_Silent_p.A335A	p.A335A	NM_002011	NP_002002	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1172	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	335			Extracellular (Potential).|Ig-like C2-type 3.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	ENST00000292408.4	37	c.1005A>G	CCDS4410.1																																																																																				0.637	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			23	31	0	0	0	0	23	31				
PRPF4B	8899	broad.mit.edu	37	6	4037761	4037761	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:4037761C>T	ENST00000337659.6	+	3	1469	c.1369C>T	c.(1369-1371)Cgt>Tgt	p.R457C	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R443C	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	457	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCCACTCAGACGTAGCAGGTC	0.448																																						uc003mvv.2		NA																	0				breast(5)	5						c.(1369-1371)CGT>TGT		serine/threonine-protein kinase PRP4K							104.0	87.0	93.0					6																	4037761		2203	4300	6503	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4037761C>T	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1369C>T	6.37:g.4037761C>T	ENSP00000337194:p.Arg457Cys					PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA	p.R457C	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			3	1460	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	457			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.1369C>T	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330778	0.60853	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.71579	-0.56;-0.58	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000003	T	0.55321	0.1913	L	0.58810	1.83	0.80722	D	1	B	0.19331	0.035	B	0.06405	0.002	T	0.62334	-0.6876	10	0.72032	D	0.01	.	13.4607	0.61225	0.1566:0.8433:0.0:0.0	.	457	Q13523	PRP4B_HUMAN	C	457;443	ENSP00000337194:R457C;ENSP00000439331:R443C	ENSP00000337194:R457C	R	+	1	0	PRPF4B	3982760	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.750000	0.55157	2.342000	0.79632	0.561000	0.74099	CGT		0.448	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			20	41	0	0	0	0	20	41				
HIST1H4E	8367	broad.mit.edu	37	6	26205025	26205025	+	Silent	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:26205025C>A	ENST00000360441.4	+	1	168	c.153C>A	c.(151-153)atC>atA	p.I51I		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	51					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CTGGTCTCATCTACGAGGAGA	0.562																																						uc003ngy.2		NA																	0				ovary(1)	1						c.(151-153)ATC>ATA		histone cluster 1, H4e							103.0	99.0	100.0					6																	26205025		2203	4300	6503	SO:0001819	synonymous_variant	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26205025C>A	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.153C>A	6.37:g.26205025C>A							p.I51I	NM_003545	NP_003536	P62805	H4_HUMAN			1	153	+		all_hematologic(11;0.196)	51					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000360441.4	37	c.153C>A	CCDS4593.1																																																																																				0.562	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		38	68	1	0	7e-10	2.72e-09	38	68				
HIST1H1B	3009	broad.mit.edu	37	6	27834842	27834842	+	Missense_Mutation	SNP	G	G	C	rs545007006	byFrequency	TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:27834842G>C	ENST00000331442.3	-	1	517	c.466C>G	c.(466-468)Ccg>Gcg	p.P156A		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	156					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCCTTCTTCGGAGTCTTCTTC	0.602																																						uc003njx.2		NA																	0				large_intestine(2)|lung(1)	3						c.(466-468)CCG>GCG		histone cluster 1, H1b							89.0	103.0	98.0					6																	27834842		2203	4299	6502	SO:0001583	missense	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834842G>C	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.466C>G	6.37:g.27834842G>C	ENSP00000330074:p.Pro156Ala						p.P156A	NM_005322	NP_005313	P16401	H15_HUMAN			1	518	-			156					Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	c.466C>G	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076208	0.55646	.	.	ENSG00000184357	ENST00000331442	T	0.21932	1.98	5.19	5.19	0.71726	.	0.060755	0.64402	D	0.000003	T	0.12774	0.0310	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.02431	-1.1160	10	0.05351	T	0.99	-16.0625	18.087	0.89461	0.0:0.0:1.0:0.0	.	156	P16401	H15_HUMAN	A	156	ENSP00000330074:P156A	ENSP00000330074:P156A	P	-	1	0	HIST1H1B	27942821	1.000000	0.71417	0.499000	0.27577	0.804000	0.45430	7.573000	0.82421	2.600000	0.87896	0.655000	0.94253	CCG		0.602	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		5	231	0	0	0	0	5	231				
ZBTB22	9278	broad.mit.edu	37	6	33283873	33283873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:33283873G>A	ENST00000431845.2	-	2	972	c.821C>T	c.(820-822)gCa>gTa	p.A274V	ZBTB22_ENST00000418724.1_Missense_Mutation_p.A274V|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGGAACCACTGCCCCCCTCCC	0.607																																						uc003oeb.2		NA																	0				ovary(1)	1						c.(820-822)GCA>GTA		zinc finger and BTB domain containing 22							63.0	53.0	56.0					6																	33283873		2203	4299	6502	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283873G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.821C>T	6.37:g.33283873G>A	ENSP00000407545:p.Ala274Val					TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.A274V	p.A274V	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	973	-			274					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.821C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	4.787	0.146385	0.09134	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.05786	3.39;3.39	3.99	1.99	0.26369	.	0.848461	0.09610	N	0.779079	T	0.01029	0.0034	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47959	-0.9076	10	0.22706	T	0.39	.	7.1569	0.25643	0.2512:0.0:0.7488:0.0	.	274	O15209	ZBT22_HUMAN	V	274	ENSP00000404403:A274V;ENSP00000407545:A274V	ENSP00000404403:A274V	A	-	2	0	ZBTB22	33391851	0.000000	0.05858	0.029000	0.17559	0.777000	0.43975	0.780000	0.26760	0.895000	0.36342	0.297000	0.19635	GCA		0.607	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			12	45	0	0	0	0	12	45				
BYSL	705	broad.mit.edu	37	6	41889501	41889501	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:41889501G>C	ENST00000230340.4	+	1	576	c.201G>C	c.(199-201)gaG>gaC	p.E67D	MED20_ENST00000409060.1_5'Flank|MED20_ENST00000409312.1_5'Flank|MED20_ENST00000467535.1_5'Flank|MED20_ENST00000265350.4_5'Flank	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	67					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)			AGCAACAGGAGGAACTCGAGG	0.677											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003orl.2		NA																	0					0						c.(199-201)GAG>GAC		bystin							17.0	20.0	19.0					6																	41889501		2201	4296	6497	SO:0001583	missense	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41889501G>C	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.201G>C	6.37:g.41889501G>C	ENSP00000230340:p.Glu67Asp		OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904	MED20_uc003orj.2_5'Flank|MED20_uc003ork.2_5'Flank|MED20_uc011duh.1_5'Flank|MED20_uc011dui.1_5'Flank|MED20_uc011duj.1_5'Flank	p.E67D	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)		1	537	+	Colorectal(47;0.121)		67					Q6P5W4|Q86W44|Q96IP8	Missense_Mutation	SNP	ENST00000230340.4	37	c.201G>C	CCDS34450.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888098	0.72524	.	.	ENSG00000112578	ENST00000230340	T	0.23950	1.88	5.11	2.34	0.29019	.	0.162319	0.53938	D	0.000044	T	0.07548	0.0190	L	0.41415	1.275	0.80722	D	1	B	0.15141	0.012	B	0.12156	0.007	T	0.11518	-1.0584	10	0.14252	T	0.57	-5.0	10.3577	0.43974	0.2193:0.0:0.7807:0.0	.	67	Q13895	BYST_HUMAN	D	67	ENSP00000230340:E67D	ENSP00000230340:E67D	E	+	3	2	BYSL	41997479	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.864000	0.48404	0.745000	0.32763	0.655000	0.94253	GAG		0.677	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			15	26	0	0	0	0	15	26				
PRIM2	5558	broad.mit.edu	37	6	57512691	57512691	+	3'UTR	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:57512691G>A	ENST00000389488.2	+	0	1606				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.E507*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTACTTTAGTGAAGATTCTTA	0.393																																						uc003pdx.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1519-1521)GAA>AAA		DNA primase polypeptide 2							312.0	305.0	307.0					6																	57512691		1930	4140	6070	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512691G>A		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1603G>A	6.37:g.57512691G>A							p.E507K	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1606	+			507					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1519G>A																																																																																					0.393	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		16	473	0	0	0	0	16	473				
DOPEY1	23033	broad.mit.edu	37	6	83849755	83849755	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:83849755G>A	ENST00000349129.2	+	22	5417	c.5157G>A	c.(5155-5157)atG>atA	p.M1719I	DOPEY1_ENST00000237163.5_Missense_Mutation_p.M1700I|DOPEY1_ENST00000369739.3_Missense_Mutation_p.M1710I|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1719					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CACCAGATATGATTCTTACTC	0.338																																						uc003pjs.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(5155-5157)ATG>ATA		dopey family member 1							140.0	130.0	133.0					6																	83849755		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83849755G>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5157G>A	6.37:g.83849755G>A	ENSP00000195654:p.Met1719Ile					DOPEY1_uc011dyy.1_Missense_Mutation_p.M1710I|DOPEY1_uc010kbl.1_Missense_Mutation_p.M1710I|DOPEY1_uc003pjt.2_RNA	p.M1719I	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	22	5417	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1719					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.5157G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860506	0.51482	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.21734	2.0;1.99	5.52	5.52	0.82312	.	0.127626	0.64402	D	0.000001	T	0.09992	0.0245	N	0.22421	0.69	0.80722	D	1	B;B;B	0.14805	0.011;0.009;0.009	B;B;B	0.10450	0.005;0.002;0.002	T	0.05566	-1.0877	10	0.48119	T	0.1	.	19.8045	0.96525	0.0:0.0:1.0:0.0	.	1610;1710;1719	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	I	1719;1700;1700	ENSP00000195654:M1719I;ENSP00000237163:M1700I	ENSP00000237163:M1700I	M	+	3	0	DOPEY1	83906474	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.073000	0.50057	2.750000	0.94351	0.484000	0.47621	ATG		0.338	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		9	41	0	0	0	0	9	41				
PGM3	5238	broad.mit.edu	37	6	83896760	83896760	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:83896760C>T	ENST00000283977.4	-	3	307	c.181G>A	c.(181-183)Gat>Aat	p.D61N	PGM3_ENST00000512866.1_Missense_Mutation_p.D142N|PGM3_ENST00000506587.1_Missense_Mutation_p.D170N|PGM3_ENST00000513973.1_Missense_Mutation_p.D142N					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GTCACACCATCTATTACAGAT	0.353																																						uc003pjv.2		NA																	0					0						c.(424-426)GAT>AAT		phosphoglucomutase 3							75.0	70.0	72.0					6																	83896760		2203	4300	6503	SO:0001583	missense	5238				dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	g.chr6:83896760C>T	BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"""acetylglucosamine phosphomutase"""	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.181G>A	6.37:g.83896760C>T	ENSP00000283977:p.Asp61Asn					PGM3_uc003pjw.2_Missense_Mutation_p.D61N|PGM3_uc011dyz.1_Missense_Mutation_p.D170N	p.D142N	NM_015599	NP_056414	O95394	AGM1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0478)	4	464	-		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)	142						Missense_Mutation	SNP	ENST00000283977.4	37	c.424G>A		.	.	.	.	.	.	.	.	.	.	C	15.97	2.988686	0.53934	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000283977;ENST00000506587;ENST00000510258;ENST00000507554	T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	4.97	4.08	0.47627	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.143545	0.64402	D	0.000010	T	0.64681	0.2620	L	0.52905	1.665	0.58432	D	0.999994	D;P;D	0.76494	0.999;0.57;0.999	D;B;D	0.76071	0.987;0.248;0.978	T	0.63084	-0.6716	10	0.25751	T	0.34	-45.3459	15.0843	0.72138	0.0:0.8575:0.1425:0.0	.	170;170;142	E9PF86;B4DX94;O95394	.;.;AGM1_HUMAN	N	142;142;61;170;61;142	ENSP00000424874:D142N;ENSP00000421565:D142N;ENSP00000283977:D61N;ENSP00000425809:D170N;ENSP00000427420:D61N;ENSP00000425558:D142N	ENSP00000283977:D61N	D	-	1	0	PGM3	83953479	1.000000	0.71417	0.879000	0.34478	0.187000	0.23431	4.456000	0.60081	1.044000	0.40200	0.655000	0.94253	GAT		0.353	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	NM_015599		20	61	0	0	0	0	20	61				
RRAGD	58528	broad.mit.edu	37	6	90097155	90097155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:90097155G>T	ENST00000369415.4	-	2	579	c.303C>A	c.(301-303)tgC>tgA	p.C101*	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Intron	NM_021244.4	NP_067067.1			Ras-related GTP binding D									p.C101C(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CATCTTCCCGGCATATCTTAT	0.428																																						uc003pnd.3		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|central_nervous_system(1)	3						c.(301-303)TGC>TGA		Ras-related GTP binding D							158.0	174.0	169.0					6																	90097155		2203	4300	6503	SO:0001587	stop_gained	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90097155G>T	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.303C>A	6.37:g.90097155G>T	ENSP00000358423:p.Cys101*					RRAGD_uc010kcc.2_Intron	p.C101*	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	2	586	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	101						Nonsense_Mutation	SNP	ENST00000369415.4	37	c.303C>A	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	G	39	7.446837	0.98289	.	.	ENSG00000025039	ENST00000369415	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-11.1925	19.8632	0.96793	0.0:0.0:1.0:0.0	.	.	.	.	X	101	.	ENSP00000358423:C101X	C	-	3	2	RRAGD	90153874	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.661000	0.83786	2.699000	0.92147	0.655000	0.94253	TGC		0.428	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		98	190	1	0	5.01e-43	2.03e-42	98	190				
WASF1	8936	broad.mit.edu	37	6	110421867	110421867	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:110421867T>C	ENST00000392589.1	-	11	2374	c.1538A>G	c.(1537-1539)aAa>aGa	p.K513R	WASF1_ENST00000359451.2_Missense_Mutation_p.K513R|WASF1_ENST00000392586.1_Missense_Mutation_p.K513R|WASF1_ENST00000392587.2_Missense_Mutation_p.K513R|WASF1_ENST00000392588.1_Missense_Mutation_p.K513R	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	513	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CTCTTCTACTTTGCGTAGCTG	0.363																																						uc003ptv.1		NA																	0					0						c.(1537-1539)AAA>AGA		Wiskott-Aldrich syndrome protein family member							132.0	119.0	124.0					6																	110421867		2203	4300	6503	SO:0001583	missense	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110421867T>C	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1538A>G	6.37:g.110421867T>C	ENSP00000376368:p.Lys513Arg					WASF1_uc003ptw.1_Missense_Mutation_p.K513R|WASF1_uc003ptx.1_Missense_Mutation_p.K513R|WASF1_uc003pty.1_Missense_Mutation_p.K513R	p.K513R	NM_003931	NP_003922	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	11	2375	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	513			WH2.		E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.1538A>G	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941120	0.73557	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.6	5.6	0.85130	Actin-binding WH2 (3);	0.086868	0.85682	D	0.000000	T	0.81531	0.4842	M	0.76002	2.32	0.80722	D	1	D	0.63046	0.992	P	0.62885	0.908	D	0.84040	0.0364	10	0.62326	D	0.03	.	15.7725	0.78180	0.0:0.0:0.0:1.0	.	513	Q92558	WASF1_HUMAN	R	513	ENSP00000376365:K513R;ENSP00000376366:K513R;ENSP00000376368:K513R;ENSP00000376367:K513R;ENSP00000352425:K513R	ENSP00000352425:K513R	K	-	2	0	WASF1	110528560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.118000	0.64928	0.533000	0.62120	AAA		0.363	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		14	27	0	0	0	0	14	27				
ROS1	6098	broad.mit.edu	37	6	117724426	117724426	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:117724426C>T	ENST00000368508.3	-	6	651	c.453G>A	c.(451-453)ccG>ccA	p.P151P	ROS1_ENST00000368507.3_Silent_p.P160P|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	151	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCACATAGGACGGTCTGGACA	0.473			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(451-453)CCG>CCA		proto-oncogene c-ros-1 protein precursor							69.0	64.0	66.0					6																	117724426		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117724426C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.453G>A	6.37:g.117724426C>T						ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.P151P	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	6	652	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	151			Fibronectin type-III 1.|Extracellular (Potential).		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.453G>A	CCDS5116.1																																																																																				0.473	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			11	26	0	0	0	0	11	26				
PTPRK	5796	broad.mit.edu	37	6	128404886	128404886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:128404886G>C	ENST00000368215.3	-	9	1548	c.1549C>G	c.(1549-1551)Cca>Gca	p.P517A	RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000532331.1_Missense_Mutation_p.P517A|PTPRK_ENST00000368213.5_Missense_Mutation_p.P517A|PTPRK_ENST00000368226.4_Missense_Mutation_p.P517A|PTPRK_ENST00000368210.3_Missense_Mutation_p.P517A|PTPRK_ENST00000368207.3_Missense_Mutation_p.P517A|PTPRK_ENST00000368227.3_Missense_Mutation_p.P517A|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	517	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P517S(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATTCCATTTGGATCCAAAGGT	0.368																																						uc003qbk.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(1549-1551)CCA>GCA		protein tyrosine phosphatase, receptor type, K							111.0	108.0	109.0					6																	128404886		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128404886G>C	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1549C>G	6.37:g.128404886G>C	ENSP00000357198:p.Pro517Ala					PTPRK_uc003qbj.2_Missense_Mutation_p.P517A|PTPRK_uc010kfc.2_Missense_Mutation_p.P517A|PTPRK_uc011ebu.1_Missense_Mutation_p.P517A|PTPRK_uc003qbl.1_Missense_Mutation_p.P387A|PTPRK_uc011ebv.1_Missense_Mutation_p.P517A	p.P517A	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	9	1916	-			517			Extracellular (Potential).|Fibronectin type-III 3.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.1549C>G		.	.	.	.	.	.	.	.	.	.	G	29.0	4.964859	0.92791	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.053759	0.85682	D	0.000000	T	0.60779	0.2295	L	0.43757	1.38	0.80722	D	1	P;D;D;P;P;P	0.89917	0.762;1.0;1.0;0.839;0.643;0.59	P;D;D;P;B;B	0.97110	0.482;1.0;1.0;0.904;0.396;0.275	T	0.51044	-0.8755	10	0.31617	T	0.26	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	517;517;517;374;517;517	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	A	517;517;517;517;517;517;517;374	ENSP00000357209:P517A;ENSP00000357210:P517A;ENSP00000432973:P517A;ENSP00000357196:P517A;ENSP00000357193:P517A;ENSP00000357198:P517A;ENSP00000357190:P517A	ENSP00000357190:P517A	P	-	1	0	PTPRK	128446579	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	5.499000	0.66937	2.850000	0.98022	0.650000	0.86243	CCA		0.368	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			23	99	0	0	0	0	23	99				
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478																																						uc003qii.2		NA																	0				lung(1)|breast(1)	2						c.(421-423)AAG>AGG		RALBP1 associated Eps domain containing 1							196.0	180.0	186.0					6																	139266690		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266690T>C		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.422A>G	6.37:g.139266690T>C	ENSP00000392065:p.Lys141Arg					REPS1_uc003qig.3_Missense_Mutation_p.K141R|REPS1_uc011edr.1_Missense_Mutation_p.K141R|REPS1_uc003qij.2_Missense_Mutation_p.K141R|REPS1_uc003qik.2_5'UTR	p.K141R	NM_031922	NP_114128	Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	3	1001	-			141					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.422A>G		.	.	.	.	.	.	.	.	.	.	T	19.61	3.859918	0.71834	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.33216	1.43;1.43;1.43;1.42;1.42;1.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.40543	1.245	0.47441	D	0.999424	D;P;D;P	0.67145	0.996;0.59;0.995;0.455	P;B;P;B	0.60609	0.877;0.081;0.776;0.055	T	0.02909	-1.1095	10	0.25751	T	0.34	-11.9965	14.408	0.67096	0.0:0.0:0.0:1.0	.	141;141;141;141	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	R	141;141;127;141;141;141;89	ENSP00000392065:K141R;ENSP00000356635:K141R;ENSP00000434251:K127R;ENSP00000386699:K141R;ENSP00000258062:K141R;ENSP00000397941:K141R	ENSP00000258062:K141R	K	-	2	0	REPS1	139308383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.421000	0.73353	2.145000	0.66743	0.454000	0.30748	AAG		0.478	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			3	138	0	0	0	0	3	138				
THSD7A	221981	broad.mit.edu	37	7	11675953	11675953	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:11675953T>A	ENST00000423059.4	-	2	1077	c.826A>T	c.(826-828)Aga>Tga	p.R276*	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	276					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCCCGCGTCTCCTTGCTTGT	0.537										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(826-828)AGA>TGA		thrombospondin, type I, domain containing 7A							127.0	121.0	123.0					7																	11675953		1951	4137	6088	SO:0001587	stop_gained	221981					integral to membrane		g.chr7:11675953T>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.826A>T	7.37:g.11675953T>A	ENSP00000406482:p.Arg276*	HNSCC(18;0.044)					p.R276*	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	1078	-			276			Extracellular (Potential).|Potential.			Nonsense_Mutation	SNP	ENST00000423059.4	37	c.826A>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.516244	0.85495	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.62	3.09	0.35607	.	0.350354	0.33916	N	0.004423	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9126	0.58189	0.0:0.0:0.3185:0.6815	.	.	.	.	X	276	.	ENSP00000262042:R276X	R	-	1	2	THSD7A	11642478	0.329000	0.24696	0.874000	0.34290	0.175000	0.22909	1.518000	0.35877	0.391000	0.25143	0.477000	0.44152	AGA		0.537	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		32	95	0	0	0	0	32	95				
STK31	56164	broad.mit.edu	37	7	23825129	23825129	+	Silent	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:23825129A>G	ENST00000355870.3	+	18	2300	c.2181A>G	c.(2179-2181)gaA>gaG	p.E727E	STK31_ENST00000354639.3_Silent_p.E704E|STK31_ENST00000433467.2_Silent_p.E727E|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.E704E	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	727	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGAGCTTGGAACGAGATCTTC	0.403																																						uc003sws.3		NA																	0				skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(2179-2181)GAA>GAG		serine/threonine kinase 31 isoform a							198.0	188.0	191.0					7																	23825129		2203	4300	6503	SO:0001819	synonymous_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23825129A>G	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2181A>G	7.37:g.23825129A>G						STK31_uc003swt.3_Silent_p.E704E|STK31_uc011jze.1_Silent_p.E727E|STK31_uc010kuq.2_Silent_p.E704E|STK31_uc003swv.1_5'Flank	p.E727E	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			18	2248	+			727			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	c.2181A>G	CCDS5386.1																																																																																				0.403	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		35	90	0	0	0	0	35	90				
NPC1L1	29881	broad.mit.edu	37	7	44556434	44556434	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:44556434G>A	ENST00000289547.4	-	17	3523	c.3468C>T	c.(3466-3468)ctC>ctT	p.L1156L	NPC1L1_ENST00000381160.3_Silent_p.L1129L|NPC1L1_ENST00000546276.1_Silent_p.L1083L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1156					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGCCCAGCAGGAGGCAGGAGA	0.592																																						uc003tlb.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3466-3468)CTC>CTT		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						81.0	70.0	74.0					7																	44556434		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44556434G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3468C>T	7.37:g.44556434G>A						NPC1L1_uc003tlc.2_Silent_p.L1129L|NPC1L1_uc011kbw.1_Silent_p.L1083L|NPC1L1_uc003tla.2_Intron	p.L1156L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			17	3524	-			1156			Helical; Name=10; (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.3468C>T	CCDS5491.1																																																																																				0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		14	42	0	0	0	0	14	42				
EGFR	1956	broad.mit.edu	37	7	55210124	55210124	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:55210124C>G	ENST00000275493.2	+	2	411	c.234C>G	c.(232-234)ttC>ttG	p.F78L	EGFR_ENST00000344576.2_Missense_Mutation_p.F78L|EGFR_ENST00000420316.2_Missense_Mutation_p.F78L|EGFR_ENST00000454757.2_Missense_Mutation_p.F25L|EGFR_ENST00000442591.1_Missense_Mutation_p.F78L|EGFR_ENST00000342916.3_Missense_Mutation_p.F78L|EGFR_ENST00000455089.1_Missense_Mutation_p.F78L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	78			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ATCTTTCCTTCTTAAAGGTTG	0.378		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(232-234)TTC>TTG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						122.0	121.0	122.0					7																	55210124		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55210124C>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.234C>G	7.37:g.55210124C>G	ENSP00000275493:p.Phe78Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.F78L|EGFR_uc003tqi.2_Missense_Mutation_p.F78L|EGFR_uc003tqj.2_Missense_Mutation_p.F78L|EGFR_uc010kzg.1_Missense_Mutation_p.F78L|EGFR_uc011kco.1_Missense_Mutation_p.F25L	p.F78L	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	480	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		78			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.234C>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280932	0.80692	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	6.05	5.17	0.71159	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.89897	0.6848	M	0.83852	2.665	0.80722	D	1	D;D;D;D;D	0.89917	0.965;0.987;1.0;1.0;1.0	P;P;D;D;D	0.97110	0.819;0.839;0.999;1.0;0.979	D	0.91227	0.5011	10	0.72032	D	0.01	.	14.1172	0.65161	0.0:0.9277:0.0:0.0723	.	78;78;78;78;78	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	L	78;78;78;78;78;78;25;25	ENSP00000415559:F78L;ENSP00000342376:F78L;ENSP00000345973:F78L;ENSP00000413843:F78L;ENSP00000275493:F78L;ENSP00000410031:F78L;ENSP00000413354:F25L;ENSP00000395243:F25L	ENSP00000275493:F78L	F	+	3	2	EGFR	55177618	1.000000	0.71417	0.982000	0.44146	0.628000	0.37860	4.760000	0.62235	1.579000	0.49836	0.650000	0.86243	TTC		0.378	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		11	857	0	0	0	0	11	857				
ZNF479	90827	broad.mit.edu	37	7	57188238	57188238	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:57188238C>G	ENST00000331162.4	-	5	1154	c.884G>C	c.(883-885)aGa>aCa	p.R295T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R295I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTGTAGGGTCTCTCTCCAGT	0.473																																						uc010kzo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(883-885)AGA>ACA		zinc finger protein 479							27.0	28.0	28.0					7																	57188238		2050	4201	6251	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188238C>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.884G>C	7.37:g.57188238C>G	ENSP00000333776:p.Arg295Thr						p.R295T	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1155	-			295						Missense_Mutation	SNP	ENST00000331162.4	37	c.884G>C	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	8.864	0.947572	0.18356	.	.	ENSG00000185177	ENST00000331162	T	0.17854	2.25	1.01	-1.22	0.09494	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16896	0.0406	M	0.74881	2.28	0.22511	N	0.999034	P	0.36354	0.549	B	0.34038	0.174	T	0.16070	-1.0415	9	0.87932	D	0	.	4.329	0.11053	0.0:0.2901:0.0:0.7099	.	295	Q96JC4	ZN479_HUMAN	T	295	ENSP00000333776:R295T	ENSP00000333776:R295T	R	-	2	0	ZNF479	57192180	0.002000	0.14202	0.106000	0.21319	0.099000	0.18886	-0.715000	0.04997	-0.396000	0.07703	-0.391000	0.06502	AGA		0.473	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		6	70	0	0	0	0	6	70				
POM121	9883	broad.mit.edu	37	7	72413634	72413634	+	Silent	SNP	G	G	A	rs139238552		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:72413634G>A	ENST00000434423.2	+	11	3102	c.3102G>A	c.(3100-3102)acG>acA	p.T1034T	POM121_ENST00000446813.1_Silent_p.T769T|POM121_ENST00000257622.4_Silent_p.T769T|POM121_ENST00000395270.1_Silent_p.T769T|POM121_ENST00000358357.3_Silent_p.T769T			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1034	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCGGTGCCACGCACTCGGCGT	0.652													.|||	1	0.000199681	0.0	0.0014	5008	,	,		22004	0.0		0.0	False		,,,				2504	0.0					uc003twk.2		NA																	0					0						c.(3100-3102)ACG>ACA		nuclear pore membrane protein 121		G		2,4404	4.2+/-10.8	0,2,2201	80.0	76.0	77.0		2307	0.0	0.0	7	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	POM121	NM_172020.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		769/985	72413634	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413634G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3102G>A	7.37:g.72413634G>A						POM121_uc003twj.2_Silent_p.T769T|POM121_uc010lam.1_Silent_p.T769T	p.T1034T	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			11	3102	+		Lung NSC(55;0.163)	1034			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.3102G>A																																																																																					0.652	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			18	154	0	0	0	0	18	154				
STEAP4	79689	broad.mit.edu	37	7	87913172	87913172	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:87913172G>C	ENST00000380079.4	-	2	514	c.413C>G	c.(412-414)tCa>tGa	p.S138*	STEAP4_ENST00000414498.1_Nonsense_Mutation_p.S138*|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Nonsense_Mutation_p.S138*|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	138					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AGCCCAGGCTGAGATGGTGTT	0.418																																						uc003ujs.2		NA																	0					0						c.(412-414)TCA>TGA		tumor necrosis factor, alpha-induced protein 9							126.0	115.0	118.0					7																	87913172		1889	4122	6011	SO:0001587	stop_gained	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87913172G>C	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.413C>G	7.37:g.87913172G>C	ENSP00000369419:p.Ser138*					STEAP4_uc010lek.2_Nonsense_Mutation_p.S138*|STEAP4_uc003ujt.2_Nonsense_Mutation_p.S138*	p.S138*	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			2	518	-	Esophageal squamous(14;0.00802)		138					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Nonsense_Mutation	SNP	ENST00000380079.4	37	c.413C>G	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	G	36	5.851286	0.97023	.	.	ENSG00000127954	ENST00000380079;ENST00000301959;ENST00000414498	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.9046	20.3011	0.98612	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	ENSP00000305545:S138X	S	-	2	0	STEAP4	87751108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.804000	0.96469	0.650000	0.86243	TCA		0.418	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		404	101	0	0	0	0	404	101				
PIK3CG	5294	broad.mit.edu	37	7	106513012	106513012	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:106513012G>A	ENST00000359195.3	+	3	2336	c.2026G>A	c.(2026-2028)Gcc>Acc	p.A676T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A676T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A676T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	676	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATGATAGCGCCCTTGCCAG	0.393																																						uc003vdv.3		NA																	0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(2026-2028)GCC>ACC		phosphoinositide-3-kinase, catalytic, gamma							206.0	196.0	200.0					7																	106513012		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513012G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2026G>A	7.37:g.106513012G>A	ENSP00000352121:p.Ala676Thr					PIK3CG_uc003vdu.2_Missense_Mutation_p.A676T|PIK3CG_uc003vdw.2_Missense_Mutation_p.A676T	p.A676T	NM_002649	NP_002640	P48736	PK3CG_HUMAN			3	2111	+			676					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2026G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945387	0.73672	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.64438	-0.1;-0.1;-0.1	5.62	5.62	0.85841	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.093109	0.64402	D	0.000001	T	0.64659	0.2618	M	0.66297	2.02	0.58432	D	0.999999	P	0.46656	0.882	B	0.43386	0.418	T	0.61068	-0.7137	10	0.16896	T	0.51	-25.3687	20.024	0.97514	0.0:0.0:1.0:0.0	.	676	P48736	PK3CG_HUMAN	T	676	ENSP00000392258:A676T;ENSP00000419260:A676T;ENSP00000352121:A676T	ENSP00000352121:A676T	A	+	1	0	PIK3CG	106300248	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.229000	0.72294	2.809000	0.96659	0.655000	0.94253	GCC		0.393	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			78	116	0	0	0	0	78	116				
DOCK5	80005	broad.mit.edu	37	8	25154152	25154152	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:25154152C>T	ENST00000276440.7	+	7	638	c.594C>T	c.(592-594)atC>atT	p.I198I	DOCK5_ENST00000481100.1_Silent_p.I198I	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	198					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGAAAAGATCCAAGAAGAGA	0.448																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2		NA																	0				ovary(3)	3						c.(592-594)ATC>ATT		dedicator of cytokinesis 5							68.0	65.0	66.0					8																	25154152		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25154152C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.594C>T	8.37:g.25154152C>T						DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_5'UTR|DOCK5_uc003xef.2_Silent_p.I198I	p.I198I	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	7	731	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	198					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.594C>T	CCDS6047.1																																																																																				0.448	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		8	14	0	0	0	0	8	14				
CDCA2	157313	broad.mit.edu	37	8	25365207	25365207	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:25365207C>G	ENST00000330560.3	+	15	3502	c.3025C>G	c.(3025-3027)Ctg>Gtg	p.L1009V	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.L994V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	1009					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AGAGAGCTCTCTGACTGCCTT	0.433																																						uc003xep.1		NA																	0					0						c.(3025-3027)CTG>GTG		cell division cycle associated 2							80.0	86.0	84.0					8																	25365207		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25365207C>G	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.3025C>G	8.37:g.25365207C>G	ENSP00000328228:p.Leu1009Val					PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.L994V|CDCA2_uc003xer.1_Missense_Mutation_p.L672V	p.L1009V	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	3504	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	1009					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.3025C>G	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826119	0.32237	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.34472	1.36;1.36	5.86	3.02	0.34903	.	1.339880	0.05053	N	0.478556	T	0.31918	0.0812	L	0.43152	1.355	0.09310	N	1	P;P	0.46512	0.879;0.879	B;B	0.37692	0.256;0.256	T	0.26224	-1.0109	10	0.49607	T	0.09	-0.0202	8.7241	0.34458	0.0:0.6347:0.2883:0.077	.	994;1009	E9PEI0;Q69YH5	.;CDCA2_HUMAN	V	1009;994;408	ENSP00000328228:L1009V;ENSP00000370040:L994V	ENSP00000328228:L1009V	L	+	1	2	CDCA2	25421124	0.008000	0.16893	0.006000	0.13384	0.163000	0.22366	0.421000	0.21280	0.354000	0.24105	0.655000	0.94253	CTG		0.433	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		15	99	0	0	0	0	15	99				
SPIDR	23514	broad.mit.edu	37	8	48614380	48614380	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:48614380A>G	ENST00000297423.4	+	13	2255	c.1871A>G	c.(1870-1872)aAg>aGg	p.K624R	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Missense_Mutation_p.K99R|SPIDR_ENST00000541342.1_Missense_Mutation_p.K554R|SPIDR_ENST00000518074.1_Missense_Mutation_p.K564R	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	624					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											CCCATTTATAAGCTTTACCAG	0.428																																						uc003xqd.2		NA																	0					0						c.(1870-1872)AAG>AGG		hypothetical protein LOC23514							180.0	170.0	173.0					8																	48614380		1874	4101	5975	SO:0001583	missense	23514							g.chr8:48614380A>G	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1871A>G	8.37:g.48614380A>G	ENSP00000297423:p.Lys624Arg					KIAA0146_uc011ldb.1_Missense_Mutation_p.K624R|KIAA0146_uc010lxs.2_Missense_Mutation_p.K99R|KIAA0146_uc011ldc.1_Missense_Mutation_p.K554R|KIAA0146_uc011ldd.1_Missense_Mutation_p.K564R|KIAA0146_uc003xqe.2_Missense_Mutation_p.K99R|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.K313R|KIAA0146_uc010lxt.2_Missense_Mutation_p.K313R|KIAA0146_uc011ldf.1_Missense_Mutation_p.K129R|KIAA0146_uc011ldg.1_Missense_Mutation_p.K114R|KIAA0146_uc010lxv.1_Missense_Mutation_p.K118R	p.K624R	NM_001080394	NP_001073863	Q14159	K0146_HUMAN			13	1880	+		Lung NSC(58;0.175)	624					B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.1871A>G	CCDS43737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.20|11.20	1.568922|1.568922	0.28003|0.28003	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362|ENST00000519401	.|.	.|.	.|.	5.37|5.37	1.52|1.52	0.23074|0.23074	.|.	0.529823|.	0.21812|.	N|.	0.068746|.	T|T	0.38134|0.38134	0.1029|0.1029	L|L	0.50333|0.50333	1.59|1.59	0.19300|0.19300	N|N	0.999975|0.999975	P;P;B;B;P;B;P;B|.	0.37276|.	0.589;0.589;0.435;0.003;0.493;0.005;0.589;0.003|.	B;B;B;B;B;B;B;B|.	0.36608|.	0.229;0.229;0.167;0.007;0.079;0.007;0.167;0.007|.	T|T	0.26710|0.26710	-1.0095|-1.0095	9|5	0.48119|.	T|.	0.1|.	.|.	5.2771|5.2771	0.15655|0.15655	0.6898:0.1505:0.1597:0.0|0.6898:0.1505:0.1597:0.0	.|.	114;129;564;554;624;313;99;624|.	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B4DFT3;B3KP42;Q14159|.	.;.;.;.;.;.;.;K0146_HUMAN|.	R|G	624;564;554;129;99;99|306	.|.	ENSP00000297423:K624R|.	K|S	+|+	2|1	0|0	KIAA0146|KIAA0146	48776933|48776933	0.998000|0.998000	0.40836|0.40836	0.808000|0.808000	0.32385|0.32385	0.512000|0.512000	0.34134|0.34134	2.006000|2.006000	0.40874|0.40874	0.892000|0.892000	0.36259|0.36259	0.529000|0.529000	0.55759|0.55759	AAG|AGC		0.428	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		91	170	0	0	0	0	91	170				
TRPA1	8989	broad.mit.edu	37	8	72948640	72948640	+	Missense_Mutation	SNP	G	G	A	rs538354055		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:72948640G>A	ENST00000262209.4	-	21	2645	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	813					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GATGCCCGTCGTGTAGATAAT	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		18138	0.0		0.001	False		,,,				2504	0.0					uc003xza.2		NA																	0				ovary(4)|lung(1)|kidney(1)	6						c.(2437-2439)ACG>ATG		ankyrin-like protein 1	Menthol(DB00825)						60.0	60.0	60.0					8																	72948640		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72948640G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2438C>T	8.37:g.72948640G>A	ENSP00000262209:p.Thr813Met					uc011lff.1_Intron|uc003xyy.2_Intron	p.T813M	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		21	2613	-			813			Helical; Name=3; (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2438C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	9.315	1.056535	0.19907	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.32753	1.44;1.44	4.83	3.96	0.45880	Ion transport (1);	0.257775	0.38381	N	0.001705	T	0.49660	0.1570	M	0.73598	2.24	0.32639	N	0.520996	D	0.89917	1.0	D	0.72982	0.979	T	0.61322	-0.7086	10	0.59425	D	0.04	-10.7696	6.7065	0.23254	0.1594:0.1466:0.694:0.0	.	813	O75762	TRPA1_HUMAN	M	665;813	ENSP00000428151:T665M;ENSP00000262209:T813M	ENSP00000262209:T813M	T	-	2	0	TRPA1	73111194	0.996000	0.38824	0.891000	0.34965	0.085000	0.17905	2.223000	0.42936	1.023000	0.39654	0.460000	0.39030	ACG		0.363	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		14	53	0	0	0	0	14	53				
RIMS2	9699	broad.mit.edu	37	8	104987601	104987601	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:104987601C>G	ENST00000436393.2	+	14	2369	c.2128C>G	c.(2128-2130)Ctt>Gtt	p.L710V	RIMS2_ENST00000507740.1_Missense_Mutation_p.L724V|RIMS2_ENST00000262231.10_Missense_Mutation_p.L771V|RIMS2_ENST00000406091.3_Missense_Mutation_p.L932V			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	994	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTCGAGATCTTCAAAGCTC	0.358										HNSCC(12;0.0054)																												uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2128-2130)CTT>GTT		regulating synaptic membrane exocytosis 2							98.0	90.0	92.0					8																	104987601		1888	4104	5992	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104987601C>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2128C>G	8.37:g.104987601C>G	ENSP00000390665:p.Leu710Val	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.L932V|RIMS2_uc003ylw.2_Missense_Mutation_p.L724V|RIMS2_uc003ylq.2_Missense_Mutation_p.L724V|RIMS2_uc003ylr.2_Missense_Mutation_p.L771V|RIMS2_uc003ylt.2_Missense_Mutation_p.L317V	p.L710V	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2369	+			994					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2128C>G		.	.	.	.	.	.	.	.	.	.	C	13.70	2.314243	0.40996	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.18338	2.22;2.72;2.4;2.41;2.35;2.72	5.11	5.11	0.69529	.	.	.	.	.	T	0.26846	0.0657	L	0.44542	1.39	0.80722	D	1	P;B;P;P;D;P	0.53619	0.61;0.312;0.584;0.874;0.961;0.856	B;B;B;P;P;B	0.53912	0.366;0.268;0.39;0.737;0.721;0.423	T	0.01345	-1.1379	9	0.16896	T	0.51	.	18.9148	0.92501	0.0:1.0:0.0:0.0	.	994;994;710;771;724;932	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	V	932;947;932;994;771;724;724;710	ENSP00000427018:L932V;ENSP00000384892:L932V;ENSP00000262231:L771V;ENSP00000423559:L724V;ENSP00000386228:L724V;ENSP00000390665:L710V	ENSP00000262231:L771V	L	+	1	0	RIMS2	105056777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.341000	0.59335	2.544000	0.85801	0.655000	0.94253	CTT		0.358	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		8	29	0	0	0	0	8	29				
DCSTAMP	81501	broad.mit.edu	37	8	105361225	105361225	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:105361225C>T	ENST00000297581.2	+	2	494	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Nonsense_Mutation_p.Q149*	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	149					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											TGAGGCAATTCAGTGGATTTA	0.418																																						uc003ylx.1		NA																	0				pancreas(2)|large_intestine(1)|ovary(1)	4						c.(445-447)CAG>TAG		dendritic cell-specific transmembrane protein							81.0	85.0	83.0					8																	105361225		2203	4300	6503	SO:0001587	stop_gained	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361225C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.445C>T	8.37:g.105361225C>T	ENSP00000297581:p.Gln149*						p.Q149*	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	494	+			149					B7ZVW2|E7ESG0|Q2M2D5	Nonsense_Mutation	SNP	ENST00000297581.2	37	c.445C>T	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937613	0.73557	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	.	.	.	5.84	1.76	0.24704	.	0.709249	0.14132	N	0.339330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.1364	2.0256	0.03518	0.2827:0.3414:0.2525:0.1235	.	.	.	.	X	149	.	.	Q	+	1	0	TM7SF4	105430401	0.507000	0.26146	0.427000	0.26684	0.996000	0.88848	0.377000	0.20552	0.773000	0.33404	0.655000	0.94253	CAG		0.418	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		14	84	0	0	0	0	14	84				
CSMD3	114788	broad.mit.edu	37	8	113988168	113988168	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:113988168C>A	ENST00000297405.5	-	7	1484	c.1240G>T	c.(1240-1242)Ggg>Tgg	p.G414W	CSMD3_ENST00000352409.3_Missense_Mutation_p.G414W|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.G374W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	414						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						GGAGAGAGCCCGTCCTTGGAC	0.478										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.(1240-1242)GGG>TGG		CUB and Sushi multiple domains 3 isoform 1							201.0	178.0	185.0					8																	113988168		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113988168C>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.1240G>T	8.37:g.113988168C>A	ENSP00000297405:p.Gly414Trp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.G374W|CSMD3_uc011lhx.1_Intron	p.G414W	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			7	1399	-			414			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1240G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893496	0.33442	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	T;T;T	0.19250	2.16;2.16;2.16	5.65	4.76	0.60689	.	0.370657	0.19611	N	0.110123	T	0.13030	0.0316	N	0.08118	0	0.23677	N	0.997132	P;P	0.50156	0.888;0.932	B;P	0.48189	0.256;0.57	T	0.06752	-1.0809	10	0.34782	T	0.22	.	5.8472	0.18673	0.1282:0.538:0.2627:0.0711	.	414;374	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	W	374;414;414	ENSP00000345799:G374W;ENSP00000297405:G414W;ENSP00000343124:G414W	ENSP00000297405:G414W	G	-	1	0	CSMD3	114057344	0.561000	0.26578	0.993000	0.49108	0.990000	0.78478	0.599000	0.24089	1.585000	0.49928	0.655000	0.94253	GGG		0.478	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		22	117	1	0	6.33e-15	2.51e-14	22	117				
COL22A1	169044	broad.mit.edu	37	8	139601580	139601580	+	Silent	SNP	G	G	A			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:139601580G>A	ENST00000303045.6	-	65	5243	c.4797C>T	c.(4795-4797)ccC>ccT	p.P1599P	COL22A1_ENST00000435777.1_Silent_p.P1579P|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1599	Collagen-like 16.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGGGGACCGGGAGGTCCTG	0.622										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(4795-4797)CCC>CCT		collagen, type XXII, alpha 1							50.0	47.0	48.0					8																	139601580		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139601580G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4797C>T	8.37:g.139601580G>A		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Silent_p.P879P	p.P1599P	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		65	5244	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1599			Pro-rich.|Gly-rich.|Collagen-like 16.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.4797C>T	CCDS6376.1																																																																																				0.622	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	36	0	0	0	0	7	36				
ZNF250	58500	broad.mit.edu	37	8	146107136	146107136	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:146107136C>G	ENST00000292579.7	-	6	1563	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	ZNF250_ENST00000417550.2_Missense_Mutation_p.E478Q|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TTGCCACATTCTGTGCACTGG	0.552																																					NSCLC(16;520 556 24096 40084 43446)	uc003zeq.3		NA																	0					0						c.(1447-1449)GAA>CAA		zinc finger protein 250 isoform a							76.0	66.0	70.0					8																	146107136		2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146107136C>G	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1447G>C	8.37:g.146107136C>G	ENSP00000292579:p.Glu483Gln					COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.E478Q|ZNF250_uc010mgg.2_Missense_Mutation_p.E478Q	p.E483Q	NM_021061	NP_066405	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	1564	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		483			C2H2-type 11.		D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.1447G>C	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	C	4.093	0.015230	0.07959	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	T;T	0.07444	3.19;3.19	4.1	1.22	0.21188	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.491932	0.17318	N	0.178630	T	0.05227	0.0139	N	0.16903	0.455	0.38804	D	0.955274	B;B	0.17268	0.021;0.015	B;B	0.15484	0.013;0.012	T	0.36138	-0.9760	10	0.39692	T	0.17	-28.4115	9.0936	0.36625	0.1244:0.4734:0.4023:0.0	.	478;483	D3DWP1;P15622	.;ZN250_HUMAN	Q	483;478;366	ENSP00000292579:E483Q;ENSP00000393442:E478Q	ENSP00000292579:E483Q	E	-	1	0	ZNF250	146077940	0.000000	0.05858	0.224000	0.23877	0.029000	0.11900	0.016000	0.13377	0.267000	0.21916	-0.494000	0.04653	GAA		0.552	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		7	41	0	0	0	0	7	41				
ZNF250	58500	broad.mit.edu	37	8	146107269	146107269	+	Silent	SNP	C	C	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:146107269C>G	ENST00000292579.7	-	6	1430	c.1314G>C	c.(1312-1314)ctG>ctC	p.L438L	ZNF250_ENST00000417550.2_Silent_p.L433L|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		GGTGCTGGATCAGGTGTGAGT	0.567																																					NSCLC(16;520 556 24096 40084 43446)	uc003zeq.3		NA																	0					0						c.(1312-1314)CTG>CTC		zinc finger protein 250 isoform a							143.0	134.0	137.0					8																	146107269		2203	4300	6503	SO:0001819	synonymous_variant	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146107269C>G	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1314G>C	8.37:g.146107269C>G						COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Silent_p.L433L|ZNF250_uc010mgg.2_Silent_p.L433L	p.L438L	NM_021061	NP_066405	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	1431	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		438			C2H2-type 9.		D3DWP1|Q59HE9|Q8N942|Q96AH9	Silent	SNP	ENST00000292579.7	37	c.1314G>C	CCDS34972.1																																																																																				0.567	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		11	62	0	0	0	0	11	62				
APBA1	320	broad.mit.edu	37	9	72131553	72131553	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr9:72131553C>T	ENST00000265381.4	-	2	796	c.574G>A	c.(574-576)Ggc>Agc	p.G192S		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	192					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCCTGGAGGCCGCCGTAGTCG	0.687																																						uc004ahh.2		NA																	0				lung(1)	1						c.(574-576)GGC>AGC		amyloid beta A4 precursor protein-binding,							26.0	26.0	26.0					9																	72131553		2201	4297	6498	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131553C>T	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.574G>A	9.37:g.72131553C>T	ENSP00000265381:p.Gly192Ser						p.G192S	NM_001163	NP_001154	Q02410	APBA1_HUMAN			2	850	-			192					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.574G>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662617	0.29515	.	.	ENSG00000107282	ENST00000265381	T	0.03524	3.9	5.08	5.08	0.68730	.	0.275476	0.36482	N	0.002566	T	0.03827	0.0108	N	0.14661	0.345	0.31529	N	0.661488	D	0.63046	0.992	P	0.45577	0.486	T	0.25152	-1.0140	10	0.46703	T	0.11	.	14.3308	0.66556	0.0:1.0:0.0:0.0	.	192	Q02410	APBA1_HUMAN	S	192	ENSP00000265381:G192S	ENSP00000265381:G192S	G	-	1	0	APBA1	71321373	0.980000	0.34600	0.948000	0.38648	0.013000	0.08279	3.269000	0.51592	2.532000	0.85374	0.561000	0.74099	GGC		0.687	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		5	26	0	0	0	0	5	26				
SYK	6850	broad.mit.edu	37	9	93650902	93650902	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr9:93650902A>G	ENST00000375754.4	+	13	1976	c.1828A>G	c.(1828-1830)Aca>Gca	p.T610A	SYK_ENST00000375751.4_Missense_Mutation_p.T587A|SYK_ENST00000375747.1_Missense_Mutation_p.T587A|SYK_ENST00000375746.1_Missense_Mutation_p.T610A	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	610	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCTGTGCTGGACATACGAGTG	0.463			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	uc004aqz.2		NA		Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	ETV6|ITK		MDS|peripheral T-cell lymphoma		0				lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1828-1830)ACA>GCA		spleen tyrosine kinase isoform 1							119.0	95.0	103.0					9																	93650902		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93650902A>G	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1828A>G	9.37:g.93650902A>G	ENSP00000364907:p.Thr610Ala					SYK_uc004ara.2_Missense_Mutation_p.T587A|SYK_uc004arb.2_Missense_Mutation_p.T587A|SYK_uc004arc.2_Missense_Mutation_p.T610A|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	p.T610A	NM_003177	NP_003168	P43405	KSYK_HUMAN			13	2033	+			610			Protein kinase.			Missense_Mutation	SNP	ENST00000375754.4	37	c.1828A>G	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.002918	0.54254	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.22	5.22	0.72569	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71937	0.3399	N	0.01257	-0.925	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.73338	-0.4014	10	0.11794	T	0.64	.	15.4025	0.74852	1.0:0.0:0.0:0.0	.	587;610	P43405-2;P43405	.;KSYK_HUMAN	A	610;587;587;610	ENSP00000364907:T610A;ENSP00000364904:T587A;ENSP00000364899:T587A;ENSP00000364898:T610A	ENSP00000364898:T610A	T	+	1	0	SYK	92690723	1.000000	0.71417	0.996000	0.52242	0.551000	0.35334	8.749000	0.91619	2.082000	0.62665	0.455000	0.32223	ACA		0.463	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			7	18	0	0	0	0	7	18				
PAPPA	5069	broad.mit.edu	37	9	118997917	118997917	+	Splice_Site	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr9:118997917G>T	ENST00000328252.3	+	7	3101		c.e7+1		PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1						cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCGTAGACATGTAAGTGCATT	0.507																																						uc004bjn.2		NA																	0				ovary(4)|skin(4)|pancreas(1)	9						c.e7+1		pregnancy-associated plasma protein A							99.0	99.0	99.0					9																	118997917		2203	4300	6503	SO:0001630	splice_region_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118997917G>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2732+1G>T	9.37:g.118997917G>T						PAPPA_uc011lxp.1_Splice_Site_p.M606_splice|PAPPA_uc011lxq.1_Intron	p.M911_splice	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			7	3113	+								B1AMF9|Q08371|Q68G52|Q9UDK7	Splice_Site	SNP	ENST00000328252.3	37	c.2732_splice	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544118	0.45280	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPPA	118037738	1.000000	0.71417	0.969000	0.41365	0.040000	0.13550	7.954000	0.87848	2.861000	0.98227	0.655000	0.94253	.		0.507	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	Intron	42	103	1	0	5.24e-18	2.1e-17	42	103				
PRRC2B	84726	broad.mit.edu	37	9	134343088	134343088	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr9:134343088A>G	ENST00000357304.4	+	12	1914	c.1859A>G	c.(1858-1860)tAt>tGt	p.Y620C	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.Y620C|PRRC2B_ENST00000405995.1_Missense_Mutation_p.Y620C	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	620	Gln-rich.						poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAGTTCAAGTATCAGAAGTCC	0.557																																						uc004can.3		NA																	0					0						c.(1858-1860)TAT>TGT		HLA-B associated transcript 2-like							52.0	60.0	57.0					9																	134343088		2054	4209	6263	SO:0001583	missense	84726						protein binding	g.chr9:134343088A>G	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1859A>G	9.37:g.134343088A>G	ENSP00000349856:p.Tyr620Cys					BAT2L1_uc010mzj.1_Missense_Mutation_p.Y203C	p.Y620C	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			12	1914	+			620			Gln-rich.		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.1859A>G	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.517903	0.64634	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000422467	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.36	4.15	0.48705	.	0.202477	0.24169	U	0.040913	T	0.29620	0.0739	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	T	0.02603	-1.1135	10	0.66056	D	0.02	-19.0658	10.4711	0.44638	0.8546:0.0:0.0:0.1454	.	620	Q5JSZ5	PRC2B_HUMAN	C	620;620;620;160	ENSP00000384606:Y620C;ENSP00000349856:Y620C;ENSP00000398853:Y620C;ENSP00000391063:Y160C	ENSP00000349856:Y620C	Y	+	2	0	PRRC2B	133332909	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.653000	0.67967	2.158000	0.67659	0.533000	0.62120	TAT		0.557	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	45	0	0	0	0	20	45				
ASMT	438	broad.mit.edu	37	X	1752052	1752052	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:1752052G>C	ENST00000381229.4	+	6	608	c.572G>C	c.(571-573)gGa>gCa	p.G191A	ASMT_ENST00000509780.1_Intron|ASMT_ENST00000381241.3_Missense_Mutation_p.G219A|ASMT_ENST00000381233.3_Intron			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	191					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)			Melatonin(DB01065)	GGTGGGGCTGGAGCTCTGGCT	0.537													g|||	1	0.000199681	0.0	0.0	5008	,	,		16694	0.0		0.0	False		,,,				2504	0.001					uc004cqd.2		NA																	0				skin(1)	1						c.(655-657)GGA>GCA		acetylserotonin O-methyltransferase							479.0	401.0	427.0					X																	1752052		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1752052G>C	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.572G>C	X.37:g.1752052G>C	ENSP00000370627:p.Gly191Ala					ASMT_uc010ncy.2_Missense_Mutation_p.G219A|ASMT_uc004cqe.2_Intron	p.G219A	NM_004043	NP_004034	P46597	HIOM_HUMAN			8	801	+		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)	191					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.656G>C		.	.	.	.	.	.	.	.	.	.	g	13.72	2.322367	0.41096	.	.	ENSG00000196433	ENST00000381241;ENST00000381229	D;D	0.85773	-2.03;-2.03	1.3	1.3	0.21679	.	0.124466	0.53938	U	0.000058	D	0.92001	0.7466	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.91623	0.5312	10	0.87932	D	0	.	10.0526	0.42225	0.0:0.0:1.0:0.0	.	219	P46597-3	.	A	219;191	ENSP00000370639:G219A;ENSP00000370627:G191A	ENSP00000370627:G191A	G	+	2	0	ASMT	1712052	1.000000	0.71417	0.021000	0.16686	0.067000	0.16453	5.940000	0.70187	0.612000	0.30071	0.275000	0.19346	GGA		0.537	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		39	172	0	0	0	0	39	172				
NLGN4X	57502	broad.mit.edu	37	X	5811511	5811511	+	Silent	SNP	A	A	G			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:5811511A>G	ENST00000381095.3	-	6	2425	c.1798T>C	c.(1798-1800)Ttg>Ctg	p.L600L	NLGN4X_ENST00000538097.1_Silent_p.L600L|NLGN4X_ENST00000381092.1_Silent_p.L600L|NLGN4X_ENST00000275857.6_Silent_p.L600L|NLGN4X_ENST00000381093.2_Silent_p.L620L	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	600					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATCTCGTTCAAGTTGTGCAAA	0.483																																						uc010ndh.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(1798-1800)TTG>CTG		X-linked neuroligin 4 precursor							145.0	135.0	139.0					X																	5811511		2200	4294	6494	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811511A>G	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1798T>C	X.37:g.5811511A>G						NLGN4X_uc004crp.2_Silent_p.L620L|NLGN4X_uc004crq.2_Silent_p.L600L|NLGN4X_uc010ndi.2_Silent_p.L637L|NLGN4X_uc004crr.2_Silent_p.L600L|NLGN4X_uc010ndj.2_Silent_p.L600L	p.L600L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			6	2299	-			600			Extracellular (Potential).		Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.1798T>C	CCDS14126.1																																																																																				0.483	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		49	38	0	0	0	0	49	38				
FAM47B	170062	broad.mit.edu	37	X	34961338	34961338	+	Silent	SNP	C	C	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:34961338C>T	ENST00000329357.5	+	1	426	c.390C>T	c.(388-390)ccC>ccT	p.P130P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	130										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCAAGCATCCCTTGGCCATGT	0.557																																						uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(388-390)CCC>CCT		hypothetical protein LOC170062							101.0	88.0	93.0					X																	34961338		2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34961338C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.390C>T	X.37:g.34961338C>T							p.P130P	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	408	+			130					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.390C>T	CCDS14236.1																																																																																				0.557	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		40	22	0	0	0	0	40	22				
COL4A5	1287	broad.mit.edu	37	X	107924156	107924156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:107924156G>T	ENST00000361603.2	+	44	4283	c.4039G>T	c.(4039-4041)Gag>Tag	p.E1347*	COL4A5_ENST00000328300.6_Nonsense_Mutation_p.E1353*	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1347	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGCTGGCCCTGAGGGGGAACC	0.448									Alport syndrome with Diffuse Leiomyomatosis																													uc004enz.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(4057-4059)GAG>TAG		type IV collagen alpha 5 isoform 2 precursor							122.0	114.0	116.0					X																	107924156		2203	4300	6503	SO:0001587	stop_gained	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107924156G>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4039G>T	X.37:g.107924156G>T	ENSP00000354505:p.Glu1347*					COL4A5_uc011mso.1_Nonsense_Mutation_p.E1350*|COL4A5_uc011msp.1_Nonsense_Mutation_p.E29*	p.E1353*	NM_033380	NP_203699	P29400	CO4A5_HUMAN			45	4259	+			1347			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Nonsense_Mutation	SNP	ENST00000361603.2	37	c.4057G>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	44	10.972183	0.99497	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	.	.	.	5.42	5.42	0.78866	.	0.249250	0.40728	N	0.001026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	6.3399	0.21316	0.2491:0.0:0.7509:0.0	.	.	.	.	X	1353;1347;1353	.	ENSP00000331902:E1353X	E	+	1	0	COL4A5	107810812	0.949000	0.32298	0.999000	0.59377	0.451000	0.32288	2.566000	0.45948	2.255000	0.74692	0.506000	0.49869	GAG		0.448	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			51	25	1	0	1.86e-20	7.51e-20	51	25				
CT47B1	643311	broad.mit.edu	37	X	120008849	120008850	+	Nonsense_Mutation	DNP	TC	TC	AG			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:120008849_120008850TC>AG	ENST00000371311.3	-	1	929_930	c.675_676GA>CT	c.(673-678)gaGAaa>gaCTaa	p.225_226EK>D*		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	225										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						tctgGGGGTTTCTCATCTGCGG	0.703																																						uc011muc.1		NA																	0					0						c.(673-678)GAGAAA>GACTAA		cancer/testis antigen family 147, member B1																																				SO:0001587	stop_gained	643311							g.chrX:120008849_120008850TC>AG		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.675_676delinsAG	X.37:g.120008849_120008850delinsAG	ENSP00000360360:p.E225_K226delinsD*						p.225_226EK>D*	NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN			1	930_931	-			225_226					A6NM97	Nonsense_Mutation	DNP	ENST00000371311.3	37	c.675_676GA>CT	CCDS48161.1																																																																																				0.703	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		6	136	0	0	0	0	6	136				
HEATR5B	54497	broad.mit.edu	37	2	37234297	37234298	+	In_Frame_Ins	INS	-	-	AACCAG			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:37234297_37234298insAACCAG	ENST00000233099.5	-	29	4767_4768	c.4672_4673insCTGGTT	c.(4672-4674)tta>tCTGGTTta	p.1557_1558insSG	HEATR5B_ENST00000354531.2_In_Frame_Ins_p.1557_1558insSG	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1557						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACGTTTTTGTAAACCAGATATT	0.431																																						uc002rpp.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(4672-4674)TTA>TCTGGTTTA		HEAT repeat containing 5B																																				SO:0001652	inframe_insertion	54497						binding	g.chr2:37234297_37234298insAACCAG	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4667_4672dupCTGGTT	2.37:g.37234298_37234303dupAACCAG	ENSP00000233099:p.Ser1556_Gly1557dup					HEATR5B_uc010ezy.1_In_Frame_Ins_p.141_142insSG	p.1557_1558insSG	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			29	4768_4769	-		all_hematologic(82;0.21)	1557_1558					B5MDU8|Q7Z3B2|Q9NVL7	In_Frame_Ins	INS	ENST00000233099.5	37	c.4672_4673insCTGGTT	CCDS33181.1																																																																																				0.431	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		15	112	NA	NA	NA	NA	15	112	---	---	---	---
NRCAM	4897	broad.mit.edu	37	7	107820812	107820813	+	Frame_Shift_Ins	INS	-	-	T	rs139634064		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:107820812_107820813insT	ENST00000425651.2	-	22	2704_2705	c.2705_2706insA	c.(2704-2706)aagfs	p.K902fs	NRCAM_ENST00000379024.4_Frame_Shift_Ins_p.K883fs|NRCAM_ENST00000351718.4_Frame_Shift_Ins_p.K886fs|NRCAM_ENST00000379022.4_Frame_Shift_Ins_p.K902fs|NRCAM_ENST00000413765.2_Frame_Shift_Ins_p.K883fs|NRCAM_ENST00000379028.3_Frame_Shift_Ins_p.K902fs	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	902	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGGTGAGGATCTTTTTCTCAAT	0.47																																						uc003vfb.2		NA																	0				ovary(3)|breast(2)	5						c.(2704-2706)AAGfs		neuronal cell adhesion molecule isoform A																																				SO:0001589	frameshift_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107820812_107820813insT		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2706dupA	7.37:g.107820817_107820817dupT	ENSP00000401244:p.Lys902fs					NRCAM_uc003vfc.2_Frame_Shift_Ins_p.K886fs|NRCAM_uc011kmk.1_Frame_Shift_Ins_p.K897fs|NRCAM_uc003vfd.2_Frame_Shift_Ins_p.K878fs|NRCAM_uc003vfe.2_Frame_Shift_Ins_p.K878fs	p.K902fs	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			25	3176_3177	-			902			Fibronectin type-III 3.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Frame_Shift_Ins	INS	ENST00000425651.2	37	c.2705_2706insA	CCDS47686.1																																																																																				0.470	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		17	124	NA	NA	NA	NA	17	124	---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105521276	105521276	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:105521276delG	ENST00000276654.5	-	3	271	c.163delC	c.(163-165)cgafs	p.R55fs	LRP12_ENST00000424843.2_Frame_Shift_Del_p.R36fs	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	55	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.R55G(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGGTGCTCGTATTTGCTCT	0.408																																						uc003yma.2		NA																	1	Substitution - Missense(1)		ovary(1)		0						c.(163-165)CGAfs		low density lipoprotein-related protein 12							144.0	138.0	140.0					8																	105521276		2203	4300	6503	SO:0001589	frameshift_variant	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105521276delG	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.163delC	8.37:g.105521276delG	ENSP00000276654:p.Arg55fs					LRP12_uc003ymb.2_Frame_Shift_Del_p.R36fs|LRP12_uc003ymc.3_Frame_Shift_Del_p.R36fs	p.R55fs	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	258	-			55			Extracellular (Potential).|CUB 1.		A8K137|B4DRQ2	Frame_Shift_Del	DEL	ENST00000276654.5	37	c.163delC	CCDS6303.1																																																																																				0.408	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		16	103	NA	NA	NA	NA	16	103	---	---	---	---
NKAP	79576	broad.mit.edu	37	X	119077333	119077338	+	In_Frame_Del	DEL	CGCGAC	CGCGAC	-			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:119077333_119077338delCGCGAC	ENST00000371410.3	-	1	397_402	c.231_236delGTCGCG	c.(229-237)cggtcgcgt>cgt	p.77_79RSR>R		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	77	Ser-rich.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CTCTCTAGAACGCGACCGCGAGCGTG	0.66																																						uc004esh.2		NA																	0				ovary(2)	2						c.(229-237)CGGTCGCGT>CGT		NFKB activating protein																																				SO:0001651	inframe_deletion	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119077333_119077338delCGCGAC	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.231_236delGTCGCG	X.37:g.119077333_119077338delCGCGAC	ENSP00000360464:p.Arg79_Ser80del						p.77_79RSR>R	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN			1	398_403	-			77_79			Ser-rich.		Q6IPW6|Q96BQ2|Q9H638	In_Frame_Del	DEL	ENST00000371410.3	37	c.231_236delGTCGCG	CCDS14592.1																																																																																				0.660	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		13	9	NA	NA	NA	NA	13	9	---	---	---	---
